期刊
CLINICAL GENETICS
卷 93, 期 3, 页码 450-458出版社
WILEY
DOI: 10.1111/cge.13088
关键词
conformational diseases; congenital disorders of glycosylation; inborn errors of metabolism; misfolding diseases; pharmacological chaperones; protein folding; proteostasis regulators
资金
- Fondo Investigacion Sanitaria [PI13/01239, PI16/00573]
- Fundacion Isabel Gemio
- Fundacion Ramon Areces
- European Regional Development Fund
Protein misfolding has been linked to numerous inherited diseases. Loss- and gain-of-function mutations (common features of genetic diseases) may cause the destabilization of proteins, leading to alterations in their properties and/or cellular location, resulting in their incorrect functioning. Misfolded proteins can, however, be rescued via the use of proteostasis regulators and/or pharmacological chaperones, suggesting that treatments with small molecules might be developed for a range of genetic diseases. This work describes the potential of these small molecules in this respect, including for the treatment of congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG).
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