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
TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.
Sun W et al.
Npj Parkinson's Disease, 2025
ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance.
Carrillo F et al.
Neurobiology of 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
VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Savy C et al.
Cellular & Molecular Biology Letters, 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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
Kim JJ et al.
Nature Genetics, 2024
Characterization of the role of TMEM175 in an in vitro lysosomal H+ fluxes model.
Yang C et al.
The Febs Journal, 2023
Shared Genetics and Comorbid Genes of Amyotrophic Lateral Sclerosis and Parkinson's Disease.
Tian Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Shared genetic risk loci between Alzheimer's disease and related dementias, Parkinson's disease, and amyotrophic lateral sclerosis.
Wainberg M et al.
Alzheimer's Research & Therapy, 2023
From Lysosomal Storage Disorders to Parkinson's Disease - Challenges and Opportunities.
Mächtel R et al.
Journal of Molecular Biology, 2023
Transmembrane Protein 175, a Lysosomal Ion Channel Related to Parkinson's Disease.
Tang T et al.
Biomolecules, 2023
Advances in Drug Discovery Targeting Lysosomal Membrane Proteins.
Wang H et al.
Pharmaceuticals (basel, Switzerland), 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
Computational analysis of five neurodegenerative diseases reveals shared and specific genetic loci.
Maselli F et al.
Computational and Structural Biotechnology Journal, 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
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium.
Grover S et al.
Neurology, 2022
Parkinson's disease-risk protein TMEM175 is a proton-activated proton channel in lysosomes.
Hu M et al.
Cell, 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
Lysosomal dysfunction in neurodegeneration: emerging concepts and methods.
Udayar V et al.
Trends in Neurosciences, 2022
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource.
Iwaki H et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
A growth-factor-activated lysosomal K+ channel regulates Parkinson's pathology.
Wie J et al.
Nature, 2021
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder.
Mufti K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Mutation Analysis of DNAJC Family for Early-Onset Parkinson's Disease in a Chinese Cohort.
Li C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
Krohn L et al.
Annals of Neurology, 2020
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
Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts.
Iwaki H et al.
Neurology. Genetics, 2019
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.
Blauwendraat C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Phenome-wide association studies across large population cohorts support drug target validation.
Diogo D et al.
Nature Communications, 2018
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.
Chang D et al.
Nature Genetics, 2017
Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing.
Heo WI et al.
Bmc Medical Genetics, 2017
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014