Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.A141S
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HTRA2

NM_013247.5:p.A141S

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

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

Bi PY et al.

Communications Biology, 2024

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S5__MITNGS_S5_

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

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

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Segur-Bailach E et al.

Journal of Clinical Medicine, 2022

35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S2.pdf

Unraveling the Dichotomy of Enigmatic Serine Protease HtrA2.

Chakraborty A et al.

Frontiers in Molecular Biosciences, 2022

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_060_N

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.

Saini P et al.

Neurobiology of Aging, 2021

Understanding the Multiple Role of Mitochondria in Parkinson's Disease and Related Disorders: Lesson From Genetics and Protein-Interaction Network.

Nicoletti V et al.

Frontiers in Cell and Developmental Biology, 2021

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

Yan YP et al.

Cns Neuroscience & Therapeutics, 2020

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX et al.

Brain : a Journal of Neurology, 2019

31324919 (PubMed )
Supplement: awz191_supplementary_data.pdf

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

Chen S et al.

Genes, 2018

The genetic architecture of mitochondrial dysfunction in Parkinson's disease.

Larsen SB et al.

Cell and Tissue Research, 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

Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.

He YC et al.

Parkinson's Disease, 2017

Mitochondrial dysfunction in Parkinson's disease.

Bose A et al.

Journal of Neurochemistry, 2016

Exome sequencing in dementia with Lewy bodies.

Keogh MJ et al.

Translational Psychiatry, 2016

26836416 (PubMed )
Supplement: tp2015220x1.docx

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2015

Mutations in HTRA2 are not a common cause of familial classic ET.

Hopfner F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

HTRA2 variations in Taiwanese Parkinson's disease.

Chen CM et al.

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

Molecular pathogenesis of Parkinson's disease: update.

Saiki S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

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

Fitzgerald JC et al.

Cell Death and Differentiation, 2012

Autosomal dominant parkinsonism: its etiologies and differential diagnoses.

Hattori N

Parkinsonism & Related Disorders, 2012

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

What genetics tells us about the causes and mechanisms of Parkinson's disease.

Corti O et al.

Physiological Reviews, 2011

Genetic variations of Omi/HTRA2 in Chinese patients with Parkinson's disease.

Wang CY et al.

Brain Research, 2011

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

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

Behbahani H et al.

Neurochemistry International, 2010

Cell death pathways in Parkinson's disease: role of mitochondria.

Yao Z et al.

Antioxidants & Redox Signaling, 2009

Drosophila HtrA2 is dispensable for apoptosis but acts downstream of PINK1 independently from Parkin.

Tain LS et al.

Cell Death and Differentiation, 2009

Impaired mitochondrial dynamics and function in the pathogenesis of Parkinson's disease.

Büeler H

Experimental Neurology, 2009

Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases.

Migliore L et al.

Mutation Research, 2009

Genetic susceptibility in Parkinson's disease.

Bras JM et al.

Biochimica Et Biophysica Acta, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

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

Genetic variation of Omi/HtrA2 and Parkinson's disease.

Ross OA et al.

Parkinsonism & Related Disorders, 2008

Update on the pathogenesis of Parkinson's disease.

Schulz JB

Journal of Neurology, 2008

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

Simón-Sánchez J et al.

Human Molecular Genetics, 2008

Review: Familial Parkinson's disease--genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease.

Schiesling C et al.

Neuropathology and Applied Neurobiology, 2008

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).

Mills RD et al.

Journal of Neurochemistry, 2008

Parkinson's disease: a genetic perspective.

Belin AC et al.

The Febs Journal, 2008

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