Identification of fragile X syndrome specific molecular markers in human fibroblasts: A useful model to test the efficacy of therapeutic drugs

Human Mutation

Volumn 35, Issue 12, 2014, Pages 1485-1494

  Kumari, Daman ^a   Bhattacharya, Aditi ^b   Nadel, Jeffrey ^c   Moulton, Kristen ^c   Zeak, Nicole M ^b   Glicksman, Anne ^d   Dobkin, Carl ^d   Brick, David J ^e   Schwartz, Philip H ^e   Smith, Carolyn B ^c   Klann, Eric ^b   Usdin, Karen ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b NEW YORK UNIVERSITY   (United States)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^d NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^e CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

Author keywords

Fibroblasts; FMR1; FMRP; Fragile X syndrome; Protein synthesis; S6K1

Indexed keywords

BIOLOGICAL MARKER; FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN; LEUCINE; MESSENGER RNA; PHOSPHATIDYLINOSITOL 3 KINASE; S6 KINASE;

ANIMAL; CASE CONTROL STUDY; CELL CULTURE; CYTOLOGY; DRUG SCREENING; FIBROBLAST; FRAGILE X SYNDROME; GENETICS; HUMAN; KNOCKOUT MOUSE; MALE; METABOLISM; MOUSE; PROTEIN SYNTHESIS;

ANIMALS; BIOMARKERS; CASE-CONTROL STUDIES; CELLS, CULTURED; DRUG EVALUATION, PRECLINICAL; FIBROBLASTS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; LEUCINE; MALE; MICE; MICE, KNOCKOUT; PHOSPHATIDYLINOSITOL 3-KINASES; PROTEIN BIOSYNTHESIS; RIBOSOMAL PROTEIN S6 KINASES; RNA, MESSENGER;

EID: 84911368657     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22699     Document Type: Article

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