Associated Papers
Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.
Gao J et al.
Cell Death & Disease, 2026
Evaluating the effects of pro-myelinating drugs on motor function and myelination in a zebrafish model of genetic leukoencephalopathy.
Banerjee S et al.
Neuroscience Letters, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Hypomyelinated vps16 Mutant Zebrafish Exhibit Systemic and Neurodevelopmental Pathologies.
Banerjee S et al.
International Journal of Molecular Sciences, 2024
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk.
Goldstein O et al.
Molecular Genetics and Metabolism, 2023
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli M et al.
Journal of Medical Genetics, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Vision and sensorimotor defects associated with loss of Vps11 function in a zebrafish model of genetic leukoencephalopathy.
Banerjee S et al.
Scientific Reports, 2022
Autophagy deficiency in neurodevelopmental disorders.
Deng Z et al.
Cell & Bioscience, 2021
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Monfrini E et al.
Annals of Neurology, 2021
PP1C and PP2A are p70S6K Phosphatases Whose Inhibition Ameliorates HLD12-Associated Inhibition of Oligodendroglial Cell Morphological Differentiation.
Matsumoto N et al.
Biomedicines, 2020
Mendelian neurodegenerative disease genes involved in autophagy.
Stamatakou E et al.
Cell Discovery, 2020
Autophagy in childhood neurological disorders.
Zhu Y et al.
Developmental Medicine and Child Neurology, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.
Hörtnagel K et al.
Journal of Inherited Metabolic Disease, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
Zhang J et al.
Plos Genetics, 2016
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.
Edvardson S et al.
Journal of Medical Genetics, 2015
Characterization of the Expression of Vacuolar Protein Sorting 11 (Vps11) in Mammalian Oligodendrocytes.
Skoff RP et al.
Asn Neuro, 0