Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
about
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanEndogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesMutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanCerebral cortex expansion and folding: what have we learned?The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyO-Mannosylation and human diseaseSwimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycanXylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2Dystroglycan organizes axon guidance cue localization and axonal pathfindingThe zebrafish reference genome sequence and its relationship to the human genomeA chemical rescue screen identifies a Plasmodium falciparum apicoplast inhibitor targeting MEP isoprenoid precursor biosynthesisPOMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsDiagnostic approach to the congenital muscular dystrophies.The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionEfficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP GeneAdeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.Conditional targeting of Ispd using paired Cas9 nickase and a single DNA template in mice.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Glycosyltransferase complexes in eukaryotes: long-known, prevalent but still unrecognized.Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.Morphological and functional aspects of progenitors perturbed in cortical malformations.Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye InvolvementISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesTransgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.A Five-Gene Signature Predicts Prognosis in Patients with Kidney Renal Clear Cell CarcinomaThe glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in prostate cancer.Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.De novo mutations in PLXND1 and REV3L cause Möbius syndromeZebrafish models flex their muscles to shed light on muscular dystrophies.Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalyISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Understanding human glycosylation disorders: biochemistry leads the charge.Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.Milder forms of muscular dystrophy associated with POMGNT2 mutations.
P2860
Q24294992-58B6A632-19CE-48C9-9219-4BD9BC18F154Q24302249-B1BBDED8-0A58-487F-B872-23655945D366Q24321692-0EDFEB1B-2604-406A-A78C-0B82F4FE6CB1Q26750873-9466D23E-4A82-4E62-A407-550A665CC366Q26827638-85B26EAC-2E05-49B5-8655-9BBEE3102309Q27014986-D86C20D3-3418-46A7-8333-3C3EEC5AA278Q27028125-6F194A0F-A4FE-4865-8671-992708830699Q28511766-6DD4D74C-348F-41D4-A93A-CF314A8695D0Q28592706-BA9AA4CA-E2D1-40C6-A644-001C7943D84BQ28593913-9C3D51EB-AE5E-4F62-8671-02D579331DBAQ29616593-1ED4C744-5F67-49B3-80B3-77CE20D0E3F0Q30043334-173FFE6B-9383-4B8D-9441-35043152EA32Q30590282-A702B5E6-D4D8-4CCF-9DF8-0E24345698E5Q30767612-F05BACCB-0650-428D-95ED-9071EA9DD56FQ32884479-BDFCF543-0515-4F63-B6DC-5F81AF4F99C9Q33633266-AB8992A1-C6F8-47D7-8689-F0B35B4A8B9AQ34013566-2FD8CBB7-5246-4485-9817-EA0C5D8367D9Q34076889-5A6EEF16-FA63-4EF9-BD83-7CBBA0198E8EQ34234134-4FD77587-3707-429C-B100-15AD94A308CAQ34498292-20C94447-1105-45E6-8E6A-59235DE79F3CQ34873693-712D088F-3EBD-4013-8A4C-69BCDC1FEEA0Q35062311-0939AD09-4D4B-4779-A5DB-D97043DA4AB1Q35077279-0CF5A7F9-0557-47F4-8F68-4104FA0B2413Q35216340-25466A54-5097-4877-8941-0BF66A2F84EBQ35787376-8E9F5B0B-D551-4564-9F04-E868AEBCF8F4Q36088396-83DC174B-AD35-4A46-A590-32DA63F3FFD9Q36155320-4795503C-98DC-44A6-95D0-5A08772353EBQ36204337-6626F995-218C-43E9-A28B-E811EBCD4970Q36214643-B52EF952-17AF-49DA-BD82-8B9E2C65F6FEQ36275198-982B4F61-C235-47EF-9827-8AD1BC27FF07Q36287506-02DA48E1-68E9-46CA-8009-A5BAEB574F69Q36359190-6183BB8F-EA65-42A3-AFAF-CCE408E174FCQ36439344-794CDD36-857C-42E9-A054-E27684271CE4Q36451494-FB820963-391D-43A1-BA62-350B6E708F80Q36581125-35177B13-4E8B-4486-B14C-4874477CBD80Q36666131-D370CD1A-F2CB-4F69-86FC-FA5A385A8BCFQ36666135-4563D15B-3922-451B-85CD-0FA8F2D06F55Q36720784-36751E2B-943E-476B-AB90-775ABEF9EAB0Q36731388-0CC8CA9E-D540-47C2-A455-3CF9AF93F2F9Q36738591-62A83343-7A2B-47FF-9CEB-A895A2A0DFCB
P2860
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@ast
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@en
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@en-gb
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@nl
type
label
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@ast
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@en
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@en-gb
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@nl
prefLabel
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@ast
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@en
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@en-gb
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Mutations in ISPD cause Walker ...... lycosylation of α-dystroglycan
@en
P2093
Bernard Grisart
Christa van den Elzen
Christine E de Die-Smulders
Christopher Bennett
David Chitayat
Derek L Stemple
Dirk J Lefeber
Ellen van Beusekom
Els A J Peeters
Erik-Jan Kamsteeg
P2860
P2888
P3181
P356
10.1038/NG.2253
P407
P50
P5530
P577
2012-05-01T00:00:00Z
P5875
P6179
1013048141