Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II
about
TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transportTwo-pore channels at the intersection of endolysosomal membrane trafficTMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationMolecular evolution of a novel family of putative calcium transporters.Cohen syndrome is associated with major glycosylation defects.Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.Suppressor mutations in the Glutamine Dumper1 protein dissociate disturbance in amino acid transport from other characteristics of the Gdu1D phenotype.Human diseases associated with form and function of the Golgi complex.Decreasing the ratio of matriptase/HAI‑1 by downregulation of matriptase as a potential adjuvant therapy in ovarian cancer.TMEM165 Deficiency: Postnatal Changes in Glycosylation.Acidic and uncharged polar residues in the consensus motifs of the yeast Ca2+ transporter Gdt1p are required for calcium transport.Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.Plants contain small families of UPF0016 proteins including the PHOTOSYNTHESIS AFFECTED MUTANT71 transporter.CDG Therapies: From Bench to Bedside.CaGdt1 plays a compensatory role for the calcium pump CaPmr1 in the regulation of calcium signaling and cell wall integrity signaling in Candida albicans.
P2860
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P2860
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II
description
2013 nî lūn-bûn
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2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2013 թվականի հուլիսին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Impact of disease-causing muta ...... ied protein involved in CDG-II
@ast
Impact of disease-causing muta ...... ied protein involved in CDG-II
@en
Impact of disease-causing muta ...... ied protein involved in CDG-II
@en-gb
Impact of disease-causing muta ...... ied protein involved in CDG-II
@nl
type
label
Impact of disease-causing muta ...... ied protein involved in CDG-II
@ast
Impact of disease-causing muta ...... ied protein involved in CDG-II
@en
Impact of disease-causing muta ...... ied protein involved in CDG-II
@en-gb
Impact of disease-causing muta ...... ied protein involved in CDG-II
@nl
prefLabel
Impact of disease-causing muta ...... ied protein involved in CDG-II
@ast
Impact of disease-causing muta ...... ied protein involved in CDG-II
@en
Impact of disease-causing muta ...... ied protein involved in CDG-II
@en-gb
Impact of disease-causing muta ...... ied protein involved in CDG-II
@nl
P2093
P3181
P356
P1476
Impact of disease-causing muta ...... ied protein involved in CDG-II
@en
P2093
Cindy Borrego
Claire Rosnoblet
Didier Demaegd
Dominique Legrand
Geoffroy de Bettignies
Gert Matthijs
Hêla Hacine-Gherbi
Riet Bammens
Sandrine Duvet
P304
P3181
P356
10.1093/HMG/DDT146
P407
P577
2013-07-15T00:00:00Z