Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

Combined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn error of intracellular cobalamin metabolism and due to mutations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC). Recently, mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) were shown...

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Detalles Bibliográficos
Autores principales: Chern, Tiffany, Achilleos, Annita, Tong, Xuefei, Hill, Matthew C., Saltzman, Alexander B., Reineke, Lucas C., Chaudhury, Arindam, Dasgupta, Swapan K., Redhead, Yushi, Watkins, David, Neilson, Joel R., Thiagarajan, Perumal, Green, Jeremy B. A., Malovannaya, Anna, Martin, James F., Rosenblatt, David S., Poché, Ross A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748873/
https://www.ncbi.nlm.nih.gov/pubmed/35013307
http://dx.doi.org/10.1038/s41467-021-27759-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748873/
https://www.ncbi.nlm.nih.gov/pubmed/35013307
http://dx.doi.org/10.1038/s41467-021-27759-7

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