Associated Papers
Mislocalization of FTD3-associated mutant CHMP2B to the nucleus of human neurons due to loss of a nuclear export signal.
Jun YW et al.
Acta Neuropathologica Communications, 2026
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Truncation mutation of CHMP2B disrupts late endosome function but reduces TDP-43 aggregation through HSP70 upregulation.
Iguchi Y et al.
Neurochemistry International, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Nuclear and degradative functions of the ESCRT-III pathway: implications for neurodegenerative disease.
Keeley O et al.
Nucleus (austin, Tex.), 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology.
Diab R et al.
Frontiers in Cellular Neuroscience, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Autophagy Dysfunction in ALS: from Transport to Protein Degradation.
Cozzi M et al.
Journal of Molecular Neuroscience : Mn, 2022
The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Davidson JM et al.
Neurobiology of Disease, 2022
CHMP2B regulates TDP-43 phosphorylation and cytotoxicity independent of autophagy via CK1.
Deng X et al.
The Journal of Cell Biology, 2022
Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.
Ugbode C et al.
Neurobiology of Disease, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Pottier C et al.
Acta Neuropathologica, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
The role of CHMP2BIntron5 in autophagy and frontotemporal dementia.
Krasniak CS et al.
Brain Research, 2016
A network of RNA and protein interactions in Fronto Temporal Dementia.
Fontana F et al.
Frontiers in Molecular Neuroscience, 2015
The genetics and neuropathology of frontotemporal lobar degeneration.
Sieben A et al.
Acta Neuropathologica, 2012
The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway.
Han JH et al.
Biochemical and Biophysical Research Communications, 2012
Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response.
Bendotti C et al.
Progress in Neurobiology, 2012
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
Frontotemporal dementia caused by CHMP2B mutations.
Isaacs AM et al.
Current Alzheimer Research, 2011
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.
Ghanim M et al.
Journal of Neurology, 2010
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
Cox LE et al.
Plos One, 2010
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.
van der Zee J et al.
Neuro-degenerative Diseases, 2007
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Parkinson N et al.
Neurology, 2006
Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia.
Ferrari R et al.
Alzheimer Disease and Associated Disorders, 0