The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
Abstract
Leukoencephalopathy with vanishing white matter is a recently defined autosomal recessive disorder. The course is chronic progressive with additional episodes of rapid deterioration, provoked by fever and minor head trauma. A previous study showed that mutations in the genes encoding the ε‐ or the β‐subunit of the eukaryotic translation initiation factor eIF2B, a complex consisting of five subunits, cause the disease in most patients. Seven unsolved patients remained. The unsolved patients were investigated by mutation analysis of the genes encoding the α‐, γ‐, and δ‐subunit of eIF2B and the gene encoding the α‐subunit of eIF2, because phosphorylation of this latter subunit regulates eIF2B activity. Mutations were found in the genes encoding the α‐ (1 patient), γ‐ (2 patients), and δ‐subunits (2 patients) of eIF2B, but no mutations were found in the gene encoding the α‐subunit of eIF2. In 2, both less typical patients, no mutations were found. Mutations in all five genes eIF2B subunit genes can cause VWM. eIF2B is essential for the initiation of translation of RNA into protein and is involved in regulation of the process, especially under circumstances of stress, such as fever. A defect in eIF2B may explain the sensitivity to stress factors in vanishing white matter patients.
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Cites
Welch, W. J. (1992) · Physiological Reviews · doi:10.1152/physrev.1992.72.4.1063 · Cited by 1,190
Translational control of gene expression
Hannig, E. M. (2001) · BioEssays · doi:10.1002/bies.1108 · Cited by 1,189
Initiation of Protein Synthesis in Eukaryotic Cells
Pain, V. M. (1996) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1996.00747.x · Cited by 707
(1991) · Journal of Cellular Biochemistry · doi:10.1002/jcb.240470805 · Cited by 431
Leegwater, P. A. J., Vermeulen, G., Könst, A. A. M., Naidu, S., Mulders, J., Visser, A., Kersbergen, P., Mobach, D., Fonds, D., van Berkel, C. G. M., et al. (2001) · Nature Genetics · doi:10.1038/ng764 · Cited by 414
Self-citationA new leukoencephalopathy with vanishing white matter
van der Knaap, M. S., Barth, P. G., Gabreëls, F. J. M., Franzoni, E., Begeer, J. H., Stroink, H., Rotteveel, J. J., & Valk, J. (1997) · Neurology · doi:10.1212/wnl.48.4.845 · Cited by 392
Self-citationAsano, K., Clayton, J., Shalev, A., & Hinnebusch, A. G. (2000) · Genes & Development · doi:10.1101/gad.831800 · Cited by 302
Childhood ataxia with diffuse central nervous system hypomyelination
Schiffmann, R., Moller, J. R., Trapp, B. D., Shih, H. H., Farrer, R. G., Katz, D. A., Alger, J. R., Parker, C. C., Hauer, P. E., Kaneski, C. R., et al. (1994) · Annals of Neurology · doi:10.1002/ana.410350314 · Cited by 261
Defining and Categorizing Leukoencephalopathies of Unknown Origin: MR Imaging Approach
van der Knaap, M. S., Breiter, S. N., Naidu, S., Hart, A. A. M., & Valk, J. (1999) · Radiology · doi:10.1148/radiology.213.1.r99se01121 · Cited by 241
Self-citationPhenotypic variation in leukoencephalopathy with vanishing white matter
van der Knaap, M. S., Kamphorst, W., Barth, P. G., Kraaijeveld, C. L., Gut, E., & Valk, J. (1998) · Neurology · doi:10.1212/wnl.51.2.540 · Cited by 196
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Hinnebusch, A. G. (2005) · Annual Review of Microbiology · doi:10.1146/annurev.micro.59.031805.133833 · Cited by 1,251
Myelination and support of axonal integrity by glia
Nave, K.-A. (2010) · Nature · doi:10.1038/nature09614 · Cited by 1,062
Myelin in the Central Nervous System: Structure, Function, and Pathology
Stadelmann, C., Timmler, S., Barrantes-Freer, A., & Simons, M. (2019) · Physiological Reviews · doi:10.1152/physrev.00031.2018 · Cited by 728
Prioritizing candidate disease genes by network-based boosting of genome-wide association data
Lee, I., Blom, U. M., Wang, P. I., Shim, J. E., & Marcotte, E. M. (2011) · Genome Research · doi:10.1101/gr.118992.110 · Cited by 686
Metadata
- Authors
- van der Knaap, M. S., Leegwater, P. A. J., Könst, A. A. M., Visser, A., Naidu, S., Oudejans, C. B. M., Schutgens, R. B. H., & Pronk, J. C.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2001-12-27
- Volume
- 51
- Issue
- 2
- Pages
- 264-270
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2065556020
- Cited by
- 381
- References
- 23
- FWCI
- 5.10
- Type
- journal article
- Language
- en
- Open access
- closed
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- van der Knaap, M. S., Leegwater, P. A. J., Könst, A. A. M., Visser, A., Naidu, S., Oudejans, C. B. M., Schutgens, R. B. H., & Pronk, J. C. (2002). Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Annals of Neurology. https://doi.org/10.1002/ana.10112
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