Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.L444P
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TH

NM_000360.4:p.L444P

Associated Papers

Inhibition or genetic reduction of ASAH1/acid ceramidase restore α-synuclein clearance in mutant GBA1 dopamine neurons from Parkinson's patients.

Kumar M et al.

Human Molecular Genetics, 2025

41224733 (PubMed )
Supplement: supplemental_figure_legends_ddaf166.docx

GBA-AAV mitigates sleep disruptions and motor deficits in mice with REM sleep behavior disorder.

Chen Y et al.

Npj Parkinson's Disease, 2024

Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.

Kuo SH et al.

Science Advances, 2022

Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson's Disease.

Usenko T et al.

Genes, 2021

Modelling Parkinson's Disease: iPSCs towards Better Understanding of Human Pathology.

Avazzadeh S et al.

Brain Sciences, 2021

Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells.

Tran J et al.

Npj Parkinson's Disease, 2020

Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.

Mus L et al.

Neurobiology of Disease, 2019

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.

Yun SP et al.

Molecular Neurodegeneration, 2018

29310663 (PubMed )
Supplement: 13024_2017_233_MOESM8_ESM.pdf

Mitochondria: A Common Target for Genetic Mutations and Environmental Toxicants in Parkinson's Disease.

Helley MP et al.

Frontiers in Genetics, 2017

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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."