Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons

Neurology

Volumn 82, Issue 10, 2014, Pages 873-878

  Klein, Christopher J ^a   Wu, Yanhong ^a   Vogel, Peter ^c   Goebel, Hans H ^d   Bönnemann, Carsten ^e   Zukosky, Kristen ^e   Botuyan, Maria Victoria ^b   Duan, Xiaohui ^a   Middha, Sumit ^a   Atkinson, Elizabeth J ^a   Mer, Georges ^b   Dyck, Peter J ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c DEPARTMENT OF CARDIOLOGY   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DCAF8 PROTEIN; MUTANT PROTEIN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CELL STRAIN HEK293; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME DEFECT; EXOME; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; GIANT AXONAL NEUROPATHY; HAPLOTYPE MAP; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOPRECIPITATION; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MIDDLE AGED; NEUROFILAMENT; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AXONS; BIOLOGICAL MARKERS; CARDIOMYOPATHIES; CARRIER PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; CULLIN PROTEINS; DNA-BINDING PROTEINS; EXOME; GENETIC LINKAGE; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN BINDING; UBIQUITIN-PROTEIN LIGASES;

EID: 84898757440     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000206     Document Type: Article

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