Detalhe da pesquisa
1.
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
Hum Mol Genet
; 32(24): 3323-3341, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37676252
2.
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Hum Mol Genet
; 32(5): 732-744, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067040
3.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Am J Hum Genet
; 108(6): 1040-1052, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964207
4.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
5.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Am J Hum Genet
; 107(4): 753-762, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910914
6.
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.
Genet Med
; 23(7): 1305-1314, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33731878
7.
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Am J Med Genet A
; 185(10): 2863-2872, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050707
8.
Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.
Mol Genet Metab
; 129(2): 73-79, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645300
9.
Defective mucin-type glycosylation on α-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.
J Biol Chem
; 293(37): 14534-14544, 2018 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30049793
10.
Altered Met receptor phosphorylation and LRP1-mediated uptake in cells lacking carbohydrate-dependent lysosomal targeting.
J Biol Chem
; 292(36): 15094-15104, 2017 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724630
11.
Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.
Bioessays
; 38(12): 1255-1265, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667795
12.
Selective Exo-Enzymatic Labeling Detects Increased Cell Surface Sialoglycoprotein Expression upon Megakaryocytic Differentiation.
J Biol Chem
; 291(8): 3982-9, 2016 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26733198
13.
Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αß and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.
Biochim Biophys Acta
; 1860(9): 1845-53, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27241848
14.
Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.
Mol Ther
; 24(2): 206-216, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26447927
15.
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
J Biol Chem
; 290(5): 3045-56, 2015 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25505245
16.
One-Step Selective Exoenzymatic Labeling (SEEL) Strategy for the Biotinylation and Identification of Glycoproteins of Living Cells.
J Am Chem Soc
; 138(36): 11575-11582, 2016 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27541995
17.
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Hum Mol Genet
; 23(2): 418-33, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24026681
18.
A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.
Mol Genet Metab
; 117(2): 114-9, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26454691
19.
The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.
Proc Natl Acad Sci U S A
; 110(25): 10246-51, 2013 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23733939
20.
Abnormal accumulation and recycling of glycoproteins visualized in Niemann-Pick type C cells using the chemical reporter strategy.
Proc Natl Acad Sci U S A
; 110(25): 10207-12, 2013 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23733943