Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.S276C
Back to variants list

HTRA2

NM_013247.5:p.S276C

Associated Papers

Unraveling the Dichotomy of Enigmatic Serine Protease HtrA2.

Chakraborty A et al.

Frontiers in Molecular Biosciences, 2022

Dissecting the role of interprotomer cooperativity in the activation of oligomeric high-temperature requirement A2 protein.

Toyama Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Loss of high-temperature requirement protein A2 protease activity induces mitonuclear imbalance via differential regulation of mitochondrial biogenesis in sarcopenia.

Zhou H et al.

Iubmb Life, 2020

Serine Protease HtrA2/Omi Deficiency Impairs Mitochondrial Homeostasis and Promotes Hepatic Fibrogenesis via Activation of Hepatic Stellate Cells.

Hur W et al.

Cells, 2019

Structural basis of inactivation of human counterpart of mouse motor neuron degeneration 2 mutant in serine protease HtrA2.

Wagh AR et al.

Bioscience Reports, 2018

Molecular motion regulates the activity of the Mitochondrial Serine Protease HtrA2.

Merski M et al.

Cell Death & Disease, 2017

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.

Fitzgerald JC et al.

Brain : a Journal of Neurology, 2017

Structural insights into the activation mechanisms of human HtrA serine proteases.

Zurawa-Janicka D et al.

Archives of Biochemistry and Biophysics, 2017

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

Mandel H et al.

Journal of Medical Genetics, 2016

Cloning and Transcriptional Activity of the Mouse Omi/HtrA2 Gene Promoter.

Liu D et al.

International Journal of Molecular Sciences, 2016

HtrA2/Omi influences the stability of LON protease 1 and prohibitin, proteins involved in mitochondrial homeostasis.

Goo HG et al.

Experimental Cell Research, 2014

Inactivation of Omi/HtrA2 protease leads to the deregulation of mitochondrial Mulan E3 ubiquitin ligase and increased mitophagy.

Cilenti L et al.

Biochimica Et Biophysica Acta, 2014

HTRA2 variations in Taiwanese Parkinson's disease.

Chen CM et al.

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

Neural-specific deletion of Htra2 causes cerebellar neurodegeneration and defective processing of mitochondrial OPA1.

Patterson VL et al.

Plos One, 2014

HtrA2/Omi deficiency causes damage and mutation of mitochondrial DNA.

Goo HG et al.

Biochimica Et Biophysica Acta, 2013

A novel role for the mitochondrial HTRA2/OMI protease in aging.

Kang S et al.

Autophagy, 2013

Altered enzymatic activity and allele frequency of OMI/HTRA2 in Alzheimer's disease.

Westerlund M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011

Omi/HtrA2 is a positive regulator of autophagy that facilitates the degradation of mutant proteins involved in neurodegenerative diseases.

Li B et al.

Cell Death and Differentiation, 2010

Association of Omi/HtrA2 with γ-secretase in mitochondria.

Behbahani H et al.

Neurochemistry International, 2010

HtrA2, taming the oncogenic activities of WT1.

Hartkamp J et al.

Cell Cycle (georgetown, Tex.), 2010

Cyclophilin D-dependent mitochondrial permeability transition is not involved in neurodegeneration in mnd2 mutant mice.

Ideguchi K et al.

Biochemical and Biophysical Research Communications, 2010

The serine protease HtrA2/Omi cleaves Parkin and irreversibly inactivates its E3 ubiquitin ligase activity.

Park HM et al.

Biochemical and Biophysical Research Communications, 2009

Novel mitochondrial substrates of omi indicate a new regulatory role in neurodegenerative disorders.

Johnson F et al.

Plos One, 2009

Loss-of-function analysis suggests that Omi/HtrA2 is not an essential component of the PINK1/PARKIN pathway in vivo.

Yun J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Simón-Sánchez J et al.

Human Molecular Genetics, 2008

The mitochondrial serine protease HtrA2/Omi: an overview.

Vande Walle L et al.

Cell Death and Differentiation, 2008

HtrA2 regulates beta-amyloid precursor protein (APP) metabolism through endoplasmic reticulum-associated degradation.

Huttunen HJ et al.

The Journal of Biological Chemistry, 2007

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.

Strauss KM et al.

Human Molecular Genetics, 2005

The C-terminal tail of presenilin regulates Omi/HtrA2 protease activity.

Gupta S et al.

The Journal of Biological Chemistry, 2004

Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice.

Jones JM et al.

Nature, 2003

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."