Functional requirements for fukutin-related protein in the Golgi apparatus
about
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionDemonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activityThe glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylationGolgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?Glycosylation defects: a new mechanism for muscular dystrophy?Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complexLGMD2I in a North American populationEfficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP GenePost-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Protein O-mannosylation: conserved from bacteria to humans.Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalyNew FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesThe o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Congenital muscular dystrophies involving the O-mannose pathway.Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functionsMuscular dystrophies due to glycosylation defects.Identification of novel MYO18A interaction partners required for myoblast adhesion and muscle integrity.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Neuromuscular disorders in zebrafish: state of the art and future perspectives.Mammalian O-mannosylation pathway: glycan structures, enzymes, and protein substrates.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateFinding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.Recent advancements in understanding mammalian O-mannosylation.The effects of post-translational processing on dystroglycan synthesis and trafficking.Mouse models of human ocular disease for translational research.Expression and purification of the transmembrane domain of Fukutin-I for biophysical studies.Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy.Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.rAAV6-microdystrophin rescues aberrant Golgi complex organization in mdx skeletal muscles.Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice.Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycanAsymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
P2860
Q21089946-C5306FEE-0A8D-409B-B284-5F4B2BEB69E7Q24303491-D33839B8-DA86-4A1A-82DA-960001E2EF3AQ24305058-01B15D33-4AC8-4023-82DD-C234B053D41BQ28289846-D3ECBB7B-C756-49F9-9251-F46073ABE952Q28587952-E7E9E938-58B4-4FA7-B3CD-AA5BC8BC8CC2Q28589925-FD109A0C-90C0-4033-BD6E-550D33476B0AQ33307069-96A136EC-B930-4931-9B29-66CC86EF62E0Q33633266-4257792D-EFC8-4CF3-9145-98704D6F3FABQ34756344-7E2D904C-E398-4846-AEE2-002515035D31Q34980261-49242D11-1042-4B21-BBC8-2F968E2F3FF9Q36451494-DEC080E5-2293-4872-879D-1982048C1F1CQ36462720-F71717BB-D722-4928-8E2C-10684F73B25DQ36666131-1D8FE07F-8EB2-48AD-A873-121A79D3B3F9Q36855555-FC5D25A1-856D-45B7-92CF-27F625B92D63Q36902560-0CE4563A-94A0-4F41-B47F-8490C8DCF709Q36919737-AD882FE3-35F4-4E3B-B6E0-4C86B6BD961CQ37254859-AB149218-479C-4447-B74B-7C1B2FF1F71AQ37329563-00FCBD50-BD72-4BF8-AB7C-AECFE818CB33Q37400109-83F56391-3926-4962-8211-5BC5A67ED5ABQ37528083-0CCADF0E-0772-43D1-875F-396B19836B87Q38098929-281A0632-7E17-4F8C-A156-DE6D66D53B71Q38208557-1402DEE0-AC02-4FD3-BCF8-5AF2097CA557Q38213016-5795B38B-F7F4-48A6-8EBF-2ADA0D9EEB25Q38240078-D16E1901-F842-40D1-ACEF-56B7B0054955Q38253968-47D09B1B-234F-4019-AA31-FE03F73D19E6Q38584853-EB4DF1E9-E205-4BFB-80CC-9D9AF27FFD19Q40092479-821911F2-ADF7-4FAB-A276-8B582F888FEDQ40611934-A3D165E6-344A-4DD3-95FE-A463E8C25EA1Q41577738-477A32D1-8613-4E7B-A25C-B307A3D2D9C9Q42428573-2DAE18AE-4989-4DD3-81C0-F75110EF06CDQ42687793-30F07FF5-1E7B-4128-9818-EE33B6493859Q48104215-1E629CF5-3CD9-4C1E-A66F-F391F867DF8DQ49685437-B373AB4A-0796-4221-94B5-850FEF888D0DQ50911860-6D917828-22EB-4221-B64B-34BC2948CD46Q51065374-002926A8-F236-4A63-807F-AADDFE84976EQ52150565-174F484E-8C18-4026-8FFE-497E7102AD25Q52581401-080CBFC4-9A74-473C-96E7-E61D0A18C16EQ55440689-EDE0EB88-17E1-453C-85BE-935F63BDAC79Q56504431-07071003-583C-4A81-857E-C67CB4A33DC1Q58052175-4DD08288-9FF6-4A69-88BD-F0FC83ED7138
P2860
Functional requirements for fukutin-related protein in the Golgi apparatus
description
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Dezember 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2002/12/15)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd op 2002/12/15)
@nl
наукова стаття, опублікована в грудні 2002
@uk
مقالة علمية (نشرت في 15-12-2002)
@ar
name
Functional requirements for fukutin-related protein in the Golgi apparatus
@ast
Functional requirements for fukutin-related protein in the Golgi apparatus
@en
Functional requirements for fukutin-related protein in the Golgi apparatus
@nl
type
label
Functional requirements for fukutin-related protein in the Golgi apparatus
@ast
Functional requirements for fukutin-related protein in the Golgi apparatus
@en
Functional requirements for fukutin-related protein in the Golgi apparatus
@nl
prefLabel
Functional requirements for fukutin-related protein in the Golgi apparatus
@ast
Functional requirements for fukutin-related protein in the Golgi apparatus
@en
Functional requirements for fukutin-related protein in the Golgi apparatus
@nl
P2093
P50
P921
P3181
P356
P1476
Functional requirements for fukutin-related protein in the Golgi apparatus
@en
P2093
Chris T. Esapa
Derek J. Blake
Enca Martin-Rendon
Jörn E. Schröder
Matthew A. Benson
Stephan Kröger
P304
P3181
P356
10.1093/HMG/11.26.3319
P577
2002-12-15T00:00:00Z