Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

Annals of Neurology

Volumn 51, Issue 2, 2002, Pages 264-270

  Van Der Knaap, Marjo S ^a   Leegwater, Peter A J ^a   Könst, Andrea A M ^a   Visser, Allerdien ^a   Naidu, Sakkubai ^b   Oudejans, Cees B M ^a   Schutgens, Ruud B H ^a   Pronk, Jan C ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; PROTEIN; PROTEIN SUBUNIT; RNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHRONIC DISEASE; CLINICAL ARTICLE; DETERIORATION; DISEASE COURSE; EUKARYOTE EVOLUTION; FEVER; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ANALYSIS; HEAD INJURY; HUMAN; LEUKOENCEPHALOPATHY; PRIORITY JOURNAL; PROTEIN RNA BINDING; RNA TRANSLATION; STRESS; TRANSLATION INITIATION; VANISHING WHITE MATTER; WHITE MATTER;

BRAIN DISEASES; DNA MUTATIONAL ANALYSIS; EUKARYOTIC INITIATION FACTOR-2B; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; NERVE FIBERS, MYELINATED; PHENOTYPE; PROTEIN BIOSYNTHESIS;

EID: 0036156978     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10112     Document Type: Article

References (27)

1. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach
2. Diffuse white matter disease in three children: An encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy
3. A new leukoencephalopathy with vanishing white matter
4. Childhood ataxia with diffuse central nervous system hypomyelination
5. Fatal infantile leukodystrophy, a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27
6. Phenotypic variation in leukoencephalopathy with vanishing white matter
7. Adult onset leukoencephalopathy with vanishing white matter presenting with presenile dementia
8. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: Neuropathological and biochemical study of two cases
9. The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27
10. Subunits of the translation initiation factor eIF2B are mutated in leukoencephalopathy with vanishing white matter
11. Regulation of translation initiation factors by signal transduction
12. Initiation of protein synthesis in eukaryotic cells
13. met is an important translation initiation intermediate in vivo
14. Origins and principles of translational control
15. The pathway and mechanism of initiation of protein synthesis
16. Inactivation of eukaryotic initiation factor 2B in vitro by heat shock
17. Mammalian stress response: Cell physiology, structure/function of stress proteins, and implications for medicine and disease
18. Translational control during heat shock
19. The heat shock response reduces myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis in mice
20. Inactivation of eIF2B and phosphorylation of PHAS-1 in heat shocked rat hepatoma cells
21. Eukaryotic initiation factor 2B: Identification of multiple phosphorylation sites in the e-subunit and their functions in vivo
22. Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
23. Mechanism and regulation of initiator methionyl-tRNA binding to ribosomes
24. Translational control of GCN4: Gene-specific regulation by phosphorylation of eIF2
25. Molecular analysis of GCN3, a translational activator of GCN4: Evidence for posttranslational control of GCN3 regulatory function
26. The translational activator GCN3 functions downstream from GCN1 and GCN2 in the regulatory pathway that couples GCN4 expression to amino acid availability in Saccharomyces cerevisiae
27. Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome