Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet;
108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34653363
2.
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Int J Mol Sci;
24(9)2023 May 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37175952
3.
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
Glycobiology;
32(3): 239-250, 2022 03 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34939087
4.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis;
45(4): 769-781, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35279850
5.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Hepatology;
72(6): 1968-1986, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32145091
6.
C. elegans DPY-19 is a C-mannosyltransferase glycosylating thrombospondin repeats.
Mol Cell;
50(2): 295-302, 2013 Apr 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23562325
7.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Hum Mol Genet;
27(17): 3029-3045, 2018 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29878199
8.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Am J Hum Genet;
98(2): 322-30, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26833330
9.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet;
98(2): 310-21, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26833332
10.
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
11.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
J Inherit Metab Dis;
42(3): 553-564, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30746764
12.
TNF-α-induced protein 3 (TNFAIP3)/A20 acts as a master switch in TNF-α blockade-driven IL-17A expression.
J Allergy Clin Immunol;
142(2): 517-529, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29248493
13.
Arabidopsis ROCK1 transports UDP-GlcNAc/UDP-GalNAc and regulates ER protein quality control and cytokinin activity.
Proc Natl Acad Sci U S A;
112(1): 291-6, 2015 Jan 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25535363
14.
Cryptococcus neoformans UGT1 encodes a UDP-Galactose/UDP-GalNAc transporter.
Glycobiology;
27(1): 87-98, 2017 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27496760
15.
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
16.
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
J Med Genet;
50(11): 733-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24031089
17.
Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of notch.
J Biol Chem;
287(4): 2739-48, 2012 Jan 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22117070
18.
LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE.
Glycobiology;
23(3): 303-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23135544
19.
Characterisation of CMP-sialic acid transporter substrate recognition.
Chembiochem;
14(15): 1936-42, 2013 Oct 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24014346
20.
A syndrome with congenital neutropenia and mutations in G6PC3.
N Engl J Med;
360(1): 32-43, 2009 Jan 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19118303