Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.S306A
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HTRA2

NM_013247.5:p.S306A

Associated Papers

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

Bi PY et al.

Communications Biology, 2024

Protease-independent control of parthanatos by HtrA2/Omi.

Weiß J et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Inter-subunit crosstalk via PDZ synergistically governs allosteric activation of proapoptotic HtrA2.

Parui AL et al.

Structure (london, England : 1993), 2022

Structural basis of protein substrate processing by human mitochondrial high-temperature requirement A2 protease.

Toyama Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Role of conserved regulatory loop residues in allosteric propagation of serine protease HtrA2.

Parui AL et al.

Biochemical and Biophysical Research Communications, 2022

Mechanism-based traps enable protease and hydrolase substrate discovery.

Tang S et al.

Nature, 2022

Unraveling the Dichotomy of Enigmatic Serine Protease HtrA2.

Chakraborty A et al.

Frontiers in Molecular Biosciences, 2022

Cellular substrates and pro-apoptotic function of the human HtrA4 protease.

Wenta T et al.

Journal of Proteomics, 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

Distinct 3D Architecture and Dynamics of the Human HtrA2(Omi) Protease and Its Mutated Variants.

Gieldon A et al.

Plos One, 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

p53-mediated activation of the mitochondrial protease HtrA2/Omi prevents cell invasion.

Yamauchi S et al.

The Journal of Cell Biology, 2014

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

Goo HG et al.

Biochimica Et Biophysica Acta, 2013

Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function.

Fitzgerald JC et al.

Cell Death and Differentiation, 2012

Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1.

Kieper N et al.

Experimental Cell Research, 2010

WT1 the oncogene: a tale of death and HtrA.

Essafi A et al.

Molecular Cell, 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

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

The mitochondrial serine protease HtrA2/Omi: an overview.

Vande Walle L et al.

Cell Death and Differentiation, 2008

The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.

Plun-Favreau H et al.

Nature Cell Biology, 2007

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

Gupta S et al.

The Journal of Biological Chemistry, 2004

Structural insights into the pro-apoptotic function of mitochondrial serine protease HtrA2/Omi.

Li W et al.

Nature Structural Biology, 2002

The serine protease Omi/HtrA2 regulates apoptosis by binding XIAP through a reaper-like motif.

Martins LM et al.

The Journal of Biological Chemistry, 2002

Characterization of a novel human serine protease that has extensive homology to bacterial heat shock endoprotease HtrA and is regulated by kidney ischemia.

Faccio L et al.

The Journal of Biological Chemistry, 2000

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