Varaico: Literature-Extracted Genetic Variants

Gene:TMEM175
Variant:p.Q65P
Back to variants list

TMEM175

NM_032326.4:p.Q65P

Associated Papers

TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.

Sun W et al.

Npj Parkinson's Disease, 2025

Unraveling pH Regulation of TMEM175, an Endolysosomal Cation Channel With a Role in Parkinson's Disease.

Schulze T et al.

Journal of Cellular Physiology, 2025

Lysosomal dysfunction in α-synuclein pathology: molecular mechanisms and therapeutic strategies.

Dai L et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles.

Kang H et al.

Experimental & Molecular Medicine, 2024

The Impact of 90 Parkinson's Disease-Risk Single Nucleotide Polymorphisms on Urinary Bis(monoacylglycerol)phosphate Levels in the Prodromal and PD Cohorts.

Fang S et al.

International Journal of Molecular Sciences, 2024

Transmembrane Protein 175, a Lysosomal Ion Channel Related to Parkinson's Disease.

Tang T et al.

Biomolecules, 2023

Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson's Disease in Italian Patients.

Palomba NP et al.

Molecular Neurobiology, 2023

Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 2023

Genetic Architecture of Parkinson's Disease.

Shadrina MI et al.

Biochemistry. Biokhimiia, 2023

Genetics and Pathogenesis of Parkinson's Syndrome.

Ye H et al.

Annual Review of Pathology, 2023

Mechanism of 4-aminopyridine inhibition of the lysosomal channel TMEM175.

Oh S et al.

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

Differential ion dehydration energetics explains selectivity in the non-canonical lysosomal K+ channel TMEM175.

Oh S et al.

Elife, 2022

pH regulates potassium conductance and drives a constitutive proton current in human TMEM175.

Zheng W et al.

Science Advances, 2022

Rodent models based on endolysosomal genes involved in Parkinson's disease.

Sanchiz-Calvo M et al.

Current Opinion in Neurobiology, 2022

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.

Rudakou U et al.

Brain : a Journal of Neurology, 2021

A growth-factor-activated lysosomal K+ channel regulates Parkinson's pathology.

Wie J et al.

Nature, 2021

Allele-specific expression of Parkinson's disease susceptibility genes in human brain.

Langmyhr M et al.

Scientific Reports, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.

Krohn L et al.

Annals of Neurology, 2020

Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease.

Jinn S et al.

Human Molecular Genetics, 2019

Phenome-wide association studies across large population cohorts support drug target validation.

Diogo D et al.

Nature Communications, 2018

30327483 (PubMed )
Supplement: 41467_2018_6540_MOESM1_ESM.pdf
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."