The Y831C Mutation of the POLG Gene in Dementia

Background: The POLG gene encodes the catalytic subunit of DNA polymerase γ, which is crucial for mitochondrial DNA (mtDNA) repair and replication. Gene mutation alters the stability of mtDNA and is associated with several clinical presentations, such as dysarthria and ophthalmoplegia (SANDO), progr...

Descripción completa

Detalles Bibliográficos
Autores principales: Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Lanza, Giuseppe, Cantone, Mariagiovanna, Ferri, Raffaele, Scuderi, Carmela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136026/
https://www.ncbi.nlm.nih.gov/pubmed/37189790
http://dx.doi.org/10.3390/biomedicines11041172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136026/
https://www.ncbi.nlm.nih.gov/pubmed/37189790
http://dx.doi.org/10.3390/biomedicines11041172

Ejemplares similares