Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes

Human Mutation

Volumn 32, Issue 9, 2011, Pages 1036-1045

  Liu, Rui ^a,b,c   Van Der Lei, Hannemieke D W ^d   Wang, Xuemin ^b,c   Wortham, Noel C ^b   Tang, Hua ^c   van Berkel, Carola G M ^d   Mufunde, Tsitsi Arikana ^b   Huang, Weida ^a   Van Der Knaap, Marjo S ^d   Scheper, Gert C ^d   Proud, Christopher G ^b,c  

^a FUDAN UNIVERSITY   (China)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c Life Sciences Centre   (Canada)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CACH; Childhood ataxia with central nervous system hypomyelination; Translation initiation factor; VWM

Indexed keywords

EUKARYOTIC INITIATION FACTOR 2B2; EUKARYOTIC INITIATION FACTOR 2B3; EUKARYOTIC INITIATION FACTOR 2B4; EUKARYOTIC INITIATION FACTOR 2B5; GUANINE NUCLEOTIDE EXCHANGE FACTOR; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DISEASE; DISEASE SEVERITY; GENE ACTIVITY; GENE FUNCTION; GENE MUTATION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; VANISHING WHITE MATTER DISEASE;

BIOLOGICAL ASSAY; CELL EXTRACTS; EUKARYOTIC INITIATION FACTOR-2B; HEK293 CELLS; HUMANS; LEUKOENCEPHALOPATHIES; MULTIPROTEIN COMPLEXES; MUTANT PROTEINS; MUTATION; RECOMBINANT PROTEINS; REPRODUCIBILITY OF RESULTS; SEQUENCE HOMOLOGY, AMINO ACID;

EUKARYOTA;

EID: 80051690654     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21535     Document Type: Article

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