Log in to save to my catalogue

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 t...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2524564436

Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation

About this item

Full title

Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation

Publisher

London: Nature Publishing Group UK

Journal title

Cell death & disease, 2021-05, Vol.12 (5), p.466-466, Article 466

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

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

Identifiers

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

How to access this item