Homo sapiens (Human) PREPL Prolylendopeptidase-like KIAA0436
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
AGLACGDTCS PLRASGSPAC LHWFVSRAGL ILSICDLQPV KQENEKPLPE NMDAFEKVRT KLETQPQEEY EIINVEVKHG GFVYYQEGCC LVRSKDEEAD NDNYEVLFNL EELKLDQPFI DCIRVAPDEK YVAAKIRTED SEASTCVIIK LSDQPVMEAS FPNVSSFEWV KDEEDEDVLF YTFQRNLRCH DVYRATFGDN KRNERFYTEK DPSYFVFLYL TKDSRFLTIN IMNKTTSEVW LIDGLSPWDP PVLIQKRIHG VLYYVEHRDD ELYILTNVGE PTEFKLMRTA ADTPAIMNWD LFFTMKRNTK VIDLDMFKDH CVLFLKHSNL LYVNVIGLAD DSVRSLKLPP WACGFIMDTN SDPKNCPFQL CSPIRPPKYY TYKFAEGKLF EETGHEDPIT KTSRVLRLEA KSKDGKLVPM TVFHKTDSED LQKKPLLVHV YGAYGMDLKM NFRPERRVLV DDGWILAYCH VRGGGELGLQ WHADGRLTKK LNGLADLEAC IKTLHGQGFS QPSLTTLTAF SAGGVLAGAL CNSNPELVRA VTLEAPFLDV LNTMMDTTLP LTLEELEEWG NPSSDEKHKN YIKRYCPYQN IKPQHYPSIH ITAYENDERV PLKGIVSYTE KLKEAIAEHA KDTGEGYQTP NIILDIQPGG NHVIEDSHKK ITAQIKFLYE ELGLDSTSVF EDLKKYLKF
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 : Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis - Duarte_2023_Mol.Pharmacol_104_1 |
Author(s) : Duarte ML , Wang M , Gomes I , Liu C , Sharma A , Fakira AK , Gupta A , Mack SM , Zhang B , Devi LA |
Ref : Molecular Pharmacology , 104 :1 , 2023 |
Abstract : Duarte_2023_Mol.Pharmacol_104_1 |
ESTHER : Duarte_2023_Mol.Pharmacol_104_1 |
PubMedSearch : Duarte_2023_Mol.Pharmacol_104_1 |
PubMedID: 37147110 |
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 : 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 : 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 : 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 : A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings - Shchagina_2020_Genes.(Basel)_11_821 |
Author(s) : Shchagina O , Bessonova L , Bychkov I , Beskorovainaya T , Poliakov A |
Ref : Genes (Basel) , 11 :821 , 2020 |
Abstract : Shchagina_2020_Genes.(Basel)_11_821 |
ESTHER : Shchagina_2020_Genes.(Basel)_11_821 |
PubMedSearch : Shchagina_2020_Genes.(Basel)_11_821 |
PubMedID: 32707643 |
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 : Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders - Kim_2020_J.Clin.Med_9_3724 |
Author(s) : Kim MJ , Yum MS , Seo GH , Lee Y , Jang HN , Ko TS , Lee BH |
Ref : J Clin Med , 9 : , 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: 33233562 |
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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 |