A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

Combined D, L-2-Hydroxyglutaric Aciduria (D,L-2HGA) is a rare genetic disorder caused by recessive mutations in the SLC25A1 gene that encodes the mitochondrial citrate carrier protein (CIC). SLC25A1 deficiency leads to a secondary increase in mitochondrial 2-ketoglutarate that, in turn, is reduced t...

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Detalles Bibliográficos
Autores principales: Phua, Yu Leng, D’Annibale, Olivia M, Karunanidhi, Anuradha, Mohsen, Al-Walid, Kirmse, Brian, Dobrowolski, Steven F, Vockley, Jerry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915603/
https://www.ncbi.nlm.nih.gov/pubmed/36778323
http://dx.doi.org/10.1101/2023.02.02.526527

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915603/
https://www.ncbi.nlm.nih.gov/pubmed/36778323
http://dx.doi.org/10.1101/2023.02.02.526527

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