Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders

PLoS ONE

Volumn 4, Issue 12, 2009, Pages

  Horzinski, Laetitia ^a   Huyghe, Aurélia ^a   Cardoso, Marie Céleste ^a,b   Gonthier, Céline ^a   Ouchchane, Lemlih ^a,c   Schiffmann, Raphael ^d   Blanc, Pierre ^a,b   Boespflug Tanguy, Odile ^a,e   Fogli, Anne ^a,b  

^a UNIVERSITÉ CLERMONT AUVERGNE   (France)

^b UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^c SERVICE DE RHUMATOLOGIE   (France)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^e HÔTEL DIEU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ASIALOTRANSFERRIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; TRANSFERRIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLOOD CEREBROSPINAL FLUID BARRIER; BRAIN DISEASE; CHILD; CHILDHOOD ATAXIA WITH CENTRAL HYPOMYELINATION; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST; GENE MUTATION; GUANINE NUCLEOTIDE EXCHANGE FACTOR RELATED DISORDER; HUMAN; HUMAN CELL; INFANT; LEUKODYSTROPHY; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; PRESCHOOL CHILD; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN DEFECT; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; VANISHING WHITE MATTER DISEASE; AGING; CASE CONTROL STUDY; DEMYELINATING DISEASE; GENETICS; LYMPHOCYTE; METABOLISM; MIDDLE AGED; MUTATION; ONSET AGE; PATHOLOGY; RECEIVER OPERATING CHARACTERISTIC;

EUKARYOTA;

ADOLESCENT; ADULT; AGE OF ONSET; AGING; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; EUKARYOTIC INITIATION FACTOR-2B; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INFANT; LYMPHOCYTES; MIDDLE AGED; MUTATION; ROC CURVE; YOUNG ADULT;

EID: 77949535474     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0008318     Document Type: Article

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