Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
about
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanCongenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyMutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanMutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanThe potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyNeurological aspects of human glycosylation disordersAutosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationCardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionTransgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscleThe impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutationsA severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.High throughput screening for compounds that alter muscle cell glycosylation identifies new role for N-glycans in regulating sarcolemmal protein abundance and laminin bindingNeurology of inherited glycosylation disorders.Basement membranes: cell scaffoldings and signaling platforms.Mannose metabolism: more than meets the eye.Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathiesGenetic defects in dolichol metabolism.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.Analysis of carbohydrates and glycoconjugates by matrix-assisted laser desorption/ionization mass spectrometry: an update for 2009-2010.An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients.ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesAn analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Effect of Temperature Downshift on the Transcriptomic Responses of Chinese Hamster Ovary Cells Using Recombinant Human Tissue Plasminogen Activator Production Culture.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseBoth PIGA and PIGL mutations cause GPI-a deficient isolates in the Tk6 cell line.Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?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.From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.Congenital protein hypoglycosylation diseases.A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
P2860
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P2860
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@ast
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@en
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@nl
type
label
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@ast
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@en
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@nl
prefLabel
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@ast
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@en
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@nl
P2093
P2860
P50
P3181
P1476
Deficiency of Dol-P-Man syntha ...... with the dystroglycanopathies
@en
P2093
Athanasios Evangeliou
Christa van den Elzen
Daniel Hess
Dirk J Lefeber
Dominique Klein
Eva Morava
Frank W Preijers
Jan Hofsteenge
Jef Yildiz
Johannes Schönberger
P2860
P3181
P356
10.1016/J.AJHG.2009.06.006
P407
P577
2009-07-01T00:00:00Z