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Human Molecular Genetics
Article
License: implied-oa
Data sources: UnpayWall
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PubMed Central
Other literature type . 2011
License: CC BY NC
Data sources: PubMed Central
Human Molecular Genetics
Article . 2011 . Peer-reviewed
Data sources: Crossref
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Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

Authors: Mitne-Neto, Miguel; Machado-Costa, Marcela UNIFESP; Marchetto, Maria C. N.; Bengtson, Mario H.; Joazeiro, Claudio A.; Tsuda, Hiroshi; Bellen, Hugo J.; +5 Authors

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

Abstract

Amyotrophic lateral sclerosis (ALS) is an incurable neuromuscular disease that leads to a profound loss of life quality and premature death. Around 10% of the cases are inherited and ALS8 is an autosomal dominant form of familial ALS caused by mutations in the vamp-associated protein B/C (VAPB) gene. The VAPB protein is involved in many cellular processes and it likely contributes to the pathogenesis of other forms of ALS besides ALS8. A number of successful drug tests in ALS animal models could not be translated to humans underscoring the need for novel approaches. The induced pluripotent stem cells (iPSC) technology brings new hope, since it can be used to model and investigate diseases in vitro. Here we present an additional tool to study ALS based on ALS8-iPSC. Fibroblasts from ALS8 patients and their non-carrier siblings were successfully reprogrammed to a pluripotent state and differentiated into motor neurons. We show for the first time that VAPB protein levels are reduced in ALS8-derived motor neurons but, in contrast to over-expression systems, cytoplasmic aggregates could not be identified. Our results suggest that optimal levels of VAPB may play a central role in the pathogenesis of ALS8, in agreement with the observed reduction of VAPB in sporadic ALS.

Keywords

Male, Motor Neurons, Amyotrophic Lateral Sclerosis, Induced Pluripotent Stem Cells, Vesicular Transport Proteins, Down-Regulation, Cell Differentiation, Articles, Fibroblasts, Pedigree, Mutation, Humans, Female, Cells, Cultured

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
190
Top 1%
Top 10%
Top 1%
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