Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles
Summary Amyotrophic Lateral Sclerosis (ALS) is a motor neuron degenerative disease characterized by a progressive, and ultimately fatal, muscle paralysis. The human VAMP-Associated Protein B (hVAPB) is the causative gene of ALS type 8. Previous studies have shown that a loss-of-function mechanism is...
Main Authors: | Mario Sanhueza, Luigi Zechini, Trudy Gillespie, Giuseppa Pennetta |
---|---|
Format: | Article |
Language: | English |
Published: |
The Company of Biologists
2013-12-01
|
Series: | Biology Open |
Subjects: | |
Online Access: | http://bio.biologists.org/content/3/1/59 |
Similar Items
-
Sequestosome 1 Is Part of the Interaction Network of VAPB
by: Christina James, et al.
Published: (2021-12-01) -
Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil
by: Victor Kosac, et al.
Published: (2013-10-01) -
VAPB ER-Aggregates, A Possible New Biomarker in ALS Pathology
by: Maria Piera L Cadoni, et al.
Published: (2020-01-01) -
Disruption of the VAPB-PTPIP51 ER-mitochondria tethering proteins in post-mortem human amyotrophic lateral sclerosis
by: Naomi Hartopp, et al.
Published: (2022-08-01) -
Characterization of the Deep-Sea Streptomyces sp. SCSIO 02999 Derived VapC/VapB Toxin-Antitoxin System in Escherichia coli
by: Yunxue Guo, et al.
Published: (2016-07-01)