Detalhe da pesquisa
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045343
2.
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1151-1160, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979636
3.
The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi.
J Biol Chem
; 296: 100789, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015330
4.
Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn2.
FASEB J
; 33(2): 2669-2679, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30307768
5.
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.
Hum Mol Genet
; 25(8): 1489-500, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008884
6.
Investigating the function of Gdt1p in yeast Golgi glycosylation.
Biochim Biophys Acta Gen Subj
; 1862(3): 394-402, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29108953
7.
Manganese-induced turnover of TMEM165.
Biochem J
; 474(9): 1481-1493, 2017 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28270545
8.
Evidence for splice transcript variants of TMEM165, a gene involved in CDG.
Biochim Biophys Acta Gen Subj
; 1861(4): 737-748, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28088503
9.
Golgi post-translational modifications and associated diseases.
J Inherit Metab Dis
; 38(4): 741-51, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25967285
10.
Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity.
Biochimie
; 165: 123-130, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31351090
11.
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.
Tissue Cell
; 49(2 Pt A): 150-156, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27401145
12.
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.
J Clin Endocrinol Metab
; 102(4): 1375-1386, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28323990