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Article

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

Annals of clinical and translational neurology - 1 Mar 2023

Natera-de Benito Daniel, Olival Jonathan, Garcia-Cabau Carla, Jou Cristina, Roldan Mònica, Codina Anna, Expósito-Escudero Jessica, Batlle Cristina, Carrera-García Laura, Ortez Carlos, Salvatella Xavier, Palau Francesc, Nascimento Andrés, Hoenicka Janet

Abstract excerpt

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) of ANXA11. Some ALS-related variants are known to affect ANXA11...

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Identifiers

PMID: 36651622
DOI: 10.1002/acn3.51731
PMCID: PMC10014011

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