Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

Human Molecular Genetics

Volumn 20, Issue 12, 2011, Pages 2322-2332

  Shen, Yiguo ^a   Lee, Hsien Yang ^a   Rawson, Joel ^a   Ojha, Sunil ^b   Babbitt, Patricia ^b   Fu, Ying Hui ^a   Ptácek, Louis J ^a,c  

^a Department of Neurology ^*  (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTATHIONE; PROTEIN; PROTEIN PNKD; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DYSKINESIA; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE; GENE MUTATION; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD GENE; PRIORITY JOURNAL; PROTEIN CLEAVAGE; PROTEIN DEGRADATION; PROTEIN PROCESSING; PROTEIN STABILITY; TRANSGENIC MOUSE;

ANIMALS; BETA-LACTAMASES; BLOTTING, WESTERN; CELLS, CULTURED; CHOREA; DROSOPHILA; FLUORESCENT ANTIBODY TECHNIQUE; IMMUNOPRECIPITATION; LUCIFERASES; MICE; MICE, TRANSGENIC; MUSCLE PROTEINS; MUTATION, MISSENSE; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY;

ANIMALIA; MUS; MUS MUSCULUS;

EID: 79957489941     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr125     Document Type: Article

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