Varaico: Literature-Extracted Genetic Variants

Gene:AMFR
Variant:p.C356G
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AMFR

NM_001144.6:p.C356G

Associated Papers

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.

Deng R et al.

Acta Neuropathologica, 2023

Ubiquitination regulates ER-phagy and remodelling of endoplasmic reticulum.

González A et al.

Nature, 2023

Gp78 involvement in cellular proliferation: Can act as a promising modulator for cell cycle regulatory proteins?

Joshi V et al.

Journal of Cellular Physiology, 2018

Ring finger protein 145 (RNF145) is a ubiquitin ligase for sterol-induced degradation of HMG-CoA reductase.

Jiang LY et al.

The Journal of Biological Chemistry, 2018

AAA ATPase p97/valosin-containing protein interacts with gp78, a ubiquitin ligase for endoplasmic reticulum-associated degradation.

Zhong X et al.

The Journal of Biological Chemistry, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."