Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.P143A
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HTRA2

NM_013247.5:p.P143A

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

Cytosolic retention of HtrA2 during mitochondrial protein import stress triggers the DELE1-HRI pathway.

Bi PY et al.

Communications Biology, 2024

Post-translational modification and mitochondrial function in Parkinson's disease.

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.

Yan YP et al.

Cns Neuroscience & Therapeutics, 2020

Generation of a human iPSC line CIBi007-A from a patient with young-onset Parkinson's disease carrying variants in PRKN and HTRA2.

Yan Y et al.

Stem Cell Research, 2020

Mitochondrial HTRA2 Plays a Positive, Protective Role in Dictyostelium discoideum but Is Cytotoxic When Overexpressed.

Chen S et al.

Genes, 2018

HTRA2 variations in Taiwanese Parkinson's disease.

Chen CM et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2014

Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria.

Lin CH et al.

Human Genetics, 2011

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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."