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1.
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Hum Mol Genet;
32(5): 732-744, 2023 02 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36067040
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33964207
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37598857
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32910914
5.
Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.
J Cell Sci;
134(24)2021 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-34817055
6.
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.
Genet Med;
23(7): 1305-1314, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33731878
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28724630
8.
O-Linked ß-N-acetylglucosamine (O-GlcNAc) Acts as a Glucose Sensor to Epigenetically Regulate the Insulin Gene in Pancreatic Beta Cells.
J Biol Chem;
291(5): 2107-18, 2016 Jan 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-26598517
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27241848
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25505245
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24026681
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23733939
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23733943
14.
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.
Glycobiology;
25(6): 669-82, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25609749
15.
Sugar-free frosting, a homolog of SAD kinase, drives neural-specific glycan expression in the Drosophila embryo.
Development;
138(3): 553-63, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21205799
16.
Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders.
iScience;
27(4): 109293, 2024 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38495824
17.
"Casting" light on the role of glycosylation during embryonic development: insights from zebrafish.
Glycoconj J;
30(1): 33-40, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22638861
18.
Selective exo-enzymatic labeling of N-glycans on the surface of living cells by recombinant ST6Gal I.
Angew Chem Int Ed Engl;
52(49): 13012-5, 2013 Dec 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-24129959
19.
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.
Dis Model Mech;
16(4)2023 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37083955
20.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Cell Rep Med;
4(6): 101056, 2023 06 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-37257447