Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.W186*
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RAB39B

NM_171998.4:p.W186*

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

Absence of Rab39b-induced macroautophagy impairment increases neurotoxic α-synuclein and causes degeneration of substantia nigra dopaminergic neurons in mouse model of X-linked Parkinson's disease.

Chiu CC et al.

Life Sciences, 2025

Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism.

Mackels L et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024

RelCurator: a text mining-based curation system for extracting gene-phenotype relationships specific to neurodegenerative disorders.

Lee H et al.

Genes & Genomics, 2023

Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein.

Chiu CC et al.

Molecular Neurobiology, 2023

Multimodal imaging of a patient with RAB39B mutation.

Mackels L et al.

Neuroradiology, 2022

RAB39B's role in membrane traffic, autophagy, and associated neuropathology.

Tang BL

Journal of Cellular Physiology, 2021

Endosomal sorting pathways in the pathogenesis of Parkinson's disease.

Cunningham LA et al.

Progress in Brain Research, 2020

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A

Current Neurology and Neuroscience Reports, 2017

Rabs, Membrane Dynamics, and Parkinson's Disease.

Tang BL

Journal of Cellular Physiology, 2017

Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.

Lin HH et al.

Neurobiology of Aging, 2017

A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.

Shi CH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

Lesage S et al.

Neurology. Genetics, 2015

A de novo paradigm for mental retardation.

Vissers LE et al.

Nature Genetics, 2010

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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."