Varaico: Literature-Extracted Genetic Variants

Gene:VPS54
Variant:p.L967Q
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VPS54

NM_016516.3:p.L967Q

Associated Papers

ELAPOR1 is a copper-dependent tethering factor driving proacrosomal vesicle fusion during acrosome biogenesis.

Shao T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

GARP dysfunction results in COPI displacement, depletion of Golgi v-SNAREs and calcium homeostasis proteins.

Khakurel A et al.

Frontiers in Cell and Developmental Biology, 2022

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

D'Souza Z et al.

Cells, 2021

Functions and therapeutic potential of protein phosphatase 1: Insights from mouse genetics.

Ferreira M et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2019

30056088 (PubMed )
Supplement: mmc1.docx

AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.

Guidi LG et al.

Scientific Reports, 2018

The GARP Complex Is Involved in Intracellular Cholesterol Transport via Targeting NPC2 to Lysosomes.

Wei J et al.

Cell Reports, 2017

Pathoproteomics of testicular tissue deficient in the GARP component VPS54: the wobbler mouse model of globozoospermia.

Jockusch H et al.

Proteomics, 2014

The ESCRT-deubiquitinating enzyme USP8 in the cervical spinal cord of wild-type and Vps54-recessive (wobbler) mutant mice.

Paiardi C et al.

Histochemistry and Cell Biology, 2014

Loss of vps54 function leads to vesicle traffic impairment, protein mis-sorting and embryonic lethality.

Karlsson P et al.

International Journal of Molecular Sciences, 2013

VPS54 genetic analysis in ALS Italian cohort.

Corrado L et al.

European Journal of Neurology, 2011

Amyotrophic lateral sclerosis pathogenesis: a journey through the secretory pathway.

Nassif M et al.

Antioxidants & Redox Signaling, 2010

Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.

Meisler MH et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2008

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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."