Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Nature Genetics

Volumn 36, Issue 6, 2004, Pages 597-601

  Irobi, Joy ^a   Van Impe, Katrien ^a   Seeman, Pavel ^b   Jordanova, Albena ^c   Dierick, Ines ^a   Verpoorten, Nathalie ^a   Michalik, Andrej ^a   De Vriendt, Els ^a   Jacobs, An ^a   Van Gerwen, Veerle ^a   Vennekens, Krist'l ^a   Mazanec, Radim ^b   Tournev, Ivailo ^c   Hilton Jones, David ^d   Talbot, Kevin ^d,e   Kremensky, Ivo ^c   Van Den Bosch, Ludo ^f   Robberecht, Wim ^f   Vandekerckhove, Joël ^a   Van Broeckhoven, Christine ^a   Gettemans, Jan ^a   De Jonghe, Peter ^a,g   Timmerman, Vincent ^a   more..

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b CHARLES UNIVERSITY   (Czech Republic)

^c MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^d RADCLIFFE INFIRMARY   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY OF LEUVEN   (Belgium)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 22; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CELL CULTURE; CHROMOSOME 12Q; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISTAL MOTOR NEUROPATHY; DNA SEQUENCE; EMBRYO; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MOTOR NEUROPATHY; MUSCLE ATROPHY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN BINDING; PROTEIN DEFECT; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; WASTING SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CHARCOT-MARIE-TOOTH DISEASE; COS CELLS; FEMALE; HEAT-SHOCK PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN-SERINE-THREONINE KINASES; RECOMBINANT PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

EID: 2642539919     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1328     Document Type: Article

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