SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

Human Mutation

Volumn 25, Issue 4, 2005, Pages 372-383

  Saifi, Gulam Mustafa ^a   Szigeti, Kinga ^a   Wiszniewski, Wojciech ^a   Shy, Michael E ^b   Krajewski, Karen ^b   Hausmanowa Petrusewicz, Irena ^c   Kochanski, Andrzej ^c   Reeser, Suzanne ^d   Mancias, Pedro ^f   Butler, Ian ^f   Lupski, James R ^a,e,g  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^d YORK HOSPITAL   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

^f UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^g NONE   (United States)

Author keywords

CMT; CMTIC; E3 ligase; LITAF; Multivesicular protein sorting; Neuropathy; SIMPLE; Ubiquitination

Indexed keywords

ADAPTOR PROTEIN; CLATHRIN; NUCLEOTIDE; PROTEASOME; PROTEIN; PROTEIN SIMPLE; TSG 10 PROTEIN; UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE NEDD4; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BIOINFORMATICS; CHILD; CHROMOSOME; COHORT ANALYSIS; CONTROLLED STUDY; DEMYELINATION; ENDOSOME; ENZYME ACTIVITY; FAMILY; FEMALE; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; NERVE FIBER; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN INTERACTION; PROTEIN MOTIF; UBIQUITINATION;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION FACTORS; UBIQUITIN-PROTEIN LIGASES;

EID: 20244367606     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20153     Document Type: Article

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