New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type

Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):640-648. doi: 10.1016/j.bbadis.2017.11.024. Epub 2017 Dec 2.
No abstract available

Keywords: ATR; Destabilizing mutations; MMA cblB type; MMAB; Pharmacological chaperones.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adaptor Proteins, Signal Transducing / metabolism
  • Alkyl and Aryl Transferases
  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / metabolism*
  • Binding Sites
  • Cell Survival
  • DNA, Complementary / metabolism
  • Drug Delivery Systems
  • Drug Design
  • Humans
  • Molecular Chaperones
  • Molecular Docking Simulation
  • Mutation*
  • Protein Binding
  • Protein Conformation
  • Proto-Oncogene Proteins c-cbl / genetics*
  • Proto-Oncogene Proteins c-cbl / metabolism
  • Transferases / genetics*
  • Transferases / metabolism

Substances

  • Adaptor Proteins, Signal Transducing
  • DNA, Complementary
  • Molecular Chaperones
  • Transferases
  • CBLB protein, human
  • Proto-Oncogene Proteins c-cbl
  • Alkyl and Aryl Transferases
  • MMAB protein, human

Supplementary concepts

  • Methylmalonic aciduria cblB type