Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

Daniel Natera-de BenitoJonathan OlivalCarla Garcia-CabauCristina JouMònica RoldanAnna CodinaJessica Expósito-EscuderoCristina BatlleLaura Carrera-GarcíaCarlos OrtezXavier SalvatellaFrancesc PalauAndrés NascimentoJanet Hoenicka

Published in: Annals of clinical and translational neurology (2023)

We demonstrate common pathophysiology for disorders associated with ANXA11 Asp40 allelic variants. Clinical phenotypes may result from different deleterious impacts of variants upon ANXA11 stability against aggregation, and differential muscle or motor neuron dysfunction expressed as a temporal and tissue-specific continuum.

Keyphrases

copy number
skeletal muscle
oxidative stress