Detalhe da pesquisa
1.
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
Clin Chem
; 65(10): 1295-1306, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31375477
2.
Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.
Hum Mol Genet
; 24(8): 2241-6, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25552652
3.
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
4.
Missense mutations in ß-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Hum Mol Genet
; 22(9): 1746-54, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23359570
5.
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
PLoS Genet
; 7(12): e1002427, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22242004
6.
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Ann Neurol
; 72(4): 550-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23109149
7.
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.
Eur J Hum Genet
; 25(11): 1195-1201, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28853722
8.
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Genome Med
; 9(1): 118, 2017 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29273094
9.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nat Commun
; 7: 11491, 2016 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27173435
10.
Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands.
ACS Chem Biol
; 10(10): 2353-63, 2015 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258433
11.
Absence of α- and ß-dystroglycan is associated with Walker-Warburg syndrome.
Neurology
; 84(21): 2177-82, 2015 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25934851
12.
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
Chem Biol
; 22(12): 1643-52, 2015 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26687144
13.
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
Science
; 340(6131): 479-83, 2013 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23519211
14.
Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
Genome Biol
; 13(2): R12, 2012 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22356826
15.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Nat Genet
; 44(5): 581-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522421