Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations

Author:

Coulter-Mackie M.B.,Lian Q.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference57 articles.

1. The nature and mechanisms of human gene mutation;Antonarakis,2001

2. Degradation of mutant proteins, underlying “loss of function” phenotypes, plays a major role in genetic disease;Wateris;Curr. Issues. Mol. Biol.,2001

3. Experimental investigation of protein folding and misfolding;Dobson;Methods,2004

4. Protein degradation and protection against misfolded or damaged proteins;Goldberg;Nature,2003

5. Role of quality control pathways in human diseases involving protein misfolding;Welch;Cell Dev. Biol.,2004

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