Varaico: Literature-Extracted Genetic Variants

Gene:HSPA9
Variant:p.K159I
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HSPA9

NM_004134.7:p.K159I

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

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

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

Mortalin mutations are not a frequent cause of early-onset Parkinson disease.

Freimann K et al.

Neurobiology of Aging, 2013

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

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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."