Developmental splicing deregulation in leukodystrophies related to eIF2B mutations

PLoS ONE

Volumn 7, Issue 6, 2012, Pages

  Huyghe, Aurélia ^a,b   Horzinski, Laetitia ^a,b   Hénaut, Alain ^c   Gaillard, Marina ^a,b   Bertini, Enrico ^d   Schiffmann, Raphael ^e   Rodriguez, Diana ^c,f,g   Dantal, Yann ^h   Boespflug Tanguy, Odile ^a,g,i   Fogli, Anne ^a,b,j  

^a Faculté de Médecine   (France)

^b UNIVERSITÉ CLERMONT AUVERGNE   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^f ARMAND TROUSSEAU HOSPITAL   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h Laboratoire de Biophysique   (France)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

^j UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; INITIATION FACTOR 2; MESSENGER RNA; REGULATOR PROTEIN;

ALDH3A2 GENE; ARTICLE; ASTROCYTE; BRAIN DEVELOPMENT; CELL MATURATION; CELL MUTANT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAPH3 GENE; DISEASE SEVERITY; DM20 GENE; EIF2B GENE; EIF2B5 GENE; ENDOPLASMIC RETICULUM STRESS; FEMALE; FETUS; GALC GENE; GENE; GENE CONTROL; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE OVEREXPRESSION; GFAP GENE; GLIA CELL; HCCS GENE; HNRNPC GENE; HNRNPD GENE; HNRNPF GENE; HNRNPH1 GENE; HNRNPR GENE; HNRNPU GENE; HNRPC GENE; HNRPH1 GENE; HNRPL GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; KIF5B GENE; LEUKODYSTROPHY; MALE; MITOCHONDRIAL RESPIRATION; MLC1 GENE; MRPL28 GENE; MRPS26 GENE; OLIGODENDROGLIA; ONSET AGE; PHENOTYPE; PLP GENE; PLP1 GENE; PRESCHOOL CHILD; PROTEIN SYNTHESIS; REGULATORY MECHANISM; RNA SPLICING; RNA STABILITY; TRANSCRIPTOMICS; VDAC3 GENE;

ANIMALS; BIOPSY; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; EUKARYOTIC INITIATION FACTOR-2B; FEMALE; FIBROBLASTS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GLIAL FIBRILLARY ACIDIC PROTEIN; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INFANT; MALE; MUTATION; MYELIN SHEATH; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 84862686742     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0038264     Document Type: Article

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