Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

Journal of Inherited Metabolic Disease

Volumn 23, Issue 5, 2000, Pages 441-447

  Gregersen, N ^a   Bross, P ^a   Jorgensen M M ^a   Corydon, T J ^b   Andresen, B S ^a,b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CHAPERONE; MUTANT PROTEIN; PEPTIDE; POLYPEPTIDE; PROTEINASE;

CONTROLLED STUDY; CYSTIC FIBROSIS; ENZYME DEFICIENCY; GENETIC DISORDER; HUMAN; PHENOTYPE; PHENYLKETONURIA; POINT MUTATION; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN STABILITY; PROTEIN SYNTHESIS; REVIEW;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CYTOSOL; ENDOPLASMIC RETICULUM; GENETIC DISEASES, INBORN; HUMANS; MITOCHONDRIA; MUTATION; PHENYLKETONURIAS; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEINS;

EID: 0033931897     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005663728291     Document Type: Review

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