Effect on cell survival and cytoophidium assembly of the adRP-10-related IMPDH1 missense mutation Asp226Asn

Introduction: Inosine monophosphate dehydrogenase 1 (IMPDH1) is a critical enzyme in the retina, essential for the correct functioning of photoreceptor cells. Mutations in IMPDH1 have been linked to autosomal dominant retinitis pigmentosa subtype 10 (adRP-10), a genetic eye disorder. Some of these m...

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Detalles Bibliográficos
Autores principales: Keppeke, Gerson Dierley, Chang, Chia-Chun, Zhang, Ziheng, Liu, Ji-Long
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10507268/
https://www.ncbi.nlm.nih.gov/pubmed/37731818
http://dx.doi.org/10.3389/fcell.2023.1234592

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10507268/
https://www.ncbi.nlm.nih.gov/pubmed/37731818
http://dx.doi.org/10.3389/fcell.2023.1234592

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