Pathogenic cysteine mutations affect progranulin function and production of mature granulins

Journal of Neurochemistry

Volumn 112, Issue 5, 2010, Pages 1305-1315

  Wang, Jun ^a   Van Damme, Philip ^b   Cruchaga, Carlos ^a   Gitcho, Michael A ^a   Vidal, Jose Manuel ^c   Seijo Martínez, Manuel ^d   Wang, Lei ^e   Wu, Jane Y ^e   Robberecht, Wim ^b   Goate, Alison ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY OF BARCELONA   (Spain)

^d Hospital Comarcal do Salnes   (Spain)

^e NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Elastase; Frontotemporal dementia; Granulin; Neurite outgrowth; Neuronal survival; Progranulin

Indexed keywords

CYSTEINE; ELASTASE; MESSENGER RNA; PROGRANULIN; UBIQUITIN;

APHASIA; ARTICLE; BLOOD SAMPLING; CELL STRAIN HEK293; CELL SURVIVAL; ENZYME BLOOD LEVEL; ENZYME SYNTHESIS; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; IMMUNOBLOTTING; NERVE CELL; NERVE DEGENERATION; NERVE FIBER GROWTH; PATHOGENICITY; PLASMID; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN SECRETION; RNA ISOLATION; SITE DIRECTED MUTAGENESIS;

ANIMALS; ARGININE; AXONS; BRAIN; CELL ENLARGEMENT; CELL LINE, TRANSFORMED; CYSTEINE; DITHIOTHREITOL; EMBRYO, MAMMALIAN; ENZYME-LINKED IMMUNOSORBENT ASSAY; FAMILY HEALTH; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GREEN FLUORESCENT PROTEINS; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MOTOR NEURONS; MUTATION; NEURITES; PANCREATIC ELASTASE; RATS; RATS, WISTAR; RNA, MESSENGER; TRANSFECTION; TYROSINE;

EID: 75949130374     PISSN: 00223042     EISSN: 14714159     Source Type: Journal    
DOI: 10.1111/j.1471-4159.2009.06546.x     Document Type: Article

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