The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Acta Neuropathologica Communications

Volumn 2, Issue 1, 2014, Pages

  Boizot, Alexia ^a,b   Talmat Amar, Yasmina ^a,b   Morrogh, Deborah ^c   Kuntz, Nancy L ^d   Halbert, Cecile ^e   Chabrol, Brigitte ^e   Houlden, Henry ^f   Stojkovic, Tanya ^g   Schulman, Brenda A ^h   Rautenstrauss, Bernd ^i,j   Bomont, Pascale ^a,b  

^a INSERM   (France)

^b UNIV MONTPELLIER   (France)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d NORTHWESTERN UNIVERSITY   (United States)

^e TIMONE HOSPITAL   (France)

^f MEDICAL RESEARCH COUNCIL   (United Kingdom)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁱ Medizinisch Genetisches Zentrum   (Germany)

^j LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

more..

Author keywords

CMT2; Diagnosis; E3 ligase; GAN; Gigaxonin; Instability; Modelization

Indexed keywords

CYTOSKELETON PROTEIN; GAN PROTEIN, HUMAN;

ADULT; ANIMAL; CHEMICAL STRUCTURE; CHILD; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; FEMALE; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETICS; GIANT AXONAL NEUROPATHY; HUMAN; INFORMATION PROCESSING; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; YOUNG ADULT;

ADULT; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; CYTOSKELETAL PROTEINS; DATASETS AS TOPIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION REGULATION; GIANT AXONAL NEUROPATHY; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PHENOTYPE; TRANSFECTION; YOUNG ADULT;

EID: 84921653089     PISSN: None     EISSN: 20515960     Source Type: Journal    
DOI: 10.1186/2051-5960-2-47     Document Type: Article

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