Detalhe da pesquisa
1.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet
; 99(5): 1181-1189, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773428
2.
Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle.
Proc Natl Acad Sci U S A
; 113(39): 10992-7, 2016 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625424
3.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 92(3): 354-65, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453667
4.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768512
5.
Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion.
Proc Natl Acad Sci U S A
; 110(52): 21024-9, 2013 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24297939
6.
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Hum Mutat
; 36(12): 1159-63, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26310427
7.
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.
J Biol Chem
; 289(41): 28138-48, 2014 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138275
8.
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
N Engl J Med
; 364(10): 939-46, 2011 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21388311
9.
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain
; 136(Pt 1): 269-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23288328
10.
Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2.
Glycobiology
; 23(3): 295-302, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125099
11.
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Mol Genet Metab
; 110(3): 345-351, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23856421
12.
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.
Biomolecules
; 13(8)2023 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37627292
13.
Cell surface glycan engineering reveals that matriglycan alone can recapitulate dystroglycan binding and function.
Nat Commun
; 13(1): 3617, 2022 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35750689
14.
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast.
J Neurosci
; 28(42): 10567-75, 2008 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18923033
15.
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
Glycobiology
; 18(8): 615-25, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18490429
16.
Uniparental disomy unveils a novel recessive mutation in POMT2.
Neuromuscul Disord
; 28(7): 592-596, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29759639
17.
O-mannosyl glycans: from yeast to novel associations with human disease.
Curr Opin Struct Biol
; 13(5): 621-30, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14568618
18.
Activin A more prominently regulates muscle mass in primates than does GDF8.
Nat Commun
; 8: 15153, 2017 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28452368
19.
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.
Elife
; 52016 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27130732
20.
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Neuromuscul Disord
; 15(4): 271-5, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15792865