Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

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 resi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014011/
https://www.ncbi.nlm.nih.gov/pubmed/36651622
http://dx.doi.org/10.1002/acn3.51731

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014011/
https://www.ncbi.nlm.nih.gov/pubmed/36651622
http://dx.doi.org/10.1002/acn3.51731

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