Nucleocytoplasmic transport defect in a North American patient with ALS8
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.515
Abstract: Amyotrophic lateral sclerosis 8 (ALS8) is a rare progressive neurodegenerative disease resulting from mutation in the gene for vesicle‐associated membrane protein‐associated protein B. We evaluated a North American patient using exome sequencing, and identified a… read more here.
Keywords: american patient; north american; als8; nucleocytoplasmic transport ... See more keywords
Overexpression of mTOR in Leukocytes from ALS8 Patients.
Sign Up to like & getrecommendations! Published in 2023 at "Current neuropharmacology"
DOI: 10.2174/1570159x21666230201151016
Abstract: The mutated VAPBP56S (vesicle B associated membrane protein - P56S) protein has been described in a Brazilian family and classified as Amyotrophic Lateral Sclerosis type 8 (ALS8). We aimed to study altered biochemical and immunological… read more here.
Keywords: type vapb; als8; als8 patients; mtor ... See more keywords