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

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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Bibliographic Details
Main Authors: Leire Torices, Javier de las Heras, Juan Carlos Arango-Lasprilla, Jesús M. Cortés, Caroline E. Nunes-Xavier, Rafael Pulido
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Methylmalonic aciduria
Homocystinuria
cblD
MMADHC
Translational readthrough
Premature termination codon
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000045

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http://www.sciencedirect.com/science/article/pii/S2214426921000045

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