Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

Human Molecular Genetics

Volumn 12, Issue 11, 2003, Pages 1223-1231

  Marx, Frank P ^a   Holzmann, Carsten ^b   Strauss, Karsten M ^a   Li, Lei ^b,c   Eberhardt, Olaf ^a   Gerhardt, Ellen ^a   Cookson, Mark R ^d   Hernandez, Dena ^d   Farrer, Matt J ⁱ   Kachergus, Jennifer ⁱ   Engelender, Simone ^e   Ross, Christopher A ^f   Berger, Klaus ^g   Schöls, Ludger ^h   Schulz, Jörg B ^a   Riess, Olaf ^a   Krüger, Rejko ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF ROSTOCK   (Germany)

^c HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF MÜNSTER   (Germany)

^h RUHR UNIVERSITY BOCHUM   (Germany)

ⁱ NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; ARGININE; CELL PROTEIN; CYSTEINE; PARKIN; PROTEASOME; STAUROSPORINE; SYNPHILIN 1; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN; CELL DEATH; CELL INCLUSION; CELL LINE; CHROMOSOME ANALYSIS; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; ENZYME INHIBITION; ETHNOLOGY; FAMILIAL DISEASE; FEMALE; FUNCTIONAL ASSESSMENT; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENETIC CODE; GENETIC SUSCEPTIBILITY; GENETIC TRANSFECTION; GERMANY; HUMAN; HUMAN CELL; LEWY BODY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NERVE CELL; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SENSITIZATION; STRESS; WILD TYPE;

ACETYLCYSTEINE; ADULT; AGED; ALPHA-SYNUCLEIN; AMINO ACID SEQUENCE; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELL DEATH; CELLS, CULTURED; CYSTEINE ENDOPEPTIDASES; CYSTEINE PROTEINASE INHIBITORS; FEMALE; GREEN FLUORESCENT PROTEINS; HUMANS; LUMINESCENT PROTEINS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; MUTATION; NERVE TISSUE PROTEINS; NEURONS; PARKINSON DISEASE; PROTEASOME ENDOPEPTIDASE COMPLEX; RECOMBINANT FUSION PROTEINS; STAUROSPORINE; SYNUCLEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 12444281013     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg134     Document Type: Article

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