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

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

Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. Here the authors generated mouse models of a human syndrome due to mutations i...

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Bibliographic Details
Main Authors: Tiffany Chern, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché
Format: Article
Language:English
Published: Nature Portfolio 2022-01-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-27759-7

Internet

https://doi.org/10.1038/s41467-021-27759-7

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