Mutations in GET4 disrupt the transmembrane domain recognition complex pathway-Reference-Cited by-同舟云学术

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

Published:2020-06-03 Issue:5 Volume:43 Page:1037-1045
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Tambe Mitali A.¹,Ng Bobby G.¹,Shimada Shino²,Wolfe Lynne A.²,Adams David R.²³,Gahl William A.²³,Bamshad Michael J.⁴⁵,Nickerson Deborah A.⁵,Malicdan May C. V.²³,Freeze Hudson H.¹^ORCID,

Affiliation:

1. Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute La Jolla California USA

2. Undiagnosed Diseases Program National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH) Bethesda Maryland USA

3. Section of Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH Bethesda Maryland USA

4. Department of Pediatrics University of Washington Seattle Seattle Washington USA

5. Department of Genome Sciences University of Washington Seattle, University of Washington Centre for Mendelian Genomics Seattle Washington USA

Funder

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

National Institute of Diabetes and Digestive and Kidney Diseases

NIH Office of the Director

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12249

Reference23 articles.

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3. Cytosolic Quality Control of Mislocalized Proteins Requires RNF126 Recruitment to Bag6

4. Structure of a BAG6 (Bcl-2-associated Athanogene 6)-Ubl4a (Ubiquitin-like Protein 4a) Complex Reveals a Novel Binding Interface That Functions in Tail-anchored Protein Biogenesis

5. Bag6 complex contains a minimal tail-anchor–targeting module and a mock BAG domain

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1. Classification and functional characterization of regulators of intracellular STING trafficking identified by genome-wide optical pooled screening;2024-04-09

2. Genome-wide CRISPR/Cas9 screen shows that loss of GET4 increases mitochondria-endoplasmic reticulum contact sites and is neuroprotective;Cell Death & Disease;2024-03-11

3. Proteotoxic stresses stimulate dissociation of UBL4A from the tail-anchored protein recognition complex;Biochemical Journal;2023-10-11

4. Genome-wide CRISPR/Cas9 screen shows that loss of GET4 increases mitochondria-endoplasmic reticulum contact sites and is neuroprotective.;2023-07-26

5. CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking;Human Molecular Genetics;2022-03-09