Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain

Gene

Volumn 512, Issue 2, 2013, Pages 450-452

  Sunker, Asma ^a   Alkuraya, Fowzan S ^a,b,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

EIF2B related; Leukodystrophy; Leukoencephalopathy; MRI1; Spongiform; Vacuoles

Indexed keywords

INITIATION FACTOR; INITIATION FACTOR 2B ALPHA BETA DELTA LIKE PROTEIN 2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; EPILEPSY; EXOME; FEMALE; GENE LOCUS; GENETIC VARIABILITY; HUMAN; LEUKODYSTROPHY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VANISHING WHITE MATTER DISEASE;

ADULT; ALDOSE-KETOSE ISOMERASES; ARABS; EPILEPSIES, MYOCLONIC; FEMALE; GENETIC LOCI; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INFANT; INFANT, NEWBORN; LEUKOENCEPHALOPATHIES; MALE;

EID: 84870347057     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.063     Document Type: Article

References (11)

1. Aldahmesh M.A., Khan A.O., Mohamed J., Alkuraya F.S. Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet. Med. 2011, 13:978-981.
2. Bugiani M., Boor I., Powers J.M., Scheper G.C., van der Knaap M.S. Leukoencephalopathy with vanishing white matter: a review. J. Neuropathol. Exp. Neurol. 2010, 69:987-996.
3. Bumann M., et al. Crystal structure of yeast Ypr118w, a methylthioribose-1-phosphate isomerase related to regulatory eIF2B subunits. J. Biol. Chem. 2004, 279:37087-37094.
4. Kabuyama Y., et al. A mediator of Rho-dependent invasion moonlights as a methionine salvage enzyme. Mol. Cell. Proteomics 2009, 8:2308-2320.
5. Labauge P., et al. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain 2009, 132:2161-2169.
6. Liu A.R., et al. Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. Hum. Mutat. 2011, 2011 May 10. http://dx.doi.org/10.1002/humu.21535. [Epub ahead of print].
7. Maletkovic J., et al. Genetic and clinical heterogeneity in eIF2B-related disorder. J. Child Neurol. 2008, 23:205-215.
8. Marintchev A., Wagner G. Translation initiation: structures, mechanisms and evolution. Q. Rev. Biophys. 2004, 37:197-284.
9. Shaheen R., et al. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am. J. Hum. Genet. 2011, 89:328-333.
10. van der Knaap M.S., et al. eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am. J. Hum. Genet. 2003, 73:1199-1207.
11. Wang X., et al. Eukaryotic initiation factor 2B: identification of multiple phosphorylation sites in the epsilon-subunit and their functions in vivo. EMBO J. 2001, 20:4349-4359.