Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria
Mutations in the human MMAA gene cause the metabolic disorder cblA-type methylmalonic aciduria (MMA), although knowledge of the mechanism of dysfunction remains lacking. MMAA regulates the incorporation of the cofactor adenosylcobalamin, generated from the MMAB adenosyltransferase, into the destinat...
Main Authors: | Plessl, T, Bürer, C, Lutz, S, Yue, W, Baumgartner, M, Froese, D |
---|---|
Format: | Journal article |
Language: | English |
Published: |
Wiley
2017
|
Similar Items
-
Structural Study of the Complex of <i>cblC</i> Methylmalonic Aciduria and Homocystinuria-Related Protein MMACHC with Cyanocobalamin
by: Qin Xu, et al.
Published: (2022-03-01) -
CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report
by: Sunil Joghee, et al.
Published: (2018-09-01) -
Mouse models for methylmalonic aciduria.
by: Heidi L Peters, et al.
Published: (2012-01-01) -
Renal Involvement in Methylmalonic Aciduria
by: Ahmed M. Alkhunaizi, et al.
Published: (2017-09-01) -
Monitoring Methylmalonic Aciduria by NMR Urinomics
by: Alina Nicolescu, et al.
Published: (2020-11-01)