human-PREPL

Homo sapiens (Human) PREPL Prolylendopeptidase-like KIAA0436

Comment

"PREPL is localized in the cytosol and shows homology with prolyl endopeptidase (PREP\; 600400) and oligopeptidase B (EC 3.4.21.83). Jaeken et al. (2006) found that substitution of the predicted catalytic residues (ser470, asp556, and his601) by alanines resulted in loss of reactivity with a serine hydrolase-specific probe. In sharp contrast to PREP and oligopeptidase B, which require both amino- and carboxy-terminal sequences for activity, PREPL activity appeared to depend only on the carboxy-terminal domain. Jaeken et al. (2006) concluded that PREPL is a novel oligopeptidase with unique structural and functional characteristics. Trembl Q96DW7 is only a portion of this protein unknown (protein for mgc:21932).(from OMIM): Congenital myasthenic syndrome-22 (CMS22) is caused by homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. Homozygous deletion of both PREPL and the neighboring gene SLC3A1 causes hypotonia-cystinuria syndrome"

Relationship

Family : S9N_PREPL_Peptidase_S9

Block : X

Position in NCBI Life Tree : Homo sapiens

Molecular evidence

No mutation

No kinetic

Database

Sequence

Peptide

AGLACGDTCSPLRASGSPACLHWFVSRAGLILSICDLQPV
KQENEKPLPE NMDAFEKVRTKLETQPQEEYEIINVEVKH
GGFVYYQEGCCLVRSKDEEAD NDNYEVLFNLEELKLDQP
FIDCIRVAPDEKYVAAKIRTEDSEASTCVIIK LSDQPVM
EASFPNVSSFEWVKDEEDEDVLFYTFQRNLRCHDVYRATF
GDN KRNERFYTEKDPSYFVFLYLTKDSRFLTINIMNKTT
SEVWLIDGLSPWDP PVLIQKRIHGVLYYVEHRDDELYIL
TNVGEPTEFKLMRTAADTPAIMNWD LFFTMKRNTKVIDL
DMFKDHCVLFLKHSNLLYVNVIGLADDSVRSLKLPP WAC
GFIMDTNSDPKNCPFQLCSPIRPPKYYTYKFAEGKLFEET
GHEDPIT KTSRVLRLEAKSKDGKLVPMTVFHKTDSEDLQ
KKPLLVHVYGAYGMDLKM NFRPERRVLVDDGWILAYCHV
RGGGELGLQWHADGRLTKKLNGLADLEAC IKTLHGQGFS
QPSLTTLTAFSAGGVLAGALCNSNPELVRAVTLEAPFLDV
LNTMMDTTLPLTLEELEEWGNPSSDEKHKNYIKRYCPYQ
NIKPQHYPSIH ITAYENDERVPLKGIVSYTEKLKEAIAE
HAKDTGEGYQTPNIILDIQPGG NHVIEDSHKKITAQIKF
LYEELGLDSTSVFEDLKKYLKF

References

Title : Genome-wide screens for mitonuclear co-regulators uncover links between compartmentalized metabolism and mitochondrial gene expression - Kramer_2023_bioRxiv__
Author(s) : Kramer NJ , Prakash G , Choquet K , Soto I , Petrova B , Merens HE , Kanarek N , Churchman LS
Ref : Biorxiv , : , 2023
Abstract : Kramer_2023_bioRxiv__
ESTHER : Kramer_2023_bioRxiv__
PubMedSearch : Kramer_2023_bioRxiv__
PubMedID: 36798306
Gene_locus related to this paper: human-PREPL

Title : Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review - Ohno_2023_Int.J.Mol.Sci_24_
Author(s) : Ohno K , Ohkawara B , Shen XM , Selcen D , Engel AG
Ref : Int J Mol Sci , 24 : , 2023
Abstract : Ohno_2023_Int.J.Mol.Sci_24_
ESTHER : Ohno_2023_Int.J.Mol.Sci_24_
PubMedSearch : Ohno_2023_Int.J.Mol.Sci_24_
PubMedID: 36835142
Gene_locus related to this paper: human-PREPL

Title : Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency - Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205
Author(s) : Sayol-Torres L , Valenzuela MI , Tomasini R , Fernandez-Alvarez P , Clemente M , Yeste D
Ref : J Clin Res Pediatr Endocrinol , 15 :205 , 2023
Abstract : Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205
ESTHER : Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205
PubMedSearch : Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205
PubMedID: 34693706
Gene_locus related to this paper: human-PREPL

Title : Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression - Towheed_2021_Ann.Clin.Transl.Neurol_8_2199
Author(s) : Towheed A , Hietanen CL , Kamath VG , Singh LN , Ho A , Engelstad K , Cornett K , Montes J , De Vivo D
Ref : Ann Clin Transl Neurol , 8 :2199 , 2021
Abstract : Towheed_2021_Ann.Clin.Transl.Neurol_8_2199
ESTHER : Towheed_2021_Ann.Clin.Transl.Neurol_8_2199
PubMedSearch : Towheed_2021_Ann.Clin.Transl.Neurol_8_2199
PubMedID: 34612606
Gene_locus related to this paper: human-PREPL

Title : Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function - Rosier_2021_iScience_24_103460
Author(s) : Rosier K , McDevitt MT , Smet J , Floyd BJ , Verschoore M , Marcaida MJ , Bingman CA , Lemmens I , Dal Peraro M , Tavernier J , Cravatt BF , Gounko NV , Vints K , Monnens Y , Bhalla K , Aerts L , Rashan EH , Vanlander AV , Van Coster R , Regal L , Pagliarini DJ , Creemers JWM
Ref : iScience , 24 :103460 , 2021
Abstract : Rosier_2021_iScience_24_103460
ESTHER : Rosier_2021_iScience_24_103460
PubMedSearch : Rosier_2021_iScience_24_103460
PubMedID: 34888501
Gene_locus related to this paper: human-PREPL

Title : Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features - Prior_2021_J.Child.Neurol_36_610
Author(s) : Prior DE , Ghosh PS
Ref : Journal of Child Neurology , 36 :610 , 2021
Abstract : Prior_2021_J.Child.Neurol_36_610
ESTHER : Prior_2021_J.Child.Neurol_36_610
PubMedSearch : Prior_2021_J.Child.Neurol_36_610
PubMedID: 33471587
Gene_locus related to this paper: human-PREPL

Title : PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus - Yang_2020_Front.Genet_11_198
Author(s) : Yang Q , Hua R , Qian J , Yi S , Shen F , Zhang Q , Li M , Luo J , Fan X
Ref : Front Genet , 11 :198 , 2020
Abstract : Yang_2020_Front.Genet_11_198
ESTHER : Yang_2020_Front.Genet_11_198
PubMedSearch : Yang_2020_Front.Genet_11_198
PubMedID: 32218803
Gene_locus related to this paper: human-PREPL

Title : First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant - Zhang_2020_Mol.Genet.Genomic.Med_8_e1144
Author(s) : Zhang P , Wu B , Lu Y , Ni Q , Liu R , Zhou W , Wang H
Ref : Mol Genet Genomic Med , 8 :e1144 , 2020
Abstract : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144
ESTHER : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144
PubMedSearch : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144
PubMedID: 31985178
Gene_locus related to this paper: human-PREPL

Title : Comparison of the Effects of Sugammadex, Neostigmine, and Pyridostigmine on Postoperative Nausea and Vomiting: A Propensity Matched Study of Five Hospitals - Kim_2020_J.Clin.Med_9_3724
Author(s) : Kim JH , Lim MS , Choi JW , Kim H , Kwon YS , Lee JJ
Ref : J Clin Med , 9 :3724 , 2020
Abstract : Kim_2020_J.Clin.Med_9_3724
ESTHER : Kim_2020_J.Clin.Med_9_3724
PubMedSearch : Kim_2020_J.Clin.Med_9_3724
PubMedID: 33126598
Gene_locus related to this paper: human-PREPL

Title : Prolyl Endopeptidase-Like Facilitates the alpha-Synuclein Aggregation Seeding, and This Effect Is Reverted by Serine Peptidase Inhibitor PMSF - Santos_2020_Biomolecules_10_
Author(s) : Santos GS , Oyadomari WY , Carvalho EA , Torquato RS , Oliveira V
Ref : Biomolecules , 10 : , 2020
Abstract : Santos_2020_Biomolecules_10_
ESTHER : Santos_2020_Biomolecules_10_
PubMedSearch : Santos_2020_Biomolecules_10_
PubMedID: 32630529
Gene_locus related to this paper: human-PREPL

Title : TP63-truncating variants cause isolated premature ovarian insufficiency - Tucker_2019_Hum.Mutat_40_886
Author(s) : Tucker EJ , Jaillard S , Grover SR , van den Bergen J , Robevska G , Bell KM , Sadedin S , Hanna C , Dulon J , Touraine P , Sinclair AH
Ref : Hum Mutat , 40 :886 , 2019
Abstract : Tucker_2019_Hum.Mutat_40_886
ESTHER : Tucker_2019_Hum.Mutat_40_886
PubMedSearch : Tucker_2019_Hum.Mutat_40_886
PubMedID: 30924587
Gene_locus related to this paper: human-PREPL

Title : A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement - Taroni_2019_Front.Pediatr_7_127
Author(s) : Taroni F , Capone V , Berrettini A , De Marco EA , Manzoni GA , Montini G
Ref : Front Pediatr , 7 :127 , 2019
Abstract : Taroni_2019_Front.Pediatr_7_127
ESTHER : Taroni_2019_Front.Pediatr_7_127
PubMedSearch : Taroni_2019_Front.Pediatr_7_127
PubMedID: 31024870
Gene_locus related to this paper: human-PREPL

Title : Isolated PREPL deficiency associated with congenital myasthenic syndrome-22 -
Author(s) : Laugwitz L , Redler S , Buchert R , Sturm M , Zeile I , Schara U , Wieczorek D , Haack T , Distelmaier F
Ref : Klin Padiatr , 230 :281 , 2018
PubMedID: 29913539
Gene_locus related to this paper: human-PREPL

Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109
Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM
Ref : Genet Med , 20 :109 , 2018
Abstract : Regal_2018_Genet.Med_20_109
ESTHER : Regal_2018_Genet.Med_20_109
PubMedSearch : Regal_2018_Genet.Med_20_109
PubMedID: 28726805
Gene_locus related to this paper: human-PREPL

Title : The second point mutation in PREPL: a case report and literature review - Silva_2018_J.Hum.Genet_63_677
Author(s) : Silva S , Miyake N , Tapia C , Matsumoto N
Ref : J Hum Genet , 63 :677 , 2018
Abstract : Silva_2018_J.Hum.Genet_63_677
ESTHER : Silva_2018_J.Hum.Genet_63_677
PubMedSearch : Silva_2018_J.Hum.Genet_63_677
PubMedID: 29483676
Gene_locus related to this paper: human-PREPL

Title : Deletion of PREPl causes growth impairment and hypotonia in mice - Lone_2014_PLoS.One_9_e89160
Author(s) : Lone AM , Leidl M , McFedries AK , Horner JW , Creemers J , Saghatelian A
Ref : PLoS ONE , 9 :e89160 , 2014
Abstract : Lone_2014_PLoS.One_9_e89160
ESTHER : Lone_2014_PLoS.One_9_e89160
PubMedSearch : Lone_2014_PLoS.One_9_e89160
PubMedID: 24586561
Gene_locus related to this paper: human-PREPL

Title : PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome - Regal_2014_Neurology_82_1254
Author(s) : Regal L , Shen XM , Selcen D , Verhille C , Meulemans S , Creemers JW , Engel AG
Ref : Neurology , 82 :1254 , 2014
Abstract : Regal_2014_Neurology_82_1254
ESTHER : Regal_2014_Neurology_82_1254
PubMedSearch : Regal_2014_Neurology_82_1254
PubMedID: 24610330
Gene_locus related to this paper: human-PREPL

Title : Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria - Bartholdi_2013_Am.J.Med.Genet.A_161a_1853
Author(s) : Bartholdi D , Asadollahi R , Oneda B , Schmitt-Mechelke T , Tonella P , Baumer A , Rauch A
Ref : American Journal of Medicine Genet A , 161a :1853 , 2013
Abstract : Bartholdi_2013_Am.J.Med.Genet.A_161a_1853
ESTHER : Bartholdi_2013_Am.J.Med.Genet.A_161a_1853
PubMedSearch : Bartholdi_2013_Am.J.Med.Genet.A_161a_1853
PubMedID: 23794250
Gene_locus related to this paper: human-PREPL

Title : Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit 1A - Radhakrishnan_2013_J.Cell.Sci_126_1155
Author(s) : Radhakrishnan K , Baltes J , Creemers JW , Schu P
Ref : Journal of Cell Science , 126 :1155 , 2013
Abstract : Radhakrishnan_2013_J.Cell.Sci_126_1155
ESTHER : Radhakrishnan_2013_J.Cell.Sci_126_1155
PubMedSearch : Radhakrishnan_2013_J.Cell.Sci_126_1155
PubMedID: 23321636
Gene_locus related to this paper: human-PREPL

Title : Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons - Morawski_2013_Neurosci_242_128
Author(s) : Morawski M , Nuytens K , Juhasz T , Zeitschel U , Seeger G , Waelkens E , Regal L , Schulz I , Arendt T , Szeltner Z , Creemers J , Rossner S
Ref : Neuroscience , 242 :128 , 2013
Abstract : Morawski_2013_Neurosci_242_128
ESTHER : Morawski_2013_Neurosci_242_128
PubMedSearch : Morawski_2013_Neurosci_242_128
PubMedID: 23485813
Gene_locus related to this paper: human-PREPL

Title : Two novel deletions in hypotonia-cystinuria syndrome - Regal_2012_Mol.Genet.Metab_107_614
Author(s) : Regal L , Aydin HI , Dieltjens AM , Van Esch H , Francois I , Okur I , Zeybek C , Meulemans S , Van Mol C , Van Bruwaene L , Then SH , Jaeken J , Creemers J
Ref : Mol Genet Metab , 107 :614 , 2012
Abstract : Regal_2012_Mol.Genet.Metab_107_614
ESTHER : Regal_2012_Mol.Genet.Metab_107_614
PubMedSearch : Regal_2012_Mol.Genet.Metab_107_614
PubMedID: 22796000
Gene_locus related to this paper: human-PREPL

Title : A substrate-free activity-based protein profiling screen for the discovery of selective PREPL inhibitors - Lone_2011_J.Am.Chem.Soc_133_11665
Author(s) : Lone AM , Bachovchin DA , Westwood DB , Speers AE , Spicer TP , Fernandez-Vega V , Chase P , Hodder PS , Rosen H , Cravatt BF , Saghatelian A
Ref : Journal of the American Chemical Society , 133 :11665 , 2011
Abstract : Lone_2011_J.Am.Chem.Soc_133_11665
ESTHER : Lone_2011_J.Am.Chem.Soc_133_11665
PubMedSearch : Lone_2011_J.Am.Chem.Soc_133_11665
PubMedID: 21692504
Gene_locus related to this paper: human-PREPL

Title : PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients - Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355
Author(s) : Boonen K , Regal L , Jaeken J , Creemers JW
Ref : CNS Neurol Disord Drug Targets , 10 :355 , 2011
Abstract : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355
ESTHER : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355
PubMedSearch : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355
PubMedID: 21222627
Gene_locus related to this paper: human-PREPL

Title : Pyrrolidinyl pyridone and pyrazinone analogues as potent inhibitors of prolyl oligopeptidase (POP) - Haffner_2008_Bioorg.Med.Chem.Lett_18_4360
Author(s) : Haffner CD , Diaz CJ , Miller AB , Reid RA , Madauss KP , Hassell A , Hanlon MH , Porter DJ , Becherer JD , Carter LH
Ref : Bioorganic & Medicinal Chemistry Lett , 18 :4360 , 2008
Abstract : Haffner_2008_Bioorg.Med.Chem.Lett_18_4360
ESTHER : Haffner_2008_Bioorg.Med.Chem.Lett_18_4360
PubMedSearch : Haffner_2008_Bioorg.Med.Chem.Lett_18_4360
PubMedID: 18606544
Gene_locus related to this paper: human-PREPL

Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2008_J.Med.Genet_45_314
Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW
Ref : Journal of Medical Genetics , 45 :314 , 2008
Abstract : Chabrol_2008_J.Med.Genet_45_314
ESTHER : Chabrol_2008_J.Med.Genet_45_314
PubMedSearch : Chabrol_2008_J.Med.Genet_45_314
PubMedID: 18234729
Gene_locus related to this paper: human-PREPL

Title : Multi-system disorder syndromes associated with cystinuria type I - Martens_2008_Curr.Mol.Med_8_544
Author(s) : Martens K , Jaeken J , Matthijs G , Creemers JW
Ref : Curr Mol Med , 8 :544 , 2008
Abstract : Martens_2008_Curr.Mol.Med_8_544
ESTHER : Martens_2008_Curr.Mol.Med_8_544
PubMedSearch : Martens_2008_Curr.Mol.Med_8_544
PubMedID: 18781961
Gene_locus related to this paper: human-PREPL

Title : Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome - Martens_2007_Eur.J.Hum.Genet_15_1029
Author(s) : Martens K , Heulens I , Meulemans S , Zaffanello M , Tilstra D , Hes FJ , Rooman R , Francois I , de Zegher F , Jaeken J , Matthijs G , Creemers JW
Ref : Eur J Hum Genet , 15 :1029 , 2007
Abstract : Martens_2007_Eur.J.Hum.Genet_15_1029
ESTHER : Martens_2007_Eur.J.Hum.Genet_15_1029
PubMedSearch : Martens_2007_Eur.J.Hum.Genet_15_1029
PubMedID: 17579669
Gene_locus related to this paper: human-PREPL

Title : Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome - Jaeken_2006_Am.J.Hum.Genet_78_38
Author(s) : Jaeken J , Martens K , Francois I , Eyskens F , Lecointre C , Derua R , Meulemans S , Slootstra JW , Waelkens E , de Zegher F , Creemers JW , Matthijs G
Ref : American Journal of Human Genetics , 78 :38 , 2006
Abstract : Jaeken_2006_Am.J.Hum.Genet_78_38
ESTHER : Jaeken_2006_Am.J.Hum.Genet_78_38
PubMedSearch : Jaeken_2006_Am.J.Hum.Genet_78_38
PubMedID: 16385448
Gene_locus related to this paper: human-PREPL

Title : PREPL: a putative novel oligopeptidase propelled into the limelight - Martens_2006_Biol.Chem_387_879
Author(s) : Martens K , Derua R , Meulemans S , Waelkens E , Jaeken J , Matthijs G , Creemers JW
Ref : Biol Chem , 387 :879 , 2006
Abstract : Martens_2006_Biol.Chem_387_879
ESTHER : Martens_2006_Biol.Chem_387_879
PubMedSearch : Martens_2006_Biol.Chem_387_879
PubMedID: 16913837
Gene_locus related to this paper: human-PREPL

Title : Generation and annotation of the DNA sequences of human chromosomes 2 and 4 - Hillier_2005_Nature_434_724
Author(s) : Hillier LW , Graves TA , Fulton RS , Fulton LA , Pepin KH , Minx P , Wagner-McPherson C , Layman D , Wylie K , Sekhon M , Becker MC , Fewell GA , Delehaunty KD , Miner TL , Nash WE , Kremitzki C , Oddy L , Du H , Sun H , Bradshaw-Cordum H , Ali J , Carter J , Cordes M , Harris A , Isak A , Van Brunt A , Nguyen C , Du F , Courtney L , Kalicki J , Ozersky P , Abbott S , Armstrong J , Belter EA , Caruso L , Cedroni M , Cotton M , Davidson T , Desai A , Elliott G , Erb T , Fronick C , Gaige T , Haakenson W , Haglund K , Holmes A , Harkins R , Kim K , Kruchowski SS , Strong CM , Grewal N , Goyea E , Hou S , Levy A , Martinka S , Mead K , McLellan MD , Meyer R , Randall-Maher J , Tomlinson C , Dauphin-Kohlberg S , Kozlowicz-Reilly A , Shah N , Swearengen-Shahid S , Snider J , Strong JT , Thompson J , Yoakum M , Leonard S , Pearman C , Trani L , Radionenko M , Waligorski JE , Wang C , Rock SM , Tin-Wollam AM , Maupin R , Latreille P , Wendl MC , Yang SP , Pohl C , Wallis JW , Spieth J , Bieri TA , Berkowicz N , Nelson JO , Osborne J , Ding L , Sabo A , Shotland Y , Sinha P , Wohldmann PE , Cook LL , Hickenbotham MT , Eldred J , Williams D , Jones TA , She X , Ciccarelli FD , Izaurralde E , Taylor J , Schmutz J , Myers RM , Cox DR , Huang X , McPherson JD , Mardis ER , Clifton SW , Warren WC , Chinwalla AT , Eddy SR , Marra MA , Ovcharenko I , Furey TS , Miller W , Eichler EE , Bork P , Suyama M , Torrents D , Waterston RH , Wilson RK
Ref : Nature , 434 :724 , 2005
Abstract : Hillier_2005_Nature_434_724
ESTHER : Hillier_2005_Nature_434_724
PubMedSearch : Hillier_2005_Nature_434_724
PubMedID: 15815621
Gene_locus related to this paper: human-ABHD1 , human-LDAH , human-ABHD18 , human-KANSL3 , human-PGAP1 , human-PREPL

Title : The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity - Szeltner_2005_Cell.Mol.Life.Sci_62_2376
Author(s) : Szeltner Z , Alshafee I , Juhasz T , Parvari R , Polgar L
Ref : Cell Mol Life Sciences , 62 :2376 , 2005
Abstract : Szeltner_2005_Cell.Mol.Life.Sci_62_2376
ESTHER : Szeltner_2005_Cell.Mol.Life.Sci_62_2376
PubMedSearch : Szeltner_2005_Cell.Mol.Life.Sci_62_2376
PubMedID: 16143824
Gene_locus related to this paper: human-PREPL

Title : The 2p21 deletion syndrome: characterization of the transcription content - Parvari_2005_Genomics_86_195
Author(s) : Parvari R , Gonen Y , Alshafee I , Buriakovsky S , Regev K , Hershkovitz E
Ref : Genomics , 86 :195 , 2005
Abstract : Parvari_2005_Genomics_86_195
ESTHER : Parvari_2005_Genomics_86_195
PubMedSearch : Parvari_2005_Genomics_86_195
PubMedID: 15913950
Gene_locus related to this paper: human-PREPL

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
Abstract : Venter_2001_Science_291_1304
ESTHER : Venter_2001_Science_291_1304
PubMedSearch : Venter_2001_Science_291_1304
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 : A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease - Parvari_2001_Am.J.Hum.Genet_69_869
Author(s) : Parvari R , Brodyansky I , Elpeleg O , Moses S , Landau D , Hershkovitz E
Ref : American Journal of Human Genetics , 69 :869 , 2001
Abstract : Parvari_2001_Am.J.Hum.Genet_69_869
ESTHER : Parvari_2001_Am.J.Hum.Genet_69_869
PubMedSearch : Parvari_2001_Am.J.Hum.Genet_69_869
PubMedID: 11524703
Gene_locus related to this paper: human-PREPL

Title : Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro - Ishikawa_1997_DNA.Res_4_307
Author(s) : Ishikawa K , Nagase T , Nakajima D , Seki N , Ohira M , Miyajima N , Tanaka A , Kotani H , Nomura N , Ohara O
Ref : DNA Research , 4 :307 , 1997
Abstract : Ishikawa_1997_DNA.Res_4_307
ESTHER : Ishikawa_1997_DNA.Res_4_307
PubMedSearch : Ishikawa_1997_DNA.Res_4_307
PubMedID: 9455477
Gene_locus related to this paper: human-PREPL