Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin

Previously, we reported a new missense mutation in the ANK1 gene that correlated with the hereditary spherocytosis phenotype. This mutation, resulting in L1340P substitution (HGMD CM149731), likely leads to the changes in the conformation of the ankyrin ZZUD domain important for ankyrin binding to s...

Descripción completa

Detalles Bibliográficos
Autores principales: Machnicka, Beata, Czogalla, Aleksander, Bogusławska, Dżamila M., Stasiak, Piotr, Sikorski, Aleksander F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864249/
https://www.ncbi.nlm.nih.gov/pubmed/36676098
http://dx.doi.org/10.3390/life13010151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864249/
https://www.ncbi.nlm.nih.gov/pubmed/36676098
http://dx.doi.org/10.3390/life13010151

Ejemplares similares