Protein misfolding and degradation in genetic diseases

Human Mutation

Volumn 14, Issue 3, 1999, Pages 186-198

  Bross, Peter ^a,c   Corydon, Thomas J ^b   Andresen, Brage S ^a,b   Jørgensen, Malene M ^a   Bolund, Lars ^b   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

ACADM; ACADS; ADA; CFTR; Chaperone; Conformational disease; CRYAA; CRYAB; Degradation; Folding; Mutant protein; Mutation; PAH; PGN; PI; Protease; Protein quality control

Indexed keywords

ARTICLE; GENE MUTATION; GENETIC DISORDER; HUMAN; MEDICAL GENETICS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FOLDING; STRUCTURE ACTIVITY RELATION;

CELL COMPARTMENTATION; ENDOPLASMIC RETICULUM; GENETIC DISEASES, INBORN; HUMANS; INTRACELLULAR FLUID; LYSOSOMES; MITOCHONDRIA; MOLECULAR CHAPERONES; MUTATION; PEPTIDE HYDROLASES; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEINS;

EID: 0032819023     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J     Document Type: Article

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