human-PPT1
Homo sapiens (Human) palmitoyl-protein thioesterase (PPT) CLN1
Comment
Palmitoyl-protein thioesterase (PPT1) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. PPT is thought to be involved in the catabolism of lipid-modified proteins (Camp et al., 1994).The genes PPT1 and CLN2 (607998), which are mutant in Infantile neuronal ceroid lipofuscinosis. Insensitive to commonly used serine-modifying reagents phenylmethylsulfonyl fluoride (PMSF) and diisopropylfluorophosphate. See paper of structure of bovine enzyme 1EXW (Das et al. 2000) NCL Mutation and Patient Database NCL<\/A>. Mutations in at least 13 different genes (called CLNs) underlie various forms of neuronal ceroid lipofuscinoses (NCLs), a group of the most common neurodegenerative lysosomal storage diseases. The CLN1 gene encodes palmitoyl-protein thioesterases-1 (PPT1). Mutations cause infantile NCL (INCL)
Relationship
Family : Palmitoyl-protein_thioesterase
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 EMolecular evidence
C152X_human-PPT1
C152Y_human-PPT1
C45Y_human-PPT1
C46dup_human-PPT1
C6WfsX25_human-PPT1
C96Y_human-PPT1
D79G_human-PPT1
E178V_human-PPT1
E184K_human-PPT1
E260Kfs35X_human-PPT1
E59RfsX12_human-PPT1
F225S_human-PPT1
F85del_human-PPT1
G108R_human-PPT1
G118D_human-PPT1
G250V_human-PPT1
G42E_human-PPT1
G42_G306delinsAKLR_human-PPT1
H187R_human-PPT1
H39Q_human-PPT1
I134T_human-PPT1
IVS1+1G>A_human-PPT1
IVS1-15T>G_human-PPT1
IVS1-2A>G_human-PPT1
IVS2+1G>A_human-PPT1
IVS2-3T>C_human-PPT1
IVS3+61C>T_human-PPT1
IVS3-16C>G_human-PPT1
IVS3-3T>C_human-PPT1
IVS3-3T>G_human-PPT1
IVS3-4G>A_human-PPT1
IVS4+79A>G_human-PPT1
IVS5+1G>A_human-PPT1
IVS5+2T>C_human-PPT1
IVS6+1G>A_human-PPT1
IVS6-1G>T_human-PPT1
IVS7-2A>T_human-PPT1
K104X_human-PPT1
K55X_human-PPT1
L10X_human-PPT1
L180PfsX9_human-PPT1
L219Q_human-PPT1
L222P_human-PPT1
L305P_human-PPT1
L7HfsX21_human-PPT1
M133RfsX4_human-PPT1
M1I_human-PPT1
M57NfsX45_human-PPT1
P189R_human-PPT1
Q177E_human-PPT1
Q182X_human-PPT1
Q259TfsX36_human-PPT1
Q291X_human-PPT1
Q91P_human-PPT1
Q91_C96delinsF_human-PPT1
R122W_human-PPT1
R151X_human-PPT1
R164X_human-PPT1
S138L_human-PPT1
S241L_human-PPT1
T75P_human-PPT1
V181L_human-PPT1
V181M_human-PPT1
V228G_human-PPT1
W186X_human-PPT1
W296R_human-PPT1
W296X_human-PPT1
W36C_human-PPT1
W38CfsX12_human-PPT1
W38X_human-PPT1
Y109D_human-PPT1
Y215SfsX5_human-PPT1
Y247H_human-PPT1
No kinetic
No substrate
Database
Sequence
Peptide
MASPGCLWLL AVALLPWTCA SRALQHLDPP APLPLVIWHG MGDSCCNPLS MGAIKKMVEK KIPGIYVLSL EIGKTLMEDV ENSFFLNVNS QVTTVCQALA KDPKLQQGYN AMGFSQGGQF LRAVAQRCPS PPMINLISVG GQHQGVFGLP RCPGESSHIC DFIRKTLNAG AYSKVVQERL VQAEYWHDPI KEDVYRNHSI FLADINQERG INESYKKNLM ALKKFVMVKF LNDSIVDPVD SEWFGFYRSG QAKETIPLQE TSLYTQDRLG LKEMDNAGQL VFLATEGDHL QLSEEWFYAH IIPFLG
References (110)
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| Author(s) : Singh S , Ahmad F , Aruri H , Das S , Parajuli P , Gavande NS , Singh PK , Kumar A |
| Ref : Virus Res , 347 :199419 , 2024 |
| Abstract : |
| PubMedSearch : Singh_2024_Virus.Res_347_199419 |
| PubMedID: 38880335 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Enhancing Gpx1 palmitoylation to inhibit angiogenesis by targeting PPT1 - Ma_2024_Redox.Biol_77_103376 |
| Author(s) : Ma Y , Yuan X , Wei A , Li X , Patar A , Su S , Wang S , Ma G , Zhu J , Kong E |
| Ref : Redox Biol , 77 :103376 , 2024 |
| Abstract : |
| PubMedSearch : Ma_2024_Redox.Biol_77_103376 |
| PubMedID: 39423458 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Divergent effects of acute and chronic PPT1 inhibition in melanoma - Crissey_2024_Autophagy__1 |
| Author(s) : Crissey MAS , Versace A , Bhardwaj M , Jain V , Liu S , Singh A , Beer LA , Tang HY , Villanueva J , Gimotty PA , Xu X , Amaravadi RK |
| Ref : Autophagy , :1 , 2024 |
| Abstract : |
| PubMedSearch : Crissey_2024_Autophagy__1 |
| PubMedID: 39265628 |
| Gene_locus related to this paper: human-PPT1 |
| Title : DIRAS3 induces autophagy and enhances sensitivity to anti-autophagic therapy in KRAS-driven pancreatic and ovarian carcinomas - Bildik_2024_Autophagy_20_675 |
| Author(s) : Bildik G , Gray JP , Mao W , Yang H , Ozyurt R , Orellana VR , De Wever O , Carey MS , Bast RC , Lu Z |
| Ref : Autophagy , 20 :675 , 2024 |
| Abstract : |
| PubMedSearch : Bildik_2024_Autophagy_20_675 |
| PubMedID: 38169324 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mechanism of autophagy mediated by IGF-1 signaling pathway in the neurotoxicity of lead in pubertal rats - Zhang_2023_Ecotoxicol.Environ.Saf_251_114557 |
| Author(s) : Zhang B , Li H , Wang Y , Li Y , Zhou Z , Hou X , Zhang X , Liu T |
| Ref : Ecotoxicology & Environmental Safety , 251 :114557 , 2023 |
| Abstract : |
| PubMedSearch : Zhang_2023_Ecotoxicol.Environ.Saf_251_114557 |
| PubMedID: 36652739 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Intratumoral PPT1-positive macrophages determine immunosuppressive contexture and immunotherapy response in hepatocellular carcinoma - Weng_2023_J.Immunother.Cancer_11_ |
| Author(s) : Weng J , Liu S , Zhou Q , Xu W , Xu M , Gao D , Shen Y , Yi Y , Shi Y , Dong Q , Zhou C , Ren N |
| Ref : J Immunother Cancer , 11 : , 2023 |
| Abstract : |
| PubMedSearch : Weng_2023_J.Immunother.Cancer_11_ |
| PubMedID: 37385725 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Lysosomal lipid peroxidation mediates immunogenic cell death - Phadatare_2023_J.Clin.Invest_133_ |
| Author(s) : Phadatare P , Debnath J |
| Ref : J Clinical Investigation , 133 : , 2023 |
| Abstract : |
| PubMedSearch : Phadatare_2023_J.Clin.Invest_133_ |
| PubMedID: 37066873 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Advances of Protein Palmitoylation in Tumor Cell Deaths - Lin_2023_Cancers.(Basel)_15_ |
| Author(s) : Lin X , Shi Y , Zhan Y , Xing Y , Li Y , Zhou Z , Chen G |
| Ref : Cancers (Basel) , 15 : , 2023 |
| Abstract : |
| PubMedSearch : Lin_2023_Cancers.(Basel)_15_ |
| PubMedID: 38067206 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Targeting UGCG Overcomes Resistance to Lysosomal Autophagy Inhibition - Jain_2023_Cancer.Discov_13_454 |
| Author(s) : Jain V , Harper SL , Versace AM , Fingerman D , Brown GS , Bhardwaj M , Crissey MAS , Goldman AR , Ruthel G , Liu Q , Zivkovic A , Stark H , Herlyn M , Gimotty PA , Speicher DW , Amaravadi RK |
| Ref : Cancer Discov , 13 :454 , 2023 |
| Abstract : |
| PubMedSearch : Jain_2023_Cancer.Discov_13_454 |
| PubMedID: 36331284 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Lysosomal lipid peroxidation regulates tumor immunity - Bhardwaj_2023_J.Clin.Invest_133_ |
| Author(s) : Bhardwaj M , Lee JJ , Versace AM , Harper SL , Goldman AR , Crissey MAS , Jain V , Singh MP , Vernon M , Aplin AE , Lee S , Morita M , Winkler JD , Liu Q , Speicher DW , Amaravadi RK |
| Ref : J Clinical Investigation , 133 : , 2023 |
| Abstract : |
| PubMedSearch : Bhardwaj_2023_J.Clin.Invest_133_ |
| PubMedID: 36795483 |
| Gene_locus related to this paper: human-PPT1 |
| Title : GNS561, a clinical-stage PPT1 inhibitor, is efficient against hepatocellular carcinoma via modulation of lysosomal functions - Brun_2022_Autophagy_18_678 |
| Author(s) : Brun S , Bestion E , Raymond E , Bassissi F , Jilkova ZM , Mezouar S , Rachid M , Novello M , Tracz J , Hama A , Lalmanach G , Vanderlynden L , Legouffe R , Stauber J , Schubert T , Plach MG , Courcambeck J , Drouot C , Jacquemot G , Serdjebi C , Roth G , Baudoin JP , Ansaldi C , Decaens T , Halfon P |
| Ref : Autophagy , 18 :678 , 2022 |
| Abstract : |
| PubMedSearch : Brun_2022_Autophagy_18_678 |
| PubMedID: 34740311 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Ppt1-deficiency dysregulates lysosomal Ca(++) homeostasis contributing to pathogenesis in a mouse model of CLN1 disease - Mondal_2022_J.Inherit.Metab.Dis_45_635 |
| Author(s) : Mondal A , Appu AP , Sadhukhan T , Bagh MB , Previde RM , Sadhukhan S , Stojilkovic S , Liu A , Mukherjee AB |
| Ref : J Inherit Metab Dis , 45 :635 , 2022 |
| Abstract : |
| PubMedSearch : Mondal_2022_J.Inherit.Metab.Dis_45_635 |
| PubMedID: 35150145 |
| Gene_locus related to this paper: human-PPT1 , mouse-ppt |
| Title : Poly (ADP-ribose) polymerase 1-mediated defective mitophagy contributes to painful diabetic neuropathy in the db\/db model - Yuan_2022_J.Neurochem_162_276 |
| Author(s) : Yuan P , Song F , Zhu P , Fan K , Liao Q , Huang L , Liu Z |
| Ref : Journal of Neurochemistry , 162 :276 , 2022 |
| Abstract : |
| PubMedSearch : Yuan_2022_J.Neurochem_162_276 |
| PubMedID: 35263449 |
| Gene_locus related to this paper: human-PPT1 |
| Title : High PPT1 expression predicts poor clinical outcome and PPT1 inhibitor DC661 enhances sorafenib sensitivity in hepatocellular carcinoma - Xu_2022_Cancer.Cell.Int_22_115 |
| Author(s) : Xu J , Su Z , Cheng X , Hu S , Wang W , Zou T , Zhou X , Song Z , Xia Y , Gao Y , Zheng Q |
| Ref : Cancer Cell Int , 22 :115 , 2022 |
| Abstract : |
| PubMedSearch : Xu_2022_Cancer.Cell.Int_22_115 |
| PubMedID: 35277179 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL) - Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89 |
| Author(s) : Thirumal Kumar D , Shaikh N , Udhaya Kumar S , George Priya Doss C |
| Ref : Advances in Protein Chemistry Struct Biol , 132 :89 , 2022 |
| Abstract : |
| PubMedSearch : Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89 |
| PubMedID: 36088080 |
| Gene_locus related to this paper: human-PPT1 |
| Title : PPT1 inhibition enhances the antitumor activity of anti-PD-1 antibody in melanoma - Sharma_2020_JCI.Insight_5_ |
| Author(s) : Sharma G , Ojha R , Noguera-Ortega E , Rebecca VW , Attanasio J , Liu S , Piao S , Lee JJ , Nicastri MC , Harper SL , Ronghe A , Jain V , Winkler JD , Speicher DW , Mastio J , Gimotty PA , Xu X , Wherry EJ , Gabrilovich DI , Amaravadi RK |
| Ref : JCI Insight , 5 : , 2020 |
| Abstract : |
| PubMedSearch : Sharma_2020_JCI.Insight_5_ |
| PubMedID: 32780726 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Human leukocytes differentially express endocannabinoid-glycerol lipases and hydrolyze 2-arachidonoyl-glycerol and its metabolites from the 15-lipoxygenase and cyclooxygenase pathways - Turcotte_2019_J.Leukoc.Biol_106_1337 |
| Author(s) : Turcotte C , Dumais E , Archambault AS , Martin C , Blanchet MR , Bissonnette E , Boulet LP , Laviolette M , Di Marzo V , Flamand N |
| Ref : J Leukoc Biol , 106 :1337 , 2019 |
| Abstract : |
| PubMedSearch : Turcotte_2019_J.Leukoc.Biol_106_1337 |
| PubMedID: 31556464 |
| Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-ABHD16A , human-CES1 , human-LYPLA2 , human-PPT1 |
| Title : Depalmitoylation by Palmitoyl-Protein Thioesterase 1 in Neuronal Health and Degeneration - Koster_2019_Front.Synaptic.Neurosci_11_25 |
| Author(s) : Koster KP , Yoshii A |
| Ref : Front Synaptic Neurosci , 11 :25 , 2019 |
| Abstract : |
| PubMedSearch : Koster_2019_Front.Synaptic.Neurosci_11_25 |
| PubMedID: 31555119 |
| Gene_locus related to this paper: human-PPT1 |
| Title : The Interactome of Palmitoyl-Protein Thioesterase 1 (PPT1) Affects Neuronal Morphology and Function - Sapir_2019_Front.Cell.Neurosci_13_92 |
| Author(s) : Sapir T , Segal M , Grigoryan G , Hansson KM , James P , Reiner O |
| Ref : Front Cell Neurosci , 13 :92 , 2019 |
| Abstract : |
| PubMedSearch : Sapir_2019_Front.Cell.Neurosci_13_92 |
| PubMedID: 30918483 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Thioesterase PPT1 balances viral resistance and efficient T cell crosspriming in dendritic cells - Ou_2019_J.Exp.Med_216_2091 |
| Author(s) : Ou P , Wen L , Liu X , Huang J , Huang X , Su C , Wang L , Ni H , Reizis B , Yang CY |
| Ref : J Exp Med , 216 :2091 , 2019 |
| Abstract : |
| PubMedSearch : Ou_2019_J.Exp.Med_216_2091 |
| PubMedID: 31262842 |
| Gene_locus related to this paper: human-PPT1 , mouse-ppt |
| Title : Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome - Appu_2019_J.Inherit.Metab.Dis_42_944 |
| Author(s) : Appu AP , Bagh MB , Sadhukhan T , Mondal A , Casey S , Mukherjee AB |
| Ref : J Inherit Metab Dis , 42 :944 , 2019 |
| Abstract : |
| PubMedSearch : Appu_2019_J.Inherit.Metab.Dis_42_944 |
| PubMedID: 31025705 |
| Gene_locus related to this paper: human-PPT1 |
| Title : PPT1 Promotes Tumor Growth and Is the Molecular Target of Chloroquine Derivatives in Cancer - Rebecca_2019_Cancer.Discov_9_220 |
| Author(s) : Rebecca VW , Nicastri MC , Fennelly C , Chude CI , Barber-Rotenberg JS , Ronghe A , McAfee Q , McLaughlin NP , Zhang G , Goldman AR , Ojha R , Piao S , Noguera-Ortega E , Martorella A , Alicea GM , Lee JJ , Schuchter LM , Xu X , Herlyn M , Marmorstein R , Gimotty PA , Speicher DW , Winkler JD , Amaravadi RK |
| Ref : Cancer Discov , 9 :220 , 2019 |
| Abstract : |
| PubMedSearch : Rebecca_2019_Cancer.Discov_9_220 |
| PubMedID: 30442709 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Detection of Infantile Batten Disease by Tandem Mass Spectrometry Assay of PPT1 Enzyme Activity in Dried Blood Spots - Khaledi_2018_Anal.Chem_90_12168 |
| Author(s) : Khaledi H , Liu Y , Masi S , Gelb MH |
| Ref : Analytical Chemistry , 90 :12168 , 2018 |
| Abstract : |
| PubMedSearch : Khaledi_2018_Anal.Chem_90_12168 |
| PubMedID: 30204428 |
| Gene_locus related to this paper: human-PPT1 |
| Title : The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells - Pezzini_2017_Front.Mol.Neurosci_10_266 |
| Author(s) : Pezzini F , Bianchi M , Benfatto S , Griggio F , Doccini S , Carrozzo R , Dapkunas A , Delledonne M , Santorelli FM , Lalowski MM , Simonati A |
| Ref : Front Mol Neurosci , 10 :266 , 2017 |
| Abstract : |
| PubMedSearch : Pezzini_2017_Front.Mol.Neurosci_10_266 |
| PubMedID: 28878621 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia - Meyer_2017_Metab.Brain.Dis_32_275 |
| Author(s) : Meyer M , Kovacs AD , Pearce DA |
| Ref : Metabolic Brain Disease , 32 :275 , 2017 |
| Abstract : |
| PubMedSearch : Meyer_2017_Metab.Brain.Dis_32_275 |
| PubMedID: 27722792 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model - Bagh_2017_Nat.Commun_8_14612 |
| Author(s) : Bagh MB , Peng S , Chandra G , Zhang Z , Singh SP , Pattabiraman N , Liu A , Mukherjee AB |
| Ref : Nat Commun , 8 :14612 , 2017 |
| Abstract : |
| PubMedSearch : Bagh_2017_Nat.Commun_8_14612 |
| PubMedID: 28266544 |
| Gene_locus related to this paper: human-PPT1 , mouse-ppt |
| Title : Neuronal ceroid lipofuscinosis with DNAJC5\/CSPalpha mutation has PPT1 pathology and exhibit aberrant protein palmitoylation - Henderson_2016_Acta.Neuropathol_131_621 |
| Author(s) : Henderson MX , Wirak GS , Zhang YQ , Dai F , Ginsberg SD , Dolzhanskaya N , Staropoli JF , Nijssen PC , Lam TT , Roth AF , Davis NG , Dawson G , Velinov M , Chandra SS |
| Ref : Acta Neuropathologica , 131 :621 , 2016 |
| Abstract : |
| PubMedSearch : Henderson_2016_Acta.Neuropathol_131_621 |
| PubMedID: 26659577 |
| Gene_locus related to this paper: human-PPT1 |
| Title : BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE - Metelitsina_2016_Retin.Cases.Brief.Rep_10_211 |
| Author(s) : Metelitsina TI , Waggoner DJ , Grassi MA |
| Ref : Retin Cases Brief Rep , 10 :211 , 2016 |
| Abstract : |
| PubMedSearch : Metelitsina_2016_Retin.Cases.Brief.Rep_10_211 |
| PubMedID: 26510000 |
| Gene_locus related to this paper: human-PPT1 |
| Title : A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1 - Niida_2016_Brain.Dev_38_674 |
| Author(s) : Niida Y , Yokoi A , Kuroda M , Mitani Y , Nakagawa H , Ozaki M |
| Ref : Brain Dev , 38 :674 , 2016 |
| Abstract : |
| PubMedSearch : Niida_2016_Brain.Dev_38_674 |
| PubMedID: 26846731 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis - Sleat_2016_Gene_593_284 |
| Author(s) : Sleat DE , Gedvilaite E , Zhang Y , Lobel P , Xing J |
| Ref : Gene , 593 :284 , 2016 |
| Abstract : |
| PubMedSearch : Sleat_2016_Gene_593_284 |
| PubMedID: 27553520 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Reversible Cysteine Acylation Regulates the Activity of Human Palmitoyl-Protein Thioesterase 1 (PPT1) - Segal-Salto_2016_PLoS.One_11_e0146466 |
| Author(s) : Segal-Salto M , Sapir T , Reiner O |
| Ref : PLoS ONE , 11 :e0146466 , 2016 |
| Abstract : |
| PubMedSearch : Segal-Salto_2016_PLoS.One_11_e0146466 |
| PubMedID: 26731412 |
| Gene_locus related to this paper: human-PPT1 |
| Title : The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina - Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| Author(s) : Kohan R , Pesaola F , Guelbert N , Pons P , Oller-Ramirez AM , Rautenberg G , Becerra A , Sims K , Xin W , Cismondi IA , Noher de Halac I |
| Ref : Biochimica & Biophysica Acta , 1852 :2301 , 2015 |
| Abstract : |
| PubMedSearch : Kohan_2015_Biochim.Biophys.Acta_1852_2301 |
| PubMedID: 25976102 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells - Scifo_2015_J.Proteomics_123_42 |
| Author(s) : Scifo E , Szwajda A , Soliymani R , Pezzini F , Bianchi M , Dapkunas A , Debski J , Uusi-Rauva K , Dadlez M , Gingras AC , Tyynela J , Simonati A , Jalanko A , Baumann MH , Lalowski M |
| Ref : J Proteomics , 123 :42 , 2015 |
| Abstract : |
| PubMedSearch : Scifo_2015_J.Proteomics_123_42 |
| PubMedID: 25865307 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Quantitative analysis of PPT1 interactome in human neuroblastoma cells - Scifo_2015_Data.Brief_4_207 |
| Author(s) : Scifo E , Szwajda A , Soliymani R , Pezzini F , Bianchi M , Dapkunas A , Debski J , Uusi-Rauva K , Dadlez M , Gingras AC , Tyynela J , Simonati A , Jalanko A , Baumann MH , Lalowski M |
| Ref : Data Brief , 4 :207 , 2015 |
| Abstract : |
| PubMedSearch : Scifo_2015_Data.Brief_4_207 |
| PubMedID: 26217791 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Human pathology in NCL - Anderson_2013_Biochim.Biophys.Acta_1832_1807 |
| Author(s) : Anderson GW , Goebel HH , Simonati A |
| Ref : Biochimica & Biophysica Acta , 1832 :1807 , 2013 |
| Abstract : |
| PubMedSearch : Anderson_2013_Biochim.Biophys.Acta_1832_1807 |
| PubMedID: 23200925 |
| Gene_locus related to this paper: human-PPT1 |
| Title : A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis - Miller_2013_J.Child.Neurol_28_1106 |
| Author(s) : Miller JN , Pearce DA |
| Ref : Journal of Child Neurology , 28 :1106 , 2013 |
| Abstract : |
| PubMedSearch : Miller_2013_J.Child.Neurol_28_1106 |
| PubMedID: 23857568 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy - Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| Author(s) : Santorelli FM , Garavaglia B , Cardona F , Nardocci N , Bernardina BD , Sartori S , Suppiej A , Bertini E , Claps D , Battini R , Biancheri R , Filocamo M , Pezzini F , Simonati A |
| Ref : Orphanet J Rare Dis , 8 :19 , 2013 |
| Abstract : |
| PubMedSearch : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedID: 23374165 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases - Setty_2013_J.Pediatr.Neurosci_8_117 |
| Author(s) : Setty G , Saleem R , Khan A , Hussain N |
| Ref : J Pediatr Neurosci , 8 :117 , 2013 |
| Abstract : |
| PubMedSearch : Setty_2013_J.Pediatr.Neurosci_8_117 |
| PubMedID: 24082928 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Identification of palmitoyl protein thioesterase 1 in human THP1 monocytes and macrophages and characterization of unique biochemical activities for this enzyme - Wang_2013_Biochemistry_52_7559 |
| Author(s) : Wang R , Borazjani A , Matthews AT , Mangum LC , Edelmann MJ , Ross MK |
| Ref : Biochemistry , 52 :7559 , 2013 |
| Abstract : |
| PubMedSearch : Wang_2013_Biochemistry_52_7559 |
| PubMedID: 24083319 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses - Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| Author(s) : Warrier V , Vieira M , Mole SE |
| Ref : Biochimica & Biophysica Acta , 1832 :1827 , 2013 |
| Abstract : |
| PubMedSearch : Warrier_2013_Biochim.Biophys.Acta_1832_1827 |
| PubMedID: 23542453 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis - Kamate_2012_Pediatr.Neurol_46_325 |
| Author(s) : Kamate M , Hattiholi V |
| Ref : Pediatr Neurol , 46 :325 , 2012 |
| Abstract : |
| PubMedSearch : Kamate_2012_Pediatr.Neurol_46_325 |
| PubMedID: 22520356 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses - Kousi_2012_Hum.Mutat_33_42 |
| Author(s) : Kousi M , Lehesjoki AE , Mole SE |
| Ref : Hum Mutat , 33 :42 , 2012 |
| Abstract : |
| PubMedSearch : Kousi_2012_Hum.Mutat_33_42 |
| PubMedID: 21990111 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series - Perez-Poyato_2012_Gene_499_297 |
| Author(s) : Perez Poyato MS , Mila Recansens M , Ferrer Abizanda I , Domingo Jimenez R , Lopez Lafuente A , Cusi Sanchez V , Rodriguez-Revenga L , Coll Rosell MJ , Gort L , Poo Arguelles P , Pineda Marfa M |
| Ref : Gene , 499 :297 , 2012 |
| Abstract : |
| PubMedSearch : Perez-Poyato_2012_Gene_499_297 |
| PubMedID: 22387303 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function - Getty_2011_Cell.Mol.Life.Sci_68_453 |
| Author(s) : Getty AL , Pearce DA |
| Ref : Cell Mol Life Sciences , 68 :453 , 2011 |
| Abstract : |
| PubMedSearch : Getty_2011_Cell.Mol.Life.Sci_68_453 |
| PubMedID: 20680390 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses - Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| Author(s) : Kohan R , Cismondi IA , Oller-Ramirez AM , Guelbert N , Anzolini TV , Alonso G , Mole SE , de Kremer DR , de Halac NI |
| Ref : Curr Pharm Biotechnol , 12 :867 , 2011 |
| Abstract : |
| PubMedSearch : Kohan_2011_Curr.Pharm.Biotechnol_12_867 |
| PubMedID: 21235444 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients - Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| Author(s) : Perez-Poyato MS , Mila Recansens M , Ferrer Abizanda I , Montero Sanchez R , Rodriguez-Revenga L , Cusi Sanchez V , Garcia Gonzalez MM , Domingo Jimenez R , Camino Leon R , Velazquez Fragua R , Martinez-Bermejo A , Pineda Marfa M |
| Ref : J Inherit Metab Dis , 34 :1083 , 2011 |
| Abstract : |
| PubMedSearch : Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| PubMedID: 21499717 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Involvement of the mitochondrial compartment in human NCL fibroblasts - Pezzini_2011_Biochem.Biophys.Res.Commun_416_159 |
| Author(s) : Pezzini F , Gismondi F , Tessa A , Tonin P , Carrozzo R , Mole SE , Santorelli FM , Simonati A |
| Ref : Biochemical & Biophysical Research Communications , 416 :159 , 2011 |
| Abstract : |
| PubMedSearch : Pezzini_2011_Biochem.Biophys.Res.Commun_416_159 |
| PubMedID: 22100646 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Novel human pathological mutations. Gene symbol: PPT1. Disease: neuronal ceroid lipofuscinosis, juvenile - |
| Author(s) : Mueller OT , Coovadia A |
| Ref : Hum Genet , 127 :490 , 2010 |
| PubMedID: 21491624 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Structural basis of neuronal ceroid lipofuscinosis 1 - Ohno_2010_Brain.Dev_32_524 |
| Author(s) : Ohno K , Saito S , Sugawara K , Suzuki T , Togawa T , Sakuraba H |
| Ref : Brain Dev , 32 :524 , 2010 |
| Abstract : |
| PubMedSearch : Ohno_2010_Brain.Dev_32_524 |
| PubMedID: 19793631 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease - Dawson_2010_Biochem.Biophys.Res.Commun_395_66 |
| Author(s) : Dawson G , Schroeder C , Dawson PE |
| Ref : Biochemical & Biophysical Research Communications , 395 :66 , 2010 |
| Abstract : |
| PubMedSearch : Dawson_2010_Biochem.Biophys.Res.Commun_395_66 |
| PubMedID: 20346914 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Protein acyl thioesterases (Review) - Zeidman_2009_Mol.Membr.Biol_26_32 |
| Author(s) : Zeidman R , Jackson CS , Magee AI |
| Ref : Mol Membr Biol , 26 :32 , 2009 |
| Abstract : |
| PubMedSearch : Zeidman_2009_Mol.Membr.Biol_26_32 |
| PubMedID: 19115143 |
| Gene_locus related to this paper: human-LYPLA1 , human-PPT1 |
| Title : An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients - Kohan_2009_Clin.Genet_76_372 |
| Author(s) : Kohan R , Cismondi IA , Kremer RD , Muller VJ , Guelbert N , Anzolini VT , Fietz MJ , Ramirez AM , Halac IN |
| Ref : Clin Genet , 76 :372 , 2009 |
| Abstract : |
| PubMedSearch : Kohan_2009_Clin.Genet_76_372 |
| PubMedID: 19793312 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations - Simonati_2009_Pediatr.Neurol_40_271 |
| Author(s) : Simonati A , Tessa A , Bernardina BD , Biancheri R , Veneselli E , Tozzi G , Bonsignore M , Grosso S , Piemonte F , Santorelli FM |
| Ref : Pediatr Neurol , 40 :271 , 2009 |
| Abstract : |
| PubMedSearch : Simonati_2009_Pediatr.Neurol_40_271 |
| PubMedID: 19302939 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis - Tardy_2009_Biochim.Biophys.Acta_1793_1250 |
| Author(s) : Tardy C , Sabourdy F , Garcia V , Jalanko A , Therville N , Levade T , Andrieu-Abadie N |
| Ref : Biochimica & Biophysica Acta , 1793 :1250 , 2009 |
| Abstract : |
| PubMedSearch : Tardy_2009_Biochim.Biophys.Acta_1793_1250 |
| PubMedID: 19345705 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice - Kim_2008_J.Clin.Invest_118_3075 |
| Author(s) : Kim SJ , Zhang Z , Sarkar C , Tsai PC , Lee YC , Dye L , Mukherjee AB |
| Ref : J Clinical Investigation , 118 :3075 , 2008 |
| Abstract : |
| PubMedSearch : Kim_2008_J.Clin.Invest_118_3075 |
| PubMedID: 18704195 |
| Gene_locus related to this paper: mouse-ppt , human-PPT1 |
| Title : RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis - Saha_2008_FEBS.Lett_582_3823 |
| Author(s) : Saha A , Kim SJ , Zhang Z , Lee YC , Sarkar C , Tsai PC , Mukherjee AB |
| Ref : FEBS Letters , 582 :3823 , 2008 |
| Abstract : |
| PubMedSearch : Saha_2008_FEBS.Lett_582_3823 |
| PubMedID: 18948101 |
| Gene_locus related to this paper: mouse-ppt , human-PPT1 |
| Title : Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1 - |
| Author(s) : Ramadan H , Al-Din AS , Ismail A , Balen F , Varma A , Twomey A , Watts R , Jackson M , Anderson G , Green E , Mole SE |
| Ref : Neurology , 68 :387 , 2007 |
| PubMedID: 17261688 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency - Kalviainen_2007_Eur.J.Neurol_14_369 |
| Author(s) : Kalviainen R , Eriksson K , Losekoot M , Sorri I , Harvima I , Santavuori P , Jarvela I , Autti T , Vanninen R , Salmenpera T , van Diggelen OP |
| Ref : Eur Journal of Neurology , 14 :369 , 2007 |
| Abstract : |
| PubMedSearch : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedID: 17388982 |
| Gene_locus related to this paper: human-PPT1 |
| Title : [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis] - Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| Author(s) : Bi HY , Yao S , Bu DF , Wang ZX , Zhang Y , Qin J , Yang YL , Yuan Y |
| Ref : Zhonghua Er Ke Za Zhi , 44 :496 , 2006 |
| Abstract : |
| PubMedSearch : Bi_2006_Zhonghua.Er.Ke.Za.Zhi_44_496 |
| PubMedID: 17044973 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis - Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| Author(s) : Bonsignore M , Tessa A , Di Rosa G , Piemonte F , Dionisi-Vici C , Simonati A , Calamoneri F , Tortorella G , Santorelli FM |
| Ref : Eur J Paediatr Neurol , 10 :154 , 2006 |
| Abstract : |
| PubMedSearch : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| PubMedID: 16759889 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins - Kyttala_2006_Biochim.Biophys.Acta_1762_920 |
| Author(s) : Kyttala A , Lahtinen U , Braulke T , Hofmann SL |
| Ref : Biochimica & Biophysica Acta , 1762 :920 , 2006 |
| Abstract : |
| PubMedSearch : Kyttala_2006_Biochim.Biophys.Acta_1762_920 |
| PubMedID: 16839750 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL - Kim_2006_Hum.Mol.Genet_15_1826 |
| Author(s) : Kim SJ , Zhang Z , Hitomi E , Lee YC , Mukherjee AB |
| Ref : Hum Mol Genet , 15 :1826 , 2006 |
| Abstract : |
| PubMedSearch : Kim_2006_Hum.Mol.Genet_15_1826 |
| PubMedID: 16644870 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses - |
| Author(s) : Kohan R , Noher de Halac I , Tapia Anzolini V , Cismondi A , Oller Ramirez AM , Paschini Capra A , de Kremer RD |
| Ref : Clinical Biochemistry , 38 :492 , 2005 |
| PubMedID: 15820783 |
| Gene_locus related to this paper: human-PPT1 |
| Title : [From gene to disease\; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis] - Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| Author(s) : Taschner PE , Losekoot M , Breuning MH , Hofman I , van Diggelen OP |
| Ref : Ned Tijdschr Geneeskd , 149 :300 , 2005 |
| Abstract : |
| PubMedSearch : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| PubMedID: 15730038 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Palmitoyl protein thioesterase 1 is targeted to the axons in neurons - Ahtiainen_2003_J.Comp.Neurol_455_368 |
| Author(s) : Ahtiainen L , van Diggelen OP , Jalanko A , Kopra O |
| Ref : Journal of Comparative Neurology , 455 :368 , 2003 |
| Abstract : |
| PubMedSearch : Ahtiainen_2003_J.Comp.Neurol_455_368 |
| PubMedID: 12483688 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population - Teixeira_2003_J.Neurol_250_661 |
| Author(s) : Teixeira C , Guimaraes A , Bessa C , Ferreira MJ , Lopes L , Pinto E , Pinto R , Boustany RM , Sa Miranda MC , Ribeiro MG |
| Ref : Journal of Neurology , 250 :661 , 2003 |
| Abstract : |
| PubMedSearch : Teixeira_2003_J.Neurol_250_661 |
| PubMedID: 12796825 |
| Gene_locus related to this paper: human-PPT1 |
| Title : A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis - Mazzei_2002_J.Neurol_249_1398 |
| Author(s) : Mazzei R , Conforti FL , Magariello A , Bravaccio C , Militerni R , Gabriele AL , Sampaolo S , Patitucci A , Di Iorio G , Muglia M , Quattrone A |
| Ref : Journal of Neurology , 249 :1398 , 2002 |
| Abstract : |
| PubMedSearch : Mazzei_2002_J.Neurol_249_1398 |
| PubMedID: 12382155 |
| Gene_locus related to this paper: human-PPT1 |
| Title : New mutations in the neuronal ceroid lipofuscinosis genes - Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| Author(s) : Mole SE , Zhong NA , Sarpong A , Logan WP , Hofmann S , Yi W , Franken PF , van Diggelen OP , Breuning MH , Moroziewicz D , Ju W , Salonen T , Holmberg V , Jarvela I , Taschner PE |
| Ref : Eur J Paediatr Neurol , 5 Suppl A :7 , 2001 |
| Abstract : |
| PubMedSearch : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedID: 11589012 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice - Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| Author(s) : Gupta P , Soyombo AA , Atashband A , Wisniewski KE , Shelton JM , Richardson JA , Hammer RE , Hofmann SL |
| Ref : Proc Natl Acad Sci U S A , 98 :13566 , 2001 |
| Abstract : |
| PubMedSearch : Gupta_2001_Proc.Natl.Acad.Sci.U.S.A_98_13566 |
| PubMedID: 11717424 |
| Gene_locus related to this paper: mouse-ppt , mouse-PPT2 , human-PPT1 |
| Title : Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL) - Lehtovirta_2001_Hum.Mol.Genet_10_69 |
| Author(s) : Lehtovirta M , Kyttala A , Eskelinen EL , Hess M , Heinonen O , Jalanko A |
| Ref : Hum Mol Genet , 10 :69 , 2001 |
| Abstract : |
| PubMedSearch : Lehtovirta_2001_Hum.Mol.Genet_10_69 |
| PubMedID: 11136716 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease - van Diggelen_2001_Ann.Neurol_50_269 |
| Author(s) : van Diggelen OP , Thobois S , Tilikete C , Zabot MT , Keulemans JL , van Bunderen PA , Taschner PE , Losekoot M , Voznyi YV |
| Ref : Annals of Neurology , 50 :269 , 2001 |
| Abstract : |
| PubMedSearch : van Diggelen_2001_Ann.Neurol_50_269 |
| PubMedID: 11506414 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis - Das_2001_Hum.Mol.Genet_10_1431 |
| Author(s) : Das AK , Lu JY , Hofmann SL |
| Ref : Hum Mol Genet , 10 :1431 , 2001 |
| Abstract : |
| PubMedSearch : Das_2001_Hum.Mol.Genet_10_1431 |
| PubMedID: 11440996 |
| Gene_locus related to this paper: human-PPT1 |
| Title : CLN-encoded proteins do not interact with each other - Zhong_2000_Neurogenetics_3_41 |
| Author(s) : Zhong NA , Moroziewicz DN , Ju W , Wisniewski KE , Jurkiewicz A , Brown WT |
| Ref : Neurogenetics , 3 :41 , 2000 |
| Abstract : |
| PubMedSearch : Zhong_2000_Neurogenetics_3_41 |
| PubMedID: 11085596 |
| Gene_locus related to this paper: human-PPT1 |
| Title : The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis - Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| Author(s) : Bellizzi JJ, 3rd , Widom J , Kemp C , Lu JY , Das AK , Hofmann SL , Clardy J |
| Ref : Proc Natl Acad Sci U S A , 97 :4573 , 2000 |
| Abstract : |
| PubMedSearch : Bellizzi_2000_Proc.Natl.Acad.Sci.U.S.A_97_4573 |
| PubMedID: 10781062 |
| Gene_locus related to this paper: bovin-ppt , human-PPT1 |
| Title : Structural basis for the insensitivity of a serine enzyme (palmitoyl-protein thioesterase) to phenylmethylsulfonyl fluoride - Das_2000_J.Biol.Chem_275_23847 |
| Author(s) : Das AK , Bellizzi JJ, 3rd , Tandel S , Biehl E , Clardy J , Hofmann SL |
| Ref : Journal of Biological Chemistry , 275 :23847 , 2000 |
| Abstract : |
| PubMedSearch : Das_2000_J.Biol.Chem_275_23847 |
| PubMedID: 10801859 |
| Gene_locus related to this paper: bovin-ppt2 , human-PPT1 |
| Title : Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL\;CLN1) - Salonen_2000_Hum.Mutat_15_273 |
| Author(s) : Salonen T , Jarvela I , Peltonen L , Jalanko A |
| Ref : Hum Mutat , 15 :273 , 2000 |
| Abstract : |
| PubMedSearch : Salonen_2000_Hum.Mutat_15_273 |
| PubMedID: 10679943 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis - Waliany_2000_Hum.Mutat_15_206 |
| Author(s) : Waliany S , Das AK , Gaben A , Wisniewski KE , Hofmann SL |
| Ref : Hum Mutat , 15 :206 , 2000 |
| Abstract : |
| PubMedSearch : Waliany_2000_Hum.Mutat_15_206 |
| PubMedID: 10649502 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Expression of palmitoyl protein thioesterase in neurons. - |
| Author(s) : Heinonen O , Kyttala A , Lehmus E , Paunio T , Peltonen L , Jalanko A |
| Ref : Molec Genet Metab , 69 :123 , 2000 |
| PubMedID: |
| Gene_locus related to this paper: human-PPT1 |
| Title : First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis - de Vries_1999_Prenat.Diagn_19_559 |
| Author(s) : de Vries BB , Kleijer WJ , Keulemans JL , Voznyi YV , Franken PF , Eurlings MC , Galjaard RJ , Losekoot M , Catsman-Berrevoets CE , Breuning MH , Taschner PE , van Diggelen OP |
| Ref : Prenat Diagn , 19 :559 , 1999 |
| Abstract : |
| PubMedSearch : de Vries_1999_Prenat.Diagn_19_559 |
| PubMedID: 10416973 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Batten's disease: eight genes and still counting? - |
| Author(s) : Mole SE |
| Ref : Lancet , 354 :443 , 1999 |
| PubMedID: 10465165 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5 - Mole_1999_Hum.Mutat_14_199 |
| Author(s) : Mole SE , Mitchison HM , Munroe PB |
| Ref : Hum Mutat , 14 :199 , 1999 |
| Abstract : |
| PubMedSearch : Mole_1999_Hum.Mutat_14_199 |
| PubMedID: 10477428 |
| Gene_locus related to this paper: human-PPT1 |
| Title : A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants - Voznyi_1999_J.Med.Genet_36_471 |
| Author(s) : Voznyi YV , Keulemans JL , Mancini GM , Catsman-Berrevoets CE , Young E , Winchester B , Kleijer WJ , van Diggelen OP |
| Ref : Journal of Medical Genetics , 36 :471 , 1999 |
| Abstract : |
| PubMedSearch : Voznyi_1999_J.Med.Genet_36_471 |
| PubMedID: 10874636 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland - |
| Author(s) : Munroe PB , Greene ND , Leung KY , Mole SE , Gardiner RM , Mitchison HM , Stephenson JB , Crow YJ |
| Ref : Journal of Medical Genetics , 35 :790 , 1998 |
| PubMedID: 9733046 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291 |
| Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM |
| Ref : Hum Mol Genet , 7 :291 , 1998 |
| Abstract : |
| PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedID: 9425237 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S - Das_1998_J.Clin.Invest_102_361 |
| Author(s) : Das AK , Becerra CH , Yi W , Lu JY , Siakotos AN , Wisniewski KE , Hofmann SL |
| Ref : Journal of Clinical Investigation , 102 :361 , 1998 |
| Abstract : |
| PubMedSearch : Das_1998_J.Clin.Invest_102_361 |
| PubMedID: 9664077 |
| Gene_locus related to this paper: human-PPT1 |
| Title : A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient - Santorelli_1998_Biochem.Biophys.Res.Commun_245_519 |
| Author(s) : Santorelli FM , Bertini E , Petruzzella V , Di Capua M , Calvieri S , Gasparini P , Zeviani M |
| Ref : Biochemical & Biophysical Research Communications , 245 :519 , 1998 |
| Abstract : |
| PubMedSearch : Santorelli_1998_Biochem.Biophys.Res.Commun_245_519 |
| PubMedID: 9571187 |
| Gene_locus related to this paper: human-PPT1 |
| Title : cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis - Schriner_1996_Genomics_34_317 |
| Author(s) : Schriner JE , Yi W , Hofmann SL |
| Ref : Genomics , 34 :317 , 1996 |
| Abstract : |
| PubMedSearch : Schriner_1996_Genomics_34_317 |
| PubMedID: 8786130 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis - Crews_1996_Proc.Natl.Acad.Sci.U.S.A_93_4316 |
| Author(s) : Crews CM , Lane WS , Schreiber SL |
| Ref : Proc Natl Acad Sci U S A , 93 :4316 , 1996 |
| Abstract : |
| PubMedSearch : Crews_1996_Proc.Natl.Acad.Sci.U.S.A_93_4316 |
| PubMedID: 8633062 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase - Lu_1996_Proc.Natl.Acad.Sci.U.S.A_93_10046 |
| Author(s) : Lu JY , Verkruyse LA , Hofmann SL |
| Ref : Proc Natl Acad Sci U S A , 93 :10046 , 1996 |
| Abstract : |
| PubMedSearch : Lu_1996_Proc.Natl.Acad.Sci.U.S.A_93_10046 |
| PubMedID: 8816748 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis - Hellsten_1996_Embo.j_15_5240 |
| Author(s) : Hellsten E , Vesa J , Olkkonen VM , Jalanko A , Peltonen L |
| Ref : EMBO j , 15 :5240 , 1996 |
| Abstract : |
| PubMedSearch : Hellsten_1996_Embo.j_15_5240 |
| PubMedID: 8895569 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis - Sleat_1996_J.Biol.Chem_271_19191 |
| Author(s) : Sleat DE , Sohar I , Lackland H , Majercak J , Lobel P |
| Ref : Journal of Biological Chemistry , 271 :19191 , 1996 |
| Abstract : |
| PubMedSearch : Sleat_1996_J.Biol.Chem_271_19191 |
| PubMedID: 8702598 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus - Hellsten_1995_Genomics_25_404 |
| Author(s) : Hellsten E , Vesa J , Heiskanen M , Makela TP , Jarvela I , Cowell JK , Mead S , Alitalo K , Palotie A , Peltonen L |
| Ref : Genomics , 25 :404 , 1995 |
| Abstract : |
| PubMedSearch : Hellsten_1995_Genomics_25_404 |
| PubMedID: 7789974 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis - Vesa_1995_Nature_376_584 |
| Author(s) : Vesa J , Hellsten E , Verkruyse LA , Camp LA , Rapola J , Santavuori P , Hofmann SL , Peltonen L |
| Ref : Nature , 376 :584 , 1995 |
| Abstract : |
| PubMedSearch : Vesa_1995_Nature_376_584 |
| PubMedID: 7637805 |
| Gene_locus related to this paper: human-PPT1 |
| Title : MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients - Vanhanen_1995_J.Child.Neurol_10_444 |
| Author(s) : Vanhanen SL , Raininko R , Autti T , Santavuori P |
| Ref : Journal of Child Neurology , 10 :444 , 1995 |
| Abstract : |
| PubMedSearch : Vanhanen_1995_J.Child.Neurol_10_444 |
| PubMedID: 8576553 |
| Gene_locus related to this paper: human-PPT1 |
| Title : The neuronal ceroid-lipofuscinoses - Goebel_1995_J.Child.Neurol_10_424 |
| Author(s) : Goebel HH |
| Ref : Journal of Child Neurology , 10 :424 , 1995 |
| Abstract : |
| PubMedSearch : Goebel_1995_J.Child.Neurol_10_424 |
| PubMedID: 8576551 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular cloning and expression of palmitoyl-protein thioesterase - Camp_1994_J.Biol.Chem_269_23212 |
| Author(s) : Camp LA , Verkruyse LA , Afendis SJ , Slaughter CA , Hofmann SL |
| Ref : Journal of Biological Chemistry , 269 :23212 , 1994 |
| Abstract : |
| PubMedSearch : Camp_1994_J.Biol.Chem_269_23212 |
| PubMedID: 7916016 |
| Gene_locus related to this paper: bovin-ppt , ratno-ppt , human-PPT1 |
| Title : Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis - Hellsten_1993_Genomics_16_720 |
| Author(s) : Hellsten E , Vesa J , Speer MC , Makela TP , Jarvela I , Alitalo K , Ott J , Peltonen L |
| Ref : Genomics , 16 :720 , 1993 |
| Abstract : |
| PubMedSearch : Hellsten_1993_Genomics_16_720 |
| PubMedID: 8325646 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Assignment of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) to the short arm of chromosome 1 (Abstract) - |
| Author(s) : Jarvela I , Santavuori P , Vesa J , Rapola J , Palotie A , Peltonen L |
| Ref : Cytogenet Cell Genet , 58 :1856 , 1991 |
| PubMedID: |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus - Jarvela_1991_Genomics_10_333 |
| Author(s) : Jarvela I |
| Ref : Genomics , 10 :333 , 1991 |
| Abstract : |
| PubMedSearch : Jarvela_1991_Genomics_10_333 |
| PubMedID: 2071142 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1 - Jarvela_1991_Genomics_9_170 |
| Author(s) : Jarvela I , Schleutker J , Haataja L , Santavuori P , Puhakka L , Manninen T , Palotie A , Sandkuijl LA , Renlund M , White R , et al. |
| Ref : Genomics , 9 :170 , 1991 |
| Abstract : |
| PubMedSearch : Jarvela_1991_Genomics_9_170 |
| PubMedID: 1672288 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses - Jokiaho_1990_Genomics_8_391 |
| Author(s) : Jokiaho I , Puhakka L , Santavuori P , Manninen T , Nyman K , Peltonen L |
| Ref : Genomics , 8 :391 , 1990 |
| Abstract : |
| PubMedSearch : Jokiaho_1990_Genomics_8_391 |
| PubMedID: 2249855 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Santavuori disease: diagnosis by leukocyte ultrastructure - Baumann_1982_Neurology_32_1277 |
| Author(s) : Baumann RJ , Markesbery WR |
| Ref : Neurology , 32 :1277 , 1982 |
| Abstract : |
| PubMedSearch : Baumann_1982_Neurology_32_1277 |
| PubMedID: 6890163 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis - Becker_1979_Eur.J.Pediatr_132_197 |
| Author(s) : Becker K , Goebel HH , Svennerholm L , Wendel U , Bremer HJ |
| Ref : Eur J Pediatr , 132 :197 , 1979 |
| Abstract : |
| PubMedSearch : Becker_1979_Eur.J.Pediatr_132_197 |
| PubMedID: 510322 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile type of so-called neuronal ceroid-lipofuscinosis - |
| Author(s) : Santavuori P , Haltia M , Rapola J |
| Ref : Dev Med Child Neurol , 16 :644 , 1974 |
| PubMedID: 4371326 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Polyunsaturated fatty acid lipidosis infantile form of so-called neuronal ceroidlipofuscinosis - |
| Author(s) : Hagberg B , Haltia M , Sourander P , Svennerholm L , Eeg-Olofsson O |
| Ref : Acta Paediatr Scand , 63 :753 , 1974 |
| PubMedID: 4415126 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients - |
| Author(s) : Santavuori P , Haltia M , Rapola J , Raitta C |
| Ref : Journal of Neurology Sci , 18 :257 , 1973 |
| PubMedID: 4698309 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies - |
| Author(s) : Haltia M , Rapola J , Santavuori P , Keranen A |
| Ref : Journal of Neurology Sci , 18 :269 , 1973 |
| PubMedID: 4121459 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? - |
| Author(s) : Zeman W , Dyken P |
| Ref : Pediatrics , 44 :570 , 1969 |
| PubMedID: 5346636 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Late infantile progressive encephalopathy with disturbed poly-unsaturated fat metabolism - |
| Author(s) : Hagberg B , Sourander P , Svennerholm L |
| Ref : Acta Paediatr Scand , 57 :495 , 1968 |
| PubMedID: 5706364 |
| Gene_locus related to this paper: human-PPT1 |