Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa069
Abstract: Amyotrophic Lateral Sclerosis type 8 (ALS8) is an autosomal dominant form of ALS, which is caused by pathogenic variants in the VAPB gene. Here we investigated five ALS8 patients, classified as 'severe' and 'mild' from… read more here.
Keywords: motor neurons; motor; ipsc derived; als8 patients ... 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