Detalhe da pesquisa
1.
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
2.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711075
3.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
4.
Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med
; 22(5): 857-866, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949312
5.
Functional regions of the peroxin Pex19 necessary for peroxisome biogenesis.
J Biol Chem
; 292(27): 11547-11560, 2017 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28526747
6.
Salinicola tamaricis sp. nov., a heavy-metal-tolerant, endophytic bacterium isolated from the halophyte Tamarix chinensis Lour.
Int J Syst Evol Microbiol
; 67(6): 1813-1819, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28604335
7.
Larsenimonas suaedae sp. nov., a moderately halophilic, endophytic bacterium isolated from the halophyte Suaeda salsa.
Int J Syst Evol Microbiol
; 66(8): 2952-2958, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27129697
8.
Corrigendum: Larsenimonas suaedae sp. nov., a moderately halophilic, endophytic bacterium isolated from the euhalophyte Suaeda salsa.
Int J Syst Evol Microbiol
; 70(5): 3582, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32471529
9.
The Swedish COG6-CDG experience and a comprehensive literature review.
JIMD Rep
; 64(1): 79-89, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636598
10.
[Analysis of the risk factors related to prognosis of severe intra-abdominal infection in surgical intensive care unit].
Zhongguo Wei Zhong Bing Ji Jiu Yi Xue
; 24(3): 162-5, 2012 Mar.
Artigo
em Zh
| MEDLINE | ID: mdl-22401161
11.
COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells.
Front Cell Dev Biol
; 10: 979096, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36393834
12.
Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions.
J Cell Biol
; 221(10)2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053214
13.
A Dominant Heterozygous Mutation in COG4 Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling.
Front Cell Dev Biol
; 9: 720688, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34595172
14.
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.
JCI Insight
; 6(24)2021 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34784297
15.
Cloning and characterization of an rRNA methyltransferase from Sorangium cellulosum.
Biochem Biophys Res Commun
; 370(1): 140-4, 2008 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-18355448
16.
Discovery of the autonomously replicating plasmid pMF1 from Myxococcus fulvus and development of a gene cloning system in Myxococcus xanthus.
Appl Environ Microbiol
; 74(7): 1980-7, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18245244
17.
Evolutionary diversity of ketoacyl synthases in cellulolytic myxobacterium Sorangium.
Syst Appl Microbiol
; 30(3): 189-96, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16899349
18.
TRIM37, a novel E3 ligase for PEX5-mediated peroxisomal matrix protein import.
J Cell Biol
; 216(9): 2843-2858, 2017 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724525
19.
Distinct requirements for intra-ER sorting and budding of peroxisomal membrane proteins from the ER.
J Cell Biol
; 212(3): 335-48, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833788
20.
Integrated emergency department and general intensive care unit management on health outcomes.
Chin Med J (Engl)
; 134(21): 2553-2555, 2021 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653078