Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.T168K
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RAB39B

NM_171998.4:p.T168K

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

Soma-localized Rab39 inhibits synaptic autophagy by controlling trafficking of Atg9 vesicles.

Kilic A et al.

The Embo Journal, 2025

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

Expression of human Ras-related protein Rab39B variant T168K in Caenorhabditis elegans leads to motor dysfunction and dopaminergic neuron degeneration.

Zeng Y et al.

Heliyon, 2024

Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease.

Yuan Y et al.

Frontiers in Neurology, 2024

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

Mackels L et al.

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

Novel RAB39B variant associated intellectual disability and levodopa-responsive young-onset parkinsonism.

Abusrair A et al.

Parkinsonism & Related Disorders, 2023

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

Loss of RAB39B does not alter MPTP-induced Parkinson's disease-like phenotypes in mice.

Wang Z et al.

Frontiers in Aging Neuroscience, 2023

The Role of Rab Proteins in Parkinson's Disease Synaptopathy.

Bellucci A et al.

Biomedicines, 2022

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.

Mignogna ML et al.

Human Molecular Genetics, 2022

Multimodal imaging of a patient with RAB39B mutation.

Mackels L et al.

Neuroradiology, 2022

Dysfunction of RAB39B-Mediated Vesicular Trafficking in Lewy Body Diseases.

Koss DJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

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

Tang BL

Journal of Cellular Physiology, 2021

Parkinson's: A Disease of Aberrant Vesicle Trafficking.

Singh PK et al.

Annual Review of Cell and Developmental Biology, 2020

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.

Santoro C et al.

Bmc Neurology, 2020

Clinical and Neuropathological Features Associated With Loss of RAB39B.

Gao Y et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

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

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.

Woodbury-Smith M et al.

Molecular Autism, 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

RAB39B gene mutations are not linked to familial Parkinson's disease in China.

Kang JF et al.

Scientific Reports, 2016

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.

Hodges K et al.

Neurobiology of Aging, 2016

RAB39B mutations are a rare finding in Parkinson disease patients.

Löchte T et al.

Parkinsonism & Related Disorders, 2016

Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.

Yuan L et al.

Neurobiology of Aging, 2015

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.

Mata IF et al.

Molecular Neurodegeneration, 2015

X-linked Parkinson's disease.

Singleton A

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

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Wilson GR et al.

American Journal of Human Genetics, 2014

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