Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.N143S
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CHMP2B

NM_014043.4:p.N143S

Associated Papers

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

Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review.

Arienti F et al.

Cells, 2021

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 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

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 C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

van der Zee J et al.

Human Molecular Genetics, 2008

Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.

van der Zee J et al.

Neuro-degenerative Diseases, 2007

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

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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."