Varaico: Literature-Extracted Genetic Variants

Gene:HSPA9
Variant:p.P509S
Back to variants list

HSPA9

NM_004134.7:p.P509S

Associated Papers

Autophagy inhibition rescues structural and functional defects caused by the loss of mitochondrial chaperone Hsc70-5 in Drosophila.

Zhu JY et al.

Autophagy, 2021

Mitochondrial HSP70 Chaperone System-The Influence of Post-Translational Modifications and Involvement in Human Diseases.

Havalová H et al.

International Journal of Molecular Sciences, 2021

GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.

Dong YN et al.

Human Molecular Genetics, 2019

Lack of association of mortalin (HSPA9) and other mitochondria-related genes with risk of Parkinson's and Alzheimer's diseases.

Chung SJ et al.

Neurobiology of Aging, 2017

Functional significance of point mutations in stress chaperone mortalin and their relevance to Parkinson disease.

Wadhwa R et al.

The Journal of Biological Chemistry, 2015

Crystal structure of the nucleotide-binding domain of mortalin, the mitochondrial Hsp70 chaperone.

Amick J et al.

Protein Science : a Publication of the Protein Society, 2014

Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1.

Burbulla LF et al.

Cell Death & Disease, 2014

Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.

Burbulla LF et al.

Human Molecular Genetics, 2010

Mutational screening of the mortalin gene (HSPA9) in Parkinson's disease.

De Mena L et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2009

Iron-Sulfur Protein Assembly in Human Cells.

Saha PP et al.

Reviews of Physiology, Biochemistry and Pharmacology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."