Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways

Journal of Cell Science

Volumn 124, Issue 19, 2011, Pages 3319-3331

  Lee, Samuel M ^a   Olzmann, James A ^a   Chin, Lih Shen ^a   Li, Lian ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Aggresome; Charcot Marie Tooth disease; Litaf; Misfolded protein; Simple

Indexed keywords

CYSTEINE; MEMBRANE PROTEIN; PROTEASOME; PROTEIN SIMPLE; UNCLASSIFIED DRUG;

AGGRESOME; ANIMAL TISSUE; ARTICLE; AUTOPHAGY; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CYTOSOL; ENDOSOME; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN PROCESSING; SCHWANN CELL;

AMINO ACID SEQUENCE; ANIMALS; AUTOPHAGY; CHARCOT-MARIE-TOOTH DISEASE; CONSERVED SEQUENCE; ENDOSOMES; HEK293 CELLS; HUMANS; LEUPEPTINS; LYSOSOMES; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; PERIPHERAL NERVES; PRIMARY CELL CULTURE; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; PROTEOLYSIS; SCHWANN CELLS; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 80054037232     PISSN: 00219533     EISSN: 14779137     Source Type: Journal    
DOI: 10.1242/jcs.087114     Document Type: Article

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