Associated Papers
Genetic and clinical insights into ALS8: exploring the impact of VAPB pathogenic variants in familial amyotrophic lateral sclerosis.
Reis AHO et al.
Arquivos De Neuro-psiquiatria, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Disclosing Pathogenic Variant Effects on the Structural Dynamics of the VAPB MSP Domain Causing Familial ALS.
Bashar MA et al.
International Journal of Molecular Sciences, 2025
Pathogenic mechanisms of amyotrophic lateral sclerosis-linked VAPB P56S mutation in the degeneration of corticospinal motor neurons.
Yang X et al.
Ageing and Neurodegenerative Diseases, 2025
Secretion of endoplasmic reticulum protein VAPB/ALS8 requires topological inversion.
Kamemura K et al.
Nature Communications, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
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
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
VAP Proteins - From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease.
Kors S et al.
Frontiers in Cell and Developmental Biology, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration.
Oliveira D et al.
Neural Regeneration Research, 2021
Amyotrophic lateral sclerosis-associated Vap33 is required for maintaining neuronal dendrite morphology and organelle distribution in Drosophila.
Kamemura K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021
VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway.
Mao D et al.
Autophagy, 2019
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics.
Sun YM et al.
Journal of Neurology, 2017
Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.
Giannoccaro MP et al.
Journal of Neurology, 2017
Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum.
Shahheydari H et al.
Frontiers in Molecular Neuroscience, 2017
Neuronal overexpression of human VAPB slows motor impairment and neuromuscular denervation in a mouse model of ALS.
Kim JY et al.
Human Molecular Genetics, 2016
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Kun-Rodrigues C et al.
Human Molecular Genetics, 2015
Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.
Larroquette F et al.
Human Molecular Genetics, 2015
Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS.
Navone F et al.
Cells, 2015
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Lattante S et al.
Trends in Genetics : Tig, 2015
Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.
Testi S et al.
Journal of Alzheimer's Disease : Jad, 2015
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.
Vinay Kumar C et al.
Journal of Theoretical Biology, 2014
First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.
Chattopadhyay D et al.
Biochemical and Biophysical Research Communications, 2014
Expression of vesicle-associated membrane-protein-associated protein B cleavage products in peripheral blood leukocytes and cerebrospinal fluid of patients with sporadic amyotrophic lateral sclerosis.
Deidda I et al.
European Journal of Neurology, 2014
Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles.
Sanhueza M et al.
Biology Open, 2014
No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.
Ingre C et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
Kabashi E et al.
Human Molecular Genetics, 2013
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
van Blitterswijk M et al.
Neurobiology of Aging, 2012
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
van Blitterswijk M et al.
Current Opinion in Neurology, 2012
Mutant VAPB: Culprit or Innocent Bystander of Amyotrophic Lateral Sclerosis?
Borgese N et al.
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