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Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_078decfbead04403a37de8b0a43ecdd4

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

About this item

Full title

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

Publisher

United States: John Wiley & Sons, Inc

Journal title

Annals of clinical and translational neurology, 2023-03, Vol.10 (3), p.408-425

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Objective
Mutations in ANXA11 cause amyotrophic lateral sclerosis (ALS) and have recently been identified as a cause of multisystem proteinopathy and adult‐onset muscular dystrophy. These conditions are adult‐onset diseases and result from the substitution of Aspartate 40 (Asp40) for an apolar residue in the intrinsically disordered domain (IDD)...

Alternative Titles

Full title

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_078decfbead04403a37de8b0a43ecdd4

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_078decfbead04403a37de8b0a43ecdd4

Other Identifiers

ISSN

2328-9503

E-ISSN

2328-9503

DOI

10.1002/acn3.51731

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