Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.K124delFs
Back to variants list

RAB39B

NM_171998.4:p.K124delFs

Associated Papers

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

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

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

Ciammola A et al.

Parkinsonism & Related Disorders, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."