Cargando…

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology

The L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene encodes an important mitochondrial enzyme. However, its altered activity results in excessive levels of L-2-hydroxyglutarate, which results in diverse psychiatric features of intellectual disability. In the current study, we executed an in-silico...

Descripción completa

Detalles Bibliográficos
Autores principales: Muzammal, Muhammad, Di Cerbo, Alessandro, Almusalami, Eman M., Farid, Arshad, Khan, Muzammil Ahmad, Ghazanfar, Shakira, Al Mohaini, Mohammed, Alsalman, Abdulkhaliq J., Alhashem, Yousef N., Al Hawaj, Maitham A., Alsaleh, Abdulmonem A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9028441/
https://www.ncbi.nlm.nih.gov/pubmed/35456504
http://dx.doi.org/10.3390/genes13040698