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Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease

Parkinsonism & related disorders, 2024-06, Vol.123, p.106038, Article 106038

2024

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Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes

Genes & development, 2020-04, Vol.34 (7-8), p.580-597

2020

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

Parkinsonism & related disorders, 2023-11, Vol.116, p.105855-105855, Article 105855

2023

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An updated review of Parkinson's disease genetics and clinicopathological correlations

Acta neurologica Scandinavica, 2017-03, Vol.135 (3), p.273-284

2017

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Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease

Frontiers in neurology, 2024-05, Vol.15, p.1404492-1404492

2024

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Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Human mutation, 2020-07, Vol.41 (7), p.1238-1249

2020

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RAB39B as a Chemosensitivity-Related Biomarker for Diffuse Large B-Cell Lymphoma

Frontiers in pharmacology, 2022-07, Vol.13, p.931501-931501

2022

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Dysfunction of RAB39B‐Mediated Vesicular Trafficking in Lewy Body Diseases

Movement disorders, 2021-08, Vol.36 (8), p.1744-1758

2021

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

Journal of cellular physiology, 2021-03, Vol.236 (3), p.1579-1592

Tang, Bor Luen

2021

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Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant

Parkinsonism & related disorders, 2016-10, Vol.31, p.148-150

2016

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RAB39B Deficiency Impairs Learning and Memory Partially Through Compromising Autophagy

Frontiers in cell and developmental biology, 2020-12, Vol.8, p.598622-598622

2020

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

Movement disorders, 2016-12, Vol.31 (12), p.1905-1909

2016

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Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

Frontiers in neurology, 2020-06, Vol.11, p.523-523

2020

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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

Molecular neurobiology, 2023-05, Vol.60 (5), p.2706-2728

2023

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

Neurobiology of aging, 2015-10, Vol.36 (10), p.2907.e11-2907.e12

2015

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Increased level of RAB39B leads to neuronal dysfunction and behavioural changes in mice

Journal of cellular and molecular medicine, 2023-05, Vol.27 (9), p.1214-1226

2023

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Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

Acta neuropathologica communications, 2019-10, Vol.7 (1), p.161-161, Article 161

2019

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RAB39B is redistributed in dementia with Lewy bodies and is sequestered within aβ plaques and Lewy bodies

Brain pathology (Zurich, Switzerland), 2021-01, Vol.31 (1), p.120-132

2021

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Rab GTPases: The Key Players in the Molecular Pathway of Parkinson's Disease

Frontiers in cellular neuroscience, 2017-03, Vol.11, p.81-81

2017

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X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Parkinsonism & related disorders, 2017-11, Vol.44, p.142-146

2017

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Coordination of AMPA receptor trafficking by Rab GTPases

Small GTPases, 2019-11, Vol.10 (6), p.419-432

2019

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

Frontiers in aging neuroscience, 2023-01, Vol.15, p.1087823-1087823

2023

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Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder

Movement disorders clinical practice (Hoboken, N.J.), 2024-03, Vol.11 (3), p.306-308

2024

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Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease

Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes

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

An updated review of Parkinson's disease genetics and clinicopathological correlations

Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

RAB39B as a Chemosensitivity-Related Biomarker for Diffuse Large B-Cell Lymphoma

Dysfunction of RAB39B‐Mediated Vesicular Trafficking in Lewy Body Diseases

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

Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant

RAB39B Deficiency Impairs Learning and Memory Partially Through Compromising Autophagy

Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication

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

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

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

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

Increased level of RAB39B leads to neuronal dysfunction and behavioural changes in mice

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

RAB39B is redistributed in dementia with Lewy bodies and is sequestered within aβ plaques and Lewy bodies

Rab GTPases: The Key Players in the Molecular Pathway of Parkinson's Disease

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Coordination of AMPA receptor trafficking by Rab GTPases

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

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

Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder

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