Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due t...
Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation
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Author / Creator
Tripathi, Priyanka , Guo, Haihong , Dreser, Alice , Yamoah, Alfred , Sechi, Antonio , Jesse, Christopher Marvin , Katona, Istvan , Doukas, Panagiotis , Nikolin, Stefan , Ernst, Sabrina , Aronica, Eleonora , Glaß, Hannes , Hermann, Andreas , Steinbusch, Harry , Feller, Alfred C. , Bergmann, Markus , Jaarsma, Dick , Weis, Joachim and Goswami, Anand
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Mutations in RNA binding proteins (RBPs) and in genes regulating autophagy are frequent causes of familial amyotrophic lateral sclerosis (fALS). The P56S mutation in vesicle-associated membrane protein-associated protein B (VAPB) leads to fALS (ALS8) and spinal muscular atrophy (SMA). While VAPB is primarily involved in the unfolded protein respons...
Alternative Titles
Full title
Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation
Authors, Artists and Contributors
Author / Creator
Guo, Haihong
Dreser, Alice
Yamoah, Alfred
Sechi, Antonio
Jesse, Christopher Marvin
Katona, Istvan
Doukas, Panagiotis
Nikolin, Stefan
Ernst, Sabrina
Aronica, Eleonora
Glaß, Hannes
Hermann, Andreas
Steinbusch, Harry
Feller, Alfred C.
Bergmann, Markus
Jaarsma, Dick
Weis, Joachim
Goswami, Anand
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2524564436
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2524564436
Other Identifiers
ISSN
2041-4889
E-ISSN
2041-4889
DOI
10.1038/s41419-021-03710-y