Associated Papers
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
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
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
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
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Woodbury-Smith M et al.
Molecular Autism, 2017
Genetics, molecular biology, and phenotypes of x-linked epilepsy.
Deng H et al.
Molecular Neurobiology, 2014
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Giannandrea M et al.
American Journal of Human Genetics, 2010
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