human-LIPA

Homo sapiens (Human) lysosomal acid lipase LICH_HUMAN gene LIPA, Lysosomal acid lipase/cholesteryl ester hydrolase (EC:3.1.1.13) LAL cholesterol esterase (wolman disease) Sebelipase

Comment

Responsible for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation. (from OMIM) Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), are seemingly caused by mutations in different parts of the human-LIPA gene. The relatively nonspecific clinical picture of Wolman disease includes poor weight gain, vomiting, diarrhea, increasing hepatosplenomegaly with abdominal protuberance, and death by nutritional failure by 2 to 4 months of age. Sebelipase alfa (Kanuma(R), Kanuma), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D). Lysosomal acid lipase (LAL) is a key enzyme in the metabolic pathway of neutral lipids, whose deficiency (LAL-D) induces the differentiation of myeloid lineage cells into myeloid-derived suppressor cells (MDSCs), which promotes tumor growth and metastasis. || P38571 LIPA_HUMAN previously. Gene name LIPA

Relationship

Family : Acidic_Lipase

Block : X

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Sequence

Peptide

SRGKLTAVDP ETNMNVSEII SYWGFPSEEY LVETEDGYIL CLNRIPHGRK NHSDKGPKPV VFLQHGLLAD SSNWVTNLAN SSLGFILADA GFDVWMGNSR GNTWSRKHKT LSVSQDEFWA FSYDEMAKYD LPASINFILN KTGQEQVYYV GHSQGTTIGF IAFSQIPELA KRIKMFFALG PVASVAFCTS PMAKLGRLPD HLIKDLFGDK EFLPQSAFLK WLGTHVCTHV ILKELCGNLC FLLCGFNERN LNMSRVDVYT THSPAGTSVQ NMLHWSQAVK FQKFQAFDWG SSAKNYFHYN QSYPPTYNVK DMLVPTAVWS GGHDWLADVY DVNILLTQIT NLVFHESIPE WEHLDFIWGL DAPWRLYNKI INLMRKYQ

References (119)

Title : Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier - Zhang_2024_Dig.Dis.Sci__
Author(s) : Zhang JH , Lin AP , Zhang L , Ruan DD , Gao MZ , Chen Q , Yu HP , Liao LS , Lin XF , Fang ZT , Lin F , Lu SY , Luo JW , Zheng XL , Chen MS
Ref : Digestive Diseases & Sciences , : , 2024
PubMedID: 38564148
Gene_locus related to this paper: human-LIPA

Title : High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease - Eskandari_2024_N.Engl.J.Med_390_623
Author(s) : Eskandari SK , Revenich EGM , Pot DJ , de Boer F , Bierings M , van Spronsen FJ , van Hasselt PM , Lindemans CA , Lubout CMA
Ref : N Engl J Med , 390 :623 , 2024
PubMedID: 38354141
Gene_locus related to this paper: human-LIPA

Title : Characterization of lysosomal acid lipase in Ly6G(+) and CD11c(+) myeloid-derived suppressor cells - Zhao_2024_Methods.Cell.Biol_184_119
Author(s) : Zhao T , Du H , Yan C
Ref : Methods Cell Biol , 184 :119 , 2024
PubMedID: 38555152
Gene_locus related to this paper: human-LIPA

Title : Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party -
Author(s) : Lum SH , Minkov M , Jones SA , Hazelaar S , Sirait T , Potter JE , Stepensky P , Garban F , Pichler H , Stein J , Kaya Z , Schulz A , Mellgren K , Diaz de Heredia C , Pochon C , Riesco S , Diaz MA , Michel G , Lindemans C , Gruhn B , Albert MH , Lankester AC , Neven B , Wynn R
Ref : Bone Marrow Transplant , : , 2023
PubMedID: 36788366
Gene_locus related to this paper: human-LIPA

Title : First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease - Elaraby_2023_J.Mol.Neurosci__
Author(s) : Elaraby NM , Galal ER , Abdel-Hamid M , Elbendary HM , Elbadry M , Mekkawy MK , Ashaat NA , Mounir SM , Ashaat EA
Ref : Journal of Molecular Neuroscience , : , 2023
PubMedID: 37470904
Gene_locus related to this paper: human-LIPA

Title : A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant - Anushiravani_2023_Arch.Iran.Med_26_86
Author(s) : Anushiravani A , Jafari Khamirani H , Mohamadkhani A , Mani A , Dianatpour M , Malekzadeh R
Ref : Arch Iran Med , 26 :86 , 2023
PubMedID: 37543928
Gene_locus related to this paper: human-LIPA

Title : Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase - Bradic_2023_J.Lipid.Res__100427
Author(s) : Bradic I , Liesinger L , Kuentzel KB , Vujic N , Trauner M , Birner-Gruenberger R , Kratky D
Ref : J Lipid Res , :100427 , 2023
PubMedID: 37595802
Gene_locus related to this paper: human-LIPA , mouse-1llip

Title : JLR-D-23-00401-R1 Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders -
Author(s) : Westerterp M , Li F , Zhang H
Ref : J Lipid Res , :100474 , 2023
PubMedID: 37972729
Gene_locus related to this paper: human-LIPA , mouse-1llip

Title : Recent insights into lysosomal acid lipase deficiency - Korbelius_2023_Trends.Mol.Med__
Author(s) : Korbelius M , Kuentzel KB , Bradic I , Vujic N , Kratky D
Ref : Trends Mol Med , : , 2023
PubMedID: 37028992
Gene_locus related to this paper: human-LIPA

Title : Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature - Asna Ashari_2023_J.Med.Case.Rep_17_369
Author(s) : Asna Ashari K , Azari-Yam A , Shahrooei M , Ziaee V
Ref : J Med Case Rep , 17 :369 , 2023
PubMedID: 37641143
Gene_locus related to this paper: human-LIPA

Title : Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders -
Author(s) : Westerterp M , Li F , Zhang H
Ref : J Lipid Res , 64 :100474 , 2023
PubMedID: 37972729
Gene_locus related to this paper: human-LIPA

Title : Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles - Jackson_2023_Genet.Test.Mol.Biomarkers_27_319
Author(s) : Jackson J , Farajzadeh J , Turner R , Yukutake K , Baghdasaryan E , Denis ES , Barseghyan T , Herrera P , Begaj S , Pietruszka M , Valles-Ayoub Y
Ref : Genet Test Mol Biomarkers , 27 :319 , 2023
PubMedID: 37903030
Gene_locus related to this paper: human-LIPA

Title : Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice - Akhmetshina_2023_Mol.Metab__101869
Author(s) : Akhmetshina A , Bianco V , Bradic I , Korbelius M , Pirchheim A , Kuentzel KB , Eichmann TO , Hinteregger H , Kolb D , Habisch H , Liesinger L , Madl T , Sattler W , Radovic B , Sedej S , Birner-Gruenberger R , Vujic N , Kratky D
Ref : Mol Metab , :101869 , 2023
PubMedID: 38160938
Gene_locus related to this paper: human-LIPA , mouse-1llip

Title : Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study - Mashima_2022_Int.J.Mol.Sci_23_
Author(s) : Mashima R , Takada S
Ref : Int J Mol Sci , 23 : , 2022
PubMedID: 36555187
Gene_locus related to this paper: human-LIPA

Title : [A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation] - Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360
Author(s) : Xiao ZJ , Liu SX , Zou B , Cheng HH , Xu H , Huang ZH , Shu SN
Ref : Zhonghua Er Ke Za Zhi , 60 :360 , 2022
PubMedID: 35385947
Gene_locus related to this paper: human-LIPA

Title : Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis - Baronio_2022_Mol.Genet.Metab.Rep_30_100833
Author(s) : Baronio F , Conti F , Miniaci A , Carfagnini F , Di Natale V , Di Donato G , Testi M , Totaro C , De Fanti A , Boenzi S , Dionisi-Vici C , Esposito S , Pession A
Ref : Mol Genet Metab Rep , 30 :100833 , 2022
PubMedID: 35242567
Gene_locus related to this paper: human-LIPA

Title : A Novel Variant in the LIPA Gene Associated with Distinct Phenotype - Sarajlija_2022_Balkan.J.Med.Genet_25_93
Author(s) : Sarajlija A , Armengol L , Maver A , Kitic I , Prokic D , Cehic M , Djuricic MS , Peterlin B
Ref : Balkan Journal of Medical Genetics , 25 :93 , 2022
PubMedID: 36880034
Gene_locus related to this paper: human-LIPA

Title : Targeting LIPA independent of its lipase activity is a therapeutic strategy in solid tumors via induction of endoplasmic reticulum stress - Liu_2022_Nat.Cancer__
Author(s) : Liu X , Viswanadhapalli S , Kumar S , Lee TK , Moore A , Ma S , Chen L , Hsieh M , Li M , Sareddy GR , Parra K , Blatt EB , Reese TC , Zhao Y , Chang A , Yan H , Xu Z , Pratap UP , Liu Z , Roggero CM , Tan Z , Weintraub ST , Peng Y , Tekmal RR , Arteaga CL , Lippincott-Schwartz J , Vadlamudi RK , Ahn JM , Raj GV
Ref : Nat Cancer , : , 2022
PubMedID: 35654861
Gene_locus related to this paper: human-LIPA

Title : Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency\/Wolman disease patient: Infancy to age five - Cossette_2022_Can.Liver.J_5_428
Author(s) : Cossette A , Castilloux J , Bouffard C , Laflamme J , Faure C , Benlamlih S , Abel F , Beecroft M , Francis M , Drouin R
Ref : Can Liver J , 5 :428 , 2022
PubMedID: 36133901
Gene_locus related to this paper: human-LIPA

Title : 15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report - Cunha-Silva_2022_Medicine.(Baltimore)_101_e30315
Author(s) : Cunha-Silva M , de Franca EVC , Veiga CT , Greca RD , de Moraes PBS , de Campos Mazo DF , de Ataide EC , Perales SR , Monici LT , Seva-Pereira T
Ref : Medicine (Baltimore) , 101 :e30315 , 2022
PubMedID: 36107601
Gene_locus related to this paper: human-LIPA

Title : Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency - Lam_2022_Mol.Ther.Methods.Clin.Dev_26_413
Author(s) : Lam P , Ashbrook A , Zygmunt DA , Yan C , Du H , Martin PT
Ref : Mol Ther Methods Clin Dev , 26 :413 , 2022
PubMedID: 36092360
Gene_locus related to this paper: mouse-1llip , human-LIPA

Title : Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program - Sustar_2022_Front.Genet_13_936121
Author(s) : Sustar U , Groselj U , Trebusak Podkrajsek K , Mlinaric M , Kovac J , Thaler M , Drole Torkar A , Skarlovnik A , Battelino T , Hovnik T
Ref : Front Genet , 13 :936121 , 2022
PubMedID: 35903350
Gene_locus related to this paper: human-LIPA

Title : Lysosomal Acid Lipase Drives Adipocyte Cholesterol Homeostasis and Modulates Lipid Storage in Obesity, Independent of Autophagy - Gamblin_2021_Diabetes_70_76
Author(s) : Gamblin C , Rouault C , Lacombe A , Langa-Vives F , Farabos D , Lamaziere A , Clement K , Gautier EL , Yvan-Charvet L , Dugail I
Ref : Diabetes , 70 :76 , 2021
PubMedID: 33139329
Gene_locus related to this paper: human-LIPA

Title : Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease - Potter_2021_Orphanet.J.Rare.Dis_16_235
Author(s) : Potter JE , Petts G , Ghosh A , White FJ , Kinsella JL , Hughes S , Roberts J , Hodgkinson A , Brammeier K , Church H , Merrigan C , Hughes J , Evans P , Campbell H , Bonney D , Newman WG , Bigger BW , Broomfield A , Jones SA , Wynn RF
Ref : Orphanet J Rare Dis , 16 :235 , 2021
PubMedID: 34020687
Gene_locus related to this paper: human-LIPA

Title : Loss of Function of Lysosomal Acid Lipase (LAL) Profoundly Impacts Osteoblastogenesis and Increases Fracture Risk in Humans - Helderman_2021_Bone__115946
Author(s) : Helderman RC , Whitney DG , Duta-Mare M , Akhmetshina A , Vujic N , Jayapalan S , Nyman JS , Misra BB , Rosen CJ , Czech MP , Kratky D , Rendina-Ruedy E
Ref : Bone , :115946 , 2021
PubMedID: 33838322
Gene_locus related to this paper: human-LIPA , mouse-1llip

Title : Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review - Alabbas_2021_BMC.Pediatr_21_72
Author(s) : Alabbas F , Elyamany G , Alanzi T , Ali TB , Albatniji F , Alfaraidi H
Ref : BMC Pediatr , 21 :72 , 2021
PubMedID: 33568092
Gene_locus related to this paper: human-LIPA

Title : Safety of sebelipase alfa for the treatment of lysosomal acid lipase deficiency - Ezgu_2021_Expert.Opin.Drug.Saf__
Author(s) : Ezgu F
Ref : Expert Opin Drug Safety , : , 2021
PubMedID: 34664536
Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase deficiency in pediatric patients: A scoping review - Witeck_2021_J.Pediatr.(Rio.J)__
Author(s) : Witeck CDR , Schmitz AC , de Oliveira JMD , Porporatti AL , Canto GL , Pires MMS
Ref : J Pediatr (Rio J) , : , 2021
PubMedID: 33964214
Gene_locus related to this paper: human-LIPA

Title : A rare case of lysosomal acid lipase deficiency diagnosed by endoscopy -
Author(s) : Torres LD , Bonilha DQ , Diaz RG , de Carvalho RB , Montes CG
Ref : Gastrointest Endosc , : , 2021
PubMedID: 34922935
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature - Rashu_2020_World.J.Clin.Cases_8_1642
Author(s) : Rashu EB , Junker AE , Danielsen KV , Dahl E , Hamberg O , Borgwardt L , Christensen VB , Wewer Albrechtsen NJ , Gluud LL
Ref : World J Clin Cases , 8 :1642 , 2020
PubMedID: 32432142
Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein - Strom_2020_Proteins_88_440
Author(s) : Strom TB , Vinje T , Bjune K , da Costa LT , Laerdahl JK , Leren TP
Ref : Proteins , 88 :440 , 2020
PubMedID: 31587363
Gene_locus related to this paper: human-LIPA

Title : Crystal Structure of human Lysosomal Acid Lipase and its Implications in Cholesteryl Ester Storage Disease (CESD) - Rajamohan_2020_J.Lipid.Res__
Author(s) : Rajamohan F , Reyes AR , Tu M , Nedoma NL , Hoth LR , Schwaid AG , Kurumbail RG , Ward J , Han S
Ref : J Lipid Res , : , 2020
PubMedID: 32482718
Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase is the major acid retinyl ester hydrolase in cultured human hepatic stellate cells but not essential for retinyl ester degradation - Wagner_2020_Biochim.Biophys.Acta.Mol.Cell.Biol.Lipids_1865_158730
Author(s) : Wagner C , Hois V , Pajed L , Pusch LM , Wolinski H , Trauner M , Zimmermann R , Taschler U , Lass A
Ref : Biochimica & Biophysica Acta Molecular & Cellular Biology Lipids , 1865 :158730 , 2020
PubMedID: 32361002
Gene_locus related to this paper: human-LIPA

Title : Progressive macrophage accumulation in lysosomal acid lipase deficiency - Lipinski_2020_Mol.Genet.Metab.Rep_23_100594
Author(s) : Lipinski P , Cielecka-Kuszyk J , Bozkiewicz-Kasperczyk A , Perkowska B , Jurkiewicz E , Tylki-Szymanska A
Ref : Mol Genet Metab Rep , 23 :100594 , 2020
PubMedID: 32382506
Gene_locus related to this paper: human-LIPA

Title : The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency - Bychkov_2019_Mol.Genet.Metab_127_212
Author(s) : Bychkov IO , Kamenets EA , Filatova AY , Skoblov MY , Mikhaylova SV , Strokova TV , Gundobina OS , Zakharova EY
Ref : Mol Genet Metab , 127 :212 , 2019
PubMedID: 31230978
Gene_locus related to this paper: human-LIPA

Title : Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency - Del Angel_2019_Hum.Mutat_40_2007
Author(s) : Del Angel G , Hutchinson AT , Jain NK , Forbes CD , Reynders J
Ref : Hum Mutat , 40 :2007 , 2019
PubMedID: 31180157
Gene_locus related to this paper: human-LIPA

Title : Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease - Evans_2019_Arterioscler.Thromb.Vasc.Biol_39_2480
Author(s) : Evans TD , Zhang X , Clark RE , Alisio A , Song E , Zhang H , Reilly MP , Stitziel NO , Razani B
Ref : Arterioscler Thromb Vasc Biol , 39 :2480 , 2019
PubMedID: 31645127
Gene_locus related to this paper: human-LIPA

Title : Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity - Vinje_2019_Hum.Mol.Genet_28_3043
Author(s) : Vinje T , Laerdahl JK , Bjune K , Leren TP , Strom TB
Ref : Hum Mol Genet , 28 :3043 , 2019
PubMedID: 31131398
Gene_locus related to this paper: human-LIPA

Title : A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis - Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193
Author(s) : Tinsa F , Ben Romdhane M , Boudabous H , Bel Hadj I , Brini I , Tebib N , Louati H , Bekri S , Boussetta K
Ref : J Pediatr Hematol Oncol , 41 :e193 , 2019
PubMedID: 29702543
Gene_locus related to this paper: human-LIPA

Title : A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia - Mayanskiy_2019_JIMD.Rep_48_75
Author(s) : Mayanskiy N , Brzhozovskaya E , Pushkov A , Strokova T , Vlasov N , Surkov A , Gundobina O , Savostianov K
Ref : JIMD Rep , 48 :75 , 2019
PubMedID: 31392116
Gene_locus related to this paper: human-LIPA

Title : Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights - Cappuccio_2019_J.Inherit.Metab.Dis_42_509
Author(s) : Cappuccio G , Donti TR , Hubert L , Sun Q , Elsea SH
Ref : J Inherit Metab Dis , 42 :509 , 2019
PubMedID: 30684275
Gene_locus related to this paper: human-LIPA

Title : Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene - Vinje_2018_Mol.Genet.Metab_123_169
Author(s) : Vinje T , Wierod L , Leren TP , Strom TB
Ref : Mol Genet Metab , 123 :169 , 2018
PubMedID: 29196158
Gene_locus related to this paper: human-LIPA

Title : Specific Substrate for the Assay of Lysosomal Acid Lipase - Masi_2018_Clin.Chem_64_690
Author(s) : Masi S , Chennamaneni N , Turecek F , Scott CR , Gelb MH
Ref : Clinical Chemistry , 64 :690 , 2018
PubMedID: 29339442
Gene_locus related to this paper: human-LIPA

Title : Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency - Wilson_2018_J.Clin.Lipidol_12_604
Author(s) : Wilson DP , Friedman M , Marulkar S , Hamby T , Bruckert E
Ref : J Clin Lipidol , 12 :604 , 2018
PubMedID: 29628368
Gene_locus related to this paper: human-LIPA

Title : Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa - Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77
Author(s) : Santos Silva E , Klaudel-Dreszler M , Bakula A , Oliva T , Sousa T , Fernandes PC , Tylki-Szymanska A , Kamenets E , Martins E , Socha P
Ref : Clin Res Hepatol Gastroenterol , 42 :e77 , 2018
PubMedID: 29705274
Gene_locus related to this paper: human-LIPA

Title : Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan - Ikari_2018_J.Nippon.Med.Sch_85_131
Author(s) : Ikari N , Shimizu A , Asano T
Ref : J Nippon Med Sch , 85 :131 , 2018
PubMedID: 29731497
Gene_locus related to this paper: human-LIPA

Title : Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study - Jones_2017_Orphanet.J.Rare.Dis_12_25
Author(s) : Jones SA , Rojas-Caro S , Quinn AG , Friedman M , Marulkar S , Ezgu F , Zaki O , Gargus JJ , Hughes J , Plantaz D , Vara R , Eckert S , Arnoux JB , Brassier A , Le Quan Sang KH , Valayannopoulos V
Ref : Orphanet J Rare Dis , 12 :25 , 2017
PubMedID: 28179030
Gene_locus related to this paper: human-LIPA

Title : Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2 - Lukacs_2017_Clin.Chim.Acta_471_201
Author(s) : Lukacs Z , Barr M , Hamilton J
Ref : Clinica Chimica Acta , 471 :201 , 2017
PubMedID: 28532785
Gene_locus related to this paper: human-LIPA

Title : The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency - Erwin_2017_Therap.Adv.Gastroenterol_10_553
Author(s) : Erwin AL
Ref : Therap Adv Gastroenterol , 10 :553 , 2017
PubMedID: 28804516
Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? - Chora_2017_J.Clin.Lipidol_11_477
Author(s) : Chora JR , Alves AC , Medeiros AM , Mariano C , Lobarinhas G , Guerra A , Mansilha H , Cortez-Pinto H , Bourbon M
Ref : J Clin Lipidol , 11 :477 , 2017
PubMedID: 28502505
Gene_locus related to this paper: human-LIPA

Title : A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease - Tovoli_2017_Int.J.Mol.Sci_18_
Author(s) : Tovoli F , Napoli L , Negrini G , D'Addato S , Tozzi G , D'Amico J , Piscaglia F , Bolondi L
Ref : Int J Mol Sci , 18 : , 2017
PubMedID: 28587063
Gene_locus related to this paper: human-LIPA

Title : Childhood\/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases - Poinsot_2017_J.Clin.Lipidol_11_167
Author(s) : Poinsot P , Collardeau Frachon S , Restier L , Serusclat A , Di Filippo M , Charriere S , Moulin P , Lachaux A , Peretti N
Ref : J Clin Lipidol , 11 :167 , 2017
PubMedID: 28391883
Gene_locus related to this paper: human-LIPA

Title : Fast progression of liver damage in lysosomal acid lipase deficiency -
Author(s) : Weiskirchen R
Ref : Curr Med Res Opin , 33 :2081 , 2017
PubMedID: 28537522
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl Ester Storage Disease: An underdiagnosed cause of cirrhosis in adults - Pant_2017_Ann.Diagn.Pathol_31_66
Author(s) : Pant M , Oshima K
Ref : Ann Diagn Pathol , 31 :66 , 2017
PubMedID: 28318950
Gene_locus related to this paper: human-LIPA

Title : Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants - Pisciotta_2017_Atherosclerosis_265_124
Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S
Ref : Atherosclerosis , 265 :124 , 2017
PubMedID: 28881270
Gene_locus related to this paper: human-LIPA

Title : Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease - Ruiz-Andres_2017_JIMD.Rep_37_7
Author(s) : Ruiz-Andres C , Selles E , Arias A , Gort L
Ref : JIMD Rep , 37 :7 , 2017
PubMedID: 28220406
Gene_locus related to this paper: human-LIPA

Title : Sebelipase alfa: enzymatic replacement treatment for lysosomal acid lipase deficiency - Paton_2016_Drugs.Today.(Barc)_52_287
Author(s) : Paton DM
Ref : Drugs Today (Barc) , 52 :287 , 2016
PubMedID: 27376161
Gene_locus related to this paper: human-LIPA

Title : Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa - Su_2016_Appl.Clin.Genet_9_157
Author(s) : Su K , Donaldson E , Sharma R
Ref : Appl Clin Genet , 9 :157 , 2016
PubMedID: 27799810
Gene_locus related to this paper: human-LIPA

Title : Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations - Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277
Author(s) : Elsayed S , Elsobky E , Tantawy A , Ragab E , Gil M , Lambert N , de Saint Basile G
Ref : Egyptian J Med Hum Genet , 17 :277 , 2016
PubMedID:
Gene_locus related to this paper: human-LIPA

Title : Lysosomal Acid Lipase Hydrolyzes Retinyl Ester and Affects Retinoid Turnover - Grumet_2016_J.Biol.Chem_291_17977
Author(s) : Grumet L , Eichmann TO , Taschler U , Zierler KA , Leopold C , Moustafa T , Radovic B , Romauch M , Yan C , Du H , Haemmerle G , Zechner R , Fickert P , Kratky D , Zimmermann R , Lass A
Ref : Journal of Biological Chemistry , 291 :17977 , 2016
PubMedID: 27354281
Gene_locus related to this paper: human-LIPA , mouse-1llip

Title : Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report - Kuranobu_2016_Hepatol.Res_46_477
Author(s) : Kuranobu N , Murakami J , Okamoto K , Nishimura R , Murayama K , Takamura A , Umeda T , Eto Y , Kanzaki S
Ref : Hepatol Res , 46 :477 , 2016
PubMedID: 26385844
Gene_locus related to this paper: human-LIPA

Title : The Key Clinical Manifestations of Lysosomal Acid Lipase Deficiency -
Author(s) : Gokce S
Ref : J Pediatr Gastroenterol Nutr , 63 :e39 , 2016
PubMedID: 27149255
Gene_locus related to this paper: human-LIPA

Title : Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency - Frampton_2016_Am.J.Cardiovasc.Drugs_16_461
Author(s) : Frampton JE
Ref : Am J Cardiovasc Drugs , 16 :461 , 2016
PubMedID: 27878737
Gene_locus related to this paper: human-LIPA

Title : Sebelipase alfa: first global approval - Shirley_2015_Drugs_75_1935
Author(s) : Shirley M
Ref : Drugs , 75 :1935 , 2015
PubMedID: 26452566
Gene_locus related to this paper: human-LIPA

Title : Identification and metabolic profiling of patients with lysosomal acid lipase deficiency - Pullinger_2015_J.Clin.Lipidol_9_716
Author(s) : Pullinger CR , Stock EO , Movsesyan I , Malloy MJ , Frost PH , Tripuraneni R , Quinn AG , Ishida BY , Schaefer EJ , Asztalos BF , Kane JP
Ref : J Clin Lipidol , 9 :716 , 2015
PubMedID: 26350820
Gene_locus related to this paper: human-LIPA

Title : Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency - Santillan-Hernandez_2015_World.J.Gastroenterol_21_1001
Author(s) : Santillan-Hernandez Y , Almanza-Miranda E , Xin WW , Goss K , Vera-Loaiza A , Gorraez-de la Mora MT , Pina-Aguilar RE
Ref : World J Gastroenterol , 21 :1001 , 2015
PubMedID: 25624737
Gene_locus related to this paper: human-LIPA

Title : New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease) -
Author(s) : Gomez-Najera M , Barajas-Medina H , Gallegos-Rivas MC , Mendez-Sashida P , Goss KA , Sims KB , Tripuraneni R , Valles-Ayoub Y
Ref : J Pediatr Gastroenterol Nutr , 60 :e22 , 2015
PubMedID: 24048164
Gene_locus related to this paper: human-LIPA

Title : A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency - Burton_2015_N.Engl.J.Med_373_1010
Author(s) : Burton BK , Balwani M , Feillet F , Baric I , Burrow TA , Camarena Grande C , Coker M , Consuelo-Sanchez A , Deegan P , Di Rocco M , Enns GM , Erbe R , Ezgu F , Ficicioglu C , Furuya KN , Kane J , Laukaitis C , Mengel E , Neilan EG , Nightingale S , Peters H , Scarpa M , Schwab KO , Smolka V , Valayannopoulos V , Wood M , Goodman Z , Yang Y , Eckert S , Rojas-Caro S , Quinn AG
Ref : N Engl J Med , 373 :1010 , 2015
PubMedID: 26352813
Gene_locus related to this paper: human-LIPA

Title : Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease - Civallero_2014_Gene_539_154
Author(s) : Civallero G , De Mari J , Bittar C , Burin M , Giugliani R
Ref : Gene , 539 :154 , 2014
PubMedID: 24508470
Gene_locus related to this paper: human-LIPA

Title : A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease - Dairaku_2014_Mol.Genet.Metab_111_193
Author(s) : Dairaku T , Iwamoto T , Nishimura M , Endo M , Ohashi T , Eto Y
Ref : Mol Genet Metab , 111 :193 , 2014
PubMedID: 24295952
Gene_locus related to this paper: human-LIPA

Title : Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency - Valayannopoulos_2014_J.Hepatol_61_1135
Author(s) : Valayannopoulos V , Malinova V , Honzik T , Balwani M , Breen C , Deegan PB , Enns GM , Jones SA , Kane JP , Stock EO , Tripuraneni R , Eckert S , Schneider E , Hamilton G , Middleton MS , Sirlin C , Kessler B , Bourdon C , Boyadjiev SA , Sharma R , Twelves C , Whitley CB , Quinn AG
Ref : Journal of Hepatology , 61 :1135 , 2014
PubMedID: 24993530
Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction - Reiner_2014_Atherosclerosis_235_21
Author(s) : Reiner Z , Guardamagna O , Nair D , Soran H , Hovingh K , Bertolini S , Jones S , Coric M , Calandra S , Hamilton J , Eagleton T , Ros E
Ref : Atherosclerosis , 235 :21 , 2014
PubMedID: 24792990
Gene_locus related to this paper: human-LIPA

Title : Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase gene - Kojima_2013_Hepatol.Res_43_1361
Author(s) : Kojima S , Watanabe N , Takashimizu S , Kagawa T , Shiraishi K , Koizumi J , Hirabayashi K , Ohkubo T , Kamiguchi H , Tsuda M , Mine T
Ref : Hepatol Res , 43 :1361 , 2013
PubMedID: 23675960
Gene_locus related to this paper: human-LIPA

Title : Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations - Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732
Author(s) : Muntoni S , Wiebusch H , Jansen-Rust M , Rust S , Schulte H , Berger K , Pisciotta L , Bertolini S , Funke H , Seedorf U , Assmann G
Ref : Nutr Metab Cardiovasc Dis , 23 :732 , 2013
PubMedID: 22795295
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease - Bernstein_2013_J.Hepatol_58_1230
Author(s) : Bernstein DL , Hulkova H , Bialer MG , Desnick RJ
Ref : Journal of Hepatology , 58 :1230 , 2013
PubMedID: 23485521
Gene_locus related to this paper: human-LIPA

Title : A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2 - Hamilton_2012_Clin.Chim.Acta_413_1207
Author(s) : Hamilton J , Jones I , Srivastava R , Galloway P
Ref : Clinica Chimica Acta , 413 :1207 , 2012
PubMedID: 22483793
Gene_locus related to this paper: human-LIPA

Title : Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease - Fasano_2012_Mol.Genet.Metab_105_450
Author(s) : Fasano T , Pisciotta L , Bocchi L , Guardamagna O , Assandro P , Rabacchi C , Zanoni P , Filocamo M , Bertolini S , Calandra S
Ref : Mol Genet Metab , 105 :450 , 2012
PubMedID: 22227072
Gene_locus related to this paper: human-LIPA

Title : Structural bases of Wolman disease and cholesteryl ester storage disease - Saito_2012_Mol.Genet.Metab_105_244
Author(s) : Saito S , Ohno K , Suzuki T , Sakuraba H
Ref : Mol Genet Metab , 105 :244 , 2012
PubMedID: 22138108
Gene_locus related to this paper: human-LIPA

Title : [Wolman disease with novel mutation of LIPA gene in a Chinese infant] - Huang_2012_Zhonghua.Er.Ke.Za.Zhi_50_601
Author(s) : Huang YL , Sheng HY , Zhao XY , Yu JK , Li L , Liu HS , Gu CM , He DM , Liu L
Ref : Zhonghua Er Ke Za Zhi , 50 :601 , 2012
PubMedID: 23158738
Gene_locus related to this paper: human-LIPA

Title : Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease - Bowden_2011_J.Biol.Chem_286_30624
Author(s) : Bowden KL , Bilbey NJ , Bilawchuk LM , Boadu E , Sidhu R , Ory DS , Du H , Chan T , Francis GA
Ref : Journal of Biological Chemistry , 286 :30624 , 2011
PubMedID: 21757691
Gene_locus related to this paper: human-LIPA

Title : A case of cholesterol ester storage disease with hyperlipidemia and liver dysfunction -
Author(s) : Yorifuji T , Ide M , Nagai S
Ref : Clinical Endocrinology (Oxf) , 58 (Suppl) :187 , 2010
PubMedID:
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene - Pisciotta_2009_Mol.Genet.Metab_97_143
Author(s) : Pisciotta L , Fresa R , Bellocchio A , Pino E , Guido V , Cantafora A , Di Rocco M , Calandra S , Bertolini S
Ref : Mol Genet Metab , 97 :143 , 2009
PubMedID: 19307143
Gene_locus related to this paper: human-LIPA

Title : A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease - Hooper_2008_Clin.Chim.Acta_398_152
Author(s) : Hooper AJ , Tran HA , Formby MR , Burnett JR
Ref : Clinica Chimica Acta , 398 :152 , 2008
PubMedID: 18775687
Gene_locus related to this paper: human-LIPA

Title : Overexpression of lysosomal acid lipase and other proteins in atherosclerosis - Zschenker_2006_J.Biochem_140_23
Author(s) : Zschenker O , Illies T , Ameis D
Ref : J Biochem , 140 :23 , 2006
PubMedID: 16877765
Gene_locus related to this paper: human-LIPA

Title : Systematic mutagenesis of potential glycosylation sites of lysosomal acid lipase - Zschenker_2005_J.Biochem_137_387
Author(s) : Zschenker O , Bahr C , Hess UF , Ameis D
Ref : J Biochem , 137 :387 , 2005
PubMedID: 15809341
Gene_locus related to this paper: human-LIPA

Title : Complete sequencing and characterization of 21,243 full-length human cDNAs - Ota_2004_Nat.Genet_36_40
Author(s) : Ota T , Suzuki Y , Nishikawa T , Otsuki T , Sugiyama T , Irie R , Wakamatsu A , Hayashi K , Sato H , Nagai K , Kimura K , Makita H , Sekine M , Obayashi M , Nishi T , Shibahara T , Tanaka T , Ishii S , Yamamoto J , Saito K , Kawai Y , Isono Y , Nakamura Y , Nagahari K , Murakami K , Yasuda T , Iwayanagi T , Wagatsuma M , Shiratori A , Sudo H , Hosoiri T , Kaku Y , Kodaira H , Kondo H , Sugawara M , Takahashi M , Kanda K , Yokoi T , Furuya T , Kikkawa E , Omura Y , Abe K , Kamihara K , Katsuta N , Sato K , Tanikawa M , Yamazaki M , Ninomiya K , Ishibashi T , Yamashita H , Murakawa K , Fujimori K , Tanai H , Kimata M , Watanabe M , Hiraoka S , Chiba Y , Ishida S , Ono Y , Takiguchi S , Watanabe S , Yosida M , Hotuta T , Kusano J , Kanehori K , Takahashi-Fujii A , Hara H , Tanase TO , Nomura Y , Togiya S , Komai F , Hara R , Takeuchi K , Arita M , Imose N , Musashino K , Yuuki H , Oshima A , Sasaki N , Aotsuka S , Yoshikawa Y , Matsunawa H , Ichihara T , Shiohata N , Sano S , Moriya S , Momiyama H , Satoh N , Takami S , Terashima Y , Suzuki O , Nakagawa S , Senoh A , Mizoguchi H , Goto Y , Shimizu F , Wakebe H , Hishigaki H , Watanabe T , Sugiyama A , Takemoto M , Kawakami B , Watanabe K , Kumagai A , Itakura S , Fukuzumi Y , Fujimori Y , Komiyama M , Tashiro H , Tanigami A , Fujiwara T , Ono T , Yamada K , Fujii Y , Ozaki K , Hirao M , Ohmori Y , Kawabata A , Hikiji T , Kobatake N , Inagaki H , Ikema Y , Okamoto S , Okitani R , Kawakami T , Noguchi S , Itoh T , Shigeta K , Senba T , Matsumura K , Nakajima Y , Mizuno T , Morinaga M , Sasaki M , Togashi T , Oyama M , Hata H , Komatsu T , Mizushima-Sugano J , Satoh T , Shirai Y , Takahashi Y , Nakagawa K , Okumura K , Nagase T , Nomura N , Kikuchi H , Masuho Y , Yamashita R , Nakai K , Yada T , Ohara O , Isogai T , Sugano S
Ref : Nat Genet , 36 :40 , 2004
PubMedID: 14702039
Gene_locus related to this paper: human-ABHD1 , human-ABHD4 , human-ABHD12 , human-ABHD16A , human-ACOT1 , human-LDAH , human-ABHD18 , human-CES1 , human-CES4A , human-CES5A , human-CPVL , human-DAGLB , human-EPHX2 , human-KANSL3 , human-LIPA , human-LPL , human-MEST , human-NDRG1 , human-NLGN1 , human-NLGN4X , human-PRCP , human-PRSS16 , human-SERAC1 , human-TMEM53

Title : The DNA sequence and comparative analysis of human chromosome 10 - Deloukas_2004_Nature_429_375
Author(s) : Deloukas P , Earthrowl ME , Grafham DV , Rubenfield M , French L , Steward CA , Sims SK , Jones MC , Searle S , Scott C , Howe K , Hunt SE , Andrews TD , Gilbert JG , Swarbreck D , Ashurst JL , Taylor A , Battles J , Bird CP , Ainscough R , Almeida JP , Ashwell RI , Ambrose KD , Babbage AK , Bagguley CL , Bailey J , Banerjee R , Bates K , Beasley H , Bray-Allen S , Brown AJ , Brown JY , Burford DC , Burrill W , Burton J , Cahill P , Camire D , Carter NP , Chapman JC , Clark SY , Clarke G , Clee CM , Clegg S , Corby N , Coulson A , Dhami P , Dutta I , Dunn M , Faulkner L , Frankish A , Frankland JA , Garner P , Garnett J , Gribble S , Griffiths C , Grocock R , Gustafson E , Hammond S , Harley JL , Hart E , Heath PD , Ho TP , Hopkins B , Horne J , Howden PJ , Huckle E , Hynds C , Johnson C , Johnson D , Kana A , Kay M , Kimberley AM , Kershaw JK , Kokkinaki M , Laird GK , Lawlor S , Lee HM , Leongamornlert DA , Laird G , Lloyd C , Lloyd DM , Loveland J , Lovell J , Mclaren S , McLay KE , McMurray A , Mashreghi-Mohammadi M , Matthews L , Milne S , Nickerson T , Nguyen M , Overton-Larty E , Palmer SA , Pearce AV , Peck AI , Pelan S , Phillimore B , Porter K , Rice CM , Rogosin A , Ross MT , Sarafidou T , Sehra HK , Shownkeen R , Skuce CD , Smith M , Standring L , Sycamore N , Tester J , Thorpe A , Torcasso W , Tracey A , Tromans A , Tsolas J , Wall M , Walsh J , Wang H , Weinstock K , West AP , Willey DL , Whitehead SL , Wilming L , Wray PW , Young L , Chen Y , Lovering RC , Moschonas NK , Siebert R , Fechtel K , Bentley D , Durbin R , Hubbard T , Doucette-Stamm L , Beck S , Smith DR , Rogers J
Ref : Nature , 429 :375 , 2004
PubMedID: 15164054
Gene_locus related to this paper: human-LIPA , human-LIPK , human-PNLIPRP1 , human-PNLIPRP2 , human-PNLIPRP3

Title : The sequence of the human genome - Venter_2001_Science_291_1304
Author(s) : Venter JC , Adams MD , Myers EW , Li PW , Mural RJ , Sutton GG , Smith HO , Yandell M , Evans CA , Holt RA , Gocayne JD , Amanatides P , Ballew RM , Huson DH , Wortman JR , Zhang Q , Kodira CD , Zheng XH , Chen L , Skupski M , Subramanian G , Thomas PD , Zhang J , Gabor Miklos GL , Nelson C , Broder S , Clark AG , Nadeau J , McKusick VA , Zinder N , Levine AJ , Roberts RJ , Simon M , Slayman C , Hunkapiller M , Bolanos R , Delcher A , Dew I , Fasulo D , Flanigan M , Florea L , Halpern A , Hannenhalli S , Kravitz S , Levy S , Mobarry C , Reinert K , Remington K , Abu-Threideh J , Beasley E , Biddick K , Bonazzi V , Brandon R , Cargill M , Chandramouliswaran I , Charlab R , Chaturvedi K , Deng Z , Di Francesco V , Dunn P , Eilbeck K , Evangelista C , Gabrielian AE , Gan W , Ge W , Gong F , Gu Z , Guan P , Heiman TJ , Higgins ME , Ji RR , Ke Z , Ketchum KA , Lai Z , Lei Y , Li Z , Li J , Liang Y , Lin X , Lu F , Merkulov GV , Milshina N , Moore HM , Naik AK , Narayan VA , Neelam B , Nusskern D , Rusch DB , Salzberg S , Shao W , Shue B , Sun J , Wang Z , Wang A , Wang X , Wang J , Wei M , Wides R , Xiao C , Yan C , Yao A , Ye J , Zhan M , Zhang W , Zhang H , Zhao Q , Zheng L , Zhong F , Zhong W , Zhu S , Zhao S , Gilbert D , Baumhueter S , Spier G , Carter C , Cravchik A , Woodage T , Ali F , An H , Awe A , Baldwin D , Baden H , Barnstead M , Barrow I , Beeson K , Busam D , Carver A , Center A , Cheng ML , Curry L , Danaher S , Davenport L , Desilets R , Dietz S , Dodson K , Doup L , Ferriera S , Garg N , Gluecksmann A , Hart B , Haynes J , Haynes C , Heiner C , Hladun S , Hostin D , Houck J , Howland T , Ibegwam C , Johnson J , Kalush F , Kline L , Koduru S , Love A , Mann F , May D , McCawley S , McIntosh T , McMullen I , Moy M , Moy L , Murphy B , Nelson K , Pfannkoch C , Pratts E , Puri V , Qureshi H , Reardon M , Rodriguez R , Rogers YH , Romblad D , Ruhfel B , Scott R , Sitter C , Smallwood M , Stewart E , Strong R , Suh E , Thomas R , Tint NN , Tse S , Vech C , Wang G , Wetter J , Williams S , Williams M , Windsor S , Winn-Deen E , Wolfe K , Zaveri J , Zaveri K , Abril JF , Guigo R , Campbell MJ , Sjolander KV , Karlak B , Kejariwal A , Mi H , Lazareva B , Hatton T , Narechania A , Diemer K , Muruganujan A , Guo N , Sato S , Bafna V , Istrail S , Lippert R , Schwartz R , Walenz B , Yooseph S , Allen D , Basu A , Baxendale J , Blick L , Caminha M , Carnes-Stine J , Caulk P , Chiang YH , Coyne M , Dahlke C , Mays A , Dombroski M , Donnelly M , Ely D , Esparham S , Fosler C , Gire H , Glanowski S , Glasser K , Glodek A , Gorokhov M , Graham K , Gropman B , Harris M , Heil J , Henderson S , Hoover J , Jennings D , Jordan C , Jordan J , Kasha J , Kagan L , Kraft C , Levitsky A , Lewis M , Liu X , Lopez J , Ma D , Majoros W , McDaniel J , Murphy S , Newman M , Nguyen T , Nguyen N , Nodell M , Pan S , Peck J , Peterson M , Rowe W , Sanders R , Scott J , Simpson M , Smith T , Sprague A , Stockwell T , Turner R , Venter E , Wang M , Wen M , Wu D , Wu M , Xia A , Zandieh A , Zhu X
Ref : Science , 291 :1304 , 2001
PubMedID: 11181995
Gene_locus related to this paper: human-AADAC , human-ABHD1 , human-ABHD10 , human-ABHD11 , human-ACHE , human-BCHE , human-LDAH , human-ABHD18 , human-CMBL , human-ABHD17A , human-KANSL3 , human-LIPA , human-LYPLAL1 , human-NDRG2 , human-NLGN3 , human-NLGN4X , human-NLGN4Y , human-PAFAH2 , human-PREPL , human-RBBP9 , human-SPG21

Title : Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase - Tietge_2001_Hum.Gene.Ther_12_279
Author(s) : Tietge UJ , Sun G , Czarnecki S , Yu Q , Lohse P , Du H , Grabowski GA , Glick JM , Rader DJ
Ref : Hum Gene Therapy , 12 :279 , 2001
PubMedID: 11177564
Gene_locus related to this paper: human-LIPA

Title : Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease - Zschenker_2001_J.Lipid.Res_42_1033
Author(s) : Zschenker O , Jung N , Rethmeier J , Trautwein S , Hertel S , Zeigler M , Ameis D
Ref : J Lipid Res , 42 :1033 , 2001
PubMedID: 11441129
Gene_locus related to this paper: human-LIPA

Title : Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease - Lohse_2000_J.Lipid.Res_41_23
Author(s) : Lohse P , Maas S , Elleder M , Kirk JM , Besley GT , Seidel D
Ref : J Lipid Res , 41 :23 , 2000
PubMedID: 10627498
Gene_locus related to this paper: human-LIPA

Title : Wolman disease successfully treated by bone marrow transplantation - Krivit_2000_Bone.Marrow.Transplant_26_567
Author(s) : Krivit W , Peters C , Dusenbery K , Ben-Yoseph Y , Ramsay NK , Wagner JE , Anderson R
Ref : Bone Marrow Transplant , 26 :567 , 2000
PubMedID: 11019848
Gene_locus related to this paper: human-LIPA

Title : Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer - Elleder_2000_J.Hepatol_32_528
Author(s) : Elleder M , Chlumska A , Hyanek J , Poupetova H , Ledvinova J , Maas S , Lohse P
Ref : Journal of Hepatology , 32 :528 , 2000
PubMedID: 10735626
Gene_locus related to this paper: human-LIPA

Title : Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease - Lohse_1999_J.Lipid.Res_40_221
Author(s) : Lohse P , Maas S , Sewell AC , van Diggelen OP , Seidel D
Ref : J Lipid Res , 40 :221 , 1999
PubMedID: 9925650
Gene_locus related to this paper: human-LIPA

Title : Fatal genetic defect causing Wolman disease. -
Author(s) : Mayatepek E , Seedorf U , Wiebusch H , Lenhartz H , Assmann G
Ref : J Inherit Metab Dis , 22 :93 , 1999
PubMedID: 10070628
Gene_locus related to this paper: human-LIPA

Title : Inhibition of the acid lipase activity by apolipoprotein A-I in the presence of lysosomal proteases - Inoue_1999_Biosci.Biotechnol.Biochem_63_937
Author(s) : Inoue Y , Ose T , Mukai S , Ehira S , Yonekura M , Hou DX , Fujii M
Ref : Biosci Biotechnol Biochem , 63 :937 , 1999
PubMedID: 10419291
Gene_locus related to this paper: human-LIPA , ratno-1llip

Title : Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease - Anderson_1999_Mol.Genet.Metab_68_333
Author(s) : Anderson RA , Bryson GM , Parks JS
Ref : Mol Genet Metab , 68 :333 , 1999
PubMedID: 10562460
Gene_locus related to this paper: human-LIPA

Title : Transcriptional regulation of lysosomal acid lipase in differentiating monocytes is mediated by transcription factors Sp1 and AP-2 - Ries_1998_J.Lipid.Res_39_2125
Author(s) : Ries S , Buchler C , Langmann T , Fehringer P , Aslanidis C , Schmitz G
Ref : J Lipid Res , 39 :2125 , 1998
PubMedID: 9799798
Gene_locus related to this paper: human-LIPA

Title : A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease - Redonnet-Vernhet_1998_Hum.Mutat_11_335
Author(s) : Redonnet-Vernhet I , Chatelut M , Salvayre R , Levade T
Ref : Hum Mutat , 11 :335 , 1998
PubMedID: 9554751
Gene_locus related to this paper: human-LIPA

Title : Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals - Ries_1998_Hum.Mutat_12_44
Author(s) : Ries S , Buchler C , Schindler G , Aslanidis C , Ameis D , Gasche C , Jung N , Schambach A , Fehringer P , Vanier MT , Belli DC , Greten H , Schmitz G
Ref : Hum Mutat , 12 :44 , 1998
PubMedID: 9633819
Gene_locus related to this paper: human-LIPA

Title : New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease - Pagani_1998_J.Lipid.Res_39_1382
Author(s) : Pagani F , Pariyarath R , Garcia R , Stuani C , Burlina AB , Ruotolo G , Rabusin M , Baralle FE
Ref : J Lipid Res , 39 :1382 , 1998
PubMedID: 9684740
Gene_locus related to this paper: human-LIPA

Title : Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase - Rothe_1997_Atherosclerosis_130_215
Author(s) : Rothe G , Stohr J , Fehringer P , Gasche C , Schmitz G
Ref : Atherosclerosis , 130 :215 , 1997
PubMedID: 9126667
Gene_locus related to this paper: human-LIPA

Title : Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase - Redonnet-Vernhet_1997_Biochem.Mol.Med_62_42
Author(s) : Redonnet-Vernhet I , Chatelut M , Basile JP , Salvayre R , Levade T
Ref : Biochemical & Molecular Medicine , 62 :42 , 1997
PubMedID: 9367797
Gene_locus related to this paper: human-LIPA

Title : A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred - Ries_1996_J.Lipid.Res_37_1761
Author(s) : Ries S , Aslanidis C , Fehringer P , Carel JC , Gendrel D , Schmitz G
Ref : J Lipid Res , 37 :1761 , 1996
PubMedID: 8864960
Gene_locus related to this paper: human-LIPA

Title : A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease -
Author(s) : Fujiyama J , Sakuraba H , Kuriyama M , Fujita T , Nagata K , Nakagawa H , Osame M
Ref : Hum Mutat , 8 :377 , 1996
PubMedID: 8956047
Gene_locus related to this paper: human-LIPA

Title : Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein - Du_1996_J.Lipid.Res_37_937
Author(s) : Du H , Witte DP , Grabowski GA
Ref : J Lipid Res , 37 :937 , 1996
PubMedID: 8725147
Gene_locus related to this paper: human-LIPA , mouse-1llip

Title : Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease - Pagani_1996_Hum.Mol.Genet_5_1611
Author(s) : Pagani F , Garcia R , Pariyarath R , Stuani C , Gridelli B , Paone G , Baralle FE
Ref : Hum Mol Genet , 5 :1611 , 1996
PubMedID: 8894696
Gene_locus related to this paper: human-LIPA

Title : Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity - Aslanidis_1996_Genomics_33_85
Author(s) : Aslanidis C , Ries S , Fehringer P , Buchler C , Klima H , Schmitz G
Ref : Genomics , 33 :85 , 1996
PubMedID: 8617513
Gene_locus related to this paper: human-LIPA

Title : A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease - Ameis_1995_J.Lipid.Res_36_241
Author(s) : Ameis D , Brockmann G , Knoblich R , Merkel M , Ostlund RE, Jr. , Yang JW , Coates PM , Cortner JA , Feinman SV , Greten H
Ref : J Lipid Res , 36 :241 , 1995
PubMedID: 7751811
Gene_locus related to this paper: human-LIPA

Title : A novel variant of lysosomal acid lipase (Leu336-->\;Pro) associated with acid lipase deficiency and cholesterol ester storage disease - Seedorf_1995_Arterioscler.Thromb.Vasc.Biol_15_773
Author(s) : Seedorf U , Wiebusch H , Muntoni S , Christensen NC , Skovby F , Nickel V , Roskos M , Funke H , Ose L , Assmann G
Ref : Arterioscler Thromb Vasc Biol , 15 :773 , 1995
PubMedID: 7773732
Gene_locus related to this paper: human-LIPA

Title : [Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease] - Tanaka_1995_Nihon.Rinsho_53_3004
Author(s) : Tanaka A
Ref : Nihon Rinsho , 53 :3004 , 1995
PubMedID: 8577049
Gene_locus related to this paper: human-LIPA

Title : Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression - Sheriff_1995_J.Biol.Chem_270_27766
Author(s) : Sheriff S , Du H , Grabowski GA
Ref : Journal of Biological Chemistry , 270 :27766 , 1995
PubMedID: 7499245
Gene_locus related to this paper: human-LIPA

Title : A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease - Pagani_1994_Hum.Mol.Genet_3_1605
Author(s) : Pagani F , Zagato L , Merati G , Paone G , Gridelli B , Maier JA
Ref : Hum Mol Genet , 3 :1605 , 1994
PubMedID: 7833918
Gene_locus related to this paper: human-LIPA

Title : Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase - Ameis_1994_Eur.J.Biochem_219_905
Author(s) : Ameis D , Merkel M , Eckerskorn C , Greten H
Ref : European Journal of Biochemistry , 219 :905 , 1994
PubMedID: 8112342
Gene_locus related to this paper: human-LIPA

Title : Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease - Anderson_1994_Proc.Natl.Acad.Sci.U.S.A_91_2718
Author(s) : Anderson RA , Byrum RS , Coates PM , Sando GN
Ref : Proceedings of the National Academy of Sciences of the United States of America , 91 :2718 , 1994
PubMedID: 8146180
Gene_locus related to this paper: human-LIPA

Title : A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease - Klima_1993_J.Clin.Invest_92_2713
Author(s) : Klima H , Ullrich K , Aslanidis C , Fehringer P , Lackner KJ , Schmitz G
Ref : J Clinical Investigation , 92 :2713 , 1993
PubMedID: 8254026
Gene_locus related to this paper: human-LIPA

Title : Cloning and expression of cDNA encoding human lysosomal acid lipase\/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases - Anderson_1991_J.Biol.Chem_266_22479
Author(s) : Anderson RA , Sando GN
Ref : Journal of Biological Chemistry , 266 :22479 , 1991
PubMedID: 1718995
Gene_locus related to this paper: human-LIPA

Title : Genetic variation of lysosomal acid lipase - Cortner_1976_Pediatr.Res_10_927
Author(s) : Cortner JA , Coates PM , Swoboda E , Schnatz JD
Ref : Pediatr Res , 10 :927 , 1976
PubMedID: 10546
Gene_locus related to this paper: human-LIPA