MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution

Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria (MMA), homocystinuria (HC), or combined MMA/HC, and usually suffer developmental d...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Torices, Leire, de las Heras, Javier, Arango-Lasprilla, Juan Carlos, Cortés, Jesús M., Nunes-Xavier, Caroline E., Pulido, Rafael
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7847965/
https://ncbi.nlm.nih.gov/pubmed/33552904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100710
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