Associated Papers
Secretion of endoplasmic reticulum protein VAPB/ALS8 requires topological inversion.
Kamemura K et al.
Nature Communications, 2024
A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.
Salemi M et al.
Biomedicines, 2023
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
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
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
Pensato V et al.
Journal of Clinical Medicine, 2020
Multiple functions of the ER-resident VAP and its extracellular role in neural development and disease.
Kamemura K et al.
Journal of Biochemistry, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Krüger S et al.
Frontiers in Molecular Neuroscience, 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
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady J et al.
Annals of Neurology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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
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
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
van Blitterswijk M et al.
Neurobiology of Aging, 2012
ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB.
Suzuki H et al.
Journal of Neurochemistry, 2009
New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.
Landers JE et al.
Neurology, 2008
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
Conforti FL et al.
Journal of Negative Results in Biomedicine, 2006