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
Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Synaptic deregulation of cholinergic projection neurons causes olfactory dysfunction across five fly Parkinsonism models.
Pech U et al.
Elife, 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
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
Dopaminergic Neurons Differentiated from LRRK2 I1371V-Induced Pluripotent Stem Cells Display a Lower Yield, α-Synuclein Pathology, and Functional Impairment.
Jagtap S et al.
Acs Chemical Neuroscience, 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
Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort.
Gao Y et al.
Frontiers in Neurology, 2020
Rab8 Promotes Mutant HTT Aggregation, Reduces Neurodegeneration, and Ameliorates Behavioural Alterations in a Drosophila Model of Huntington's Disease.
Delfino L et al.
Journal of Huntington's Disease, 2020
Extended Study of NUS1 Gene Variants in Parkinson's Disease.
Yuan L et al.
Frontiers in Neurology, 2020
RAB39B Deficiency Impairs Learning and Memory Partially Through Compromising Autophagy.
Niu M et al.
Frontiers in Cell and Developmental Biology, 2020
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
Vesicular Dysfunction and the Pathogenesis of Parkinson's Disease: Clues From Genetic Studies.
Ebanks K et al.
Frontiers in Neuroscience, 2019
Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.
Gao Y et al.
Stem Cell Research, 2018
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
Mutations analysis of RAB39B gene in Chinese early-onset Parkinson's disease.
Liu Z et al.
Parkinsonism & Related Disorders, 2016
RAB39B mutations are a rare finding in Parkinson disease patients.
Löchte T et al.
Parkinsonism & Related Disorders, 2016
Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.
Steger M et al.
Elife, 2016
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
Mata IF et al.
Molecular Neurodegeneration, 2015