Genetic Conditions > leukoencephalopathy with vanishing white matter >

References

These sources were used to develop the Genetics Home Reference condition summary on leukoencephalopathy with vanishing white matter.

Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Pröschel M, Noble M, Torres C, Pröschel C. EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat Med. 2005 Mar;11(3):277-83. Epub 2005 Feb 20. PubMed citation
Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B-related diseases. Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. Review. PubMed citation
Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur J Hum Genet. 2004 Jul;12(7):561-6. PubMed citation
Gene Review: Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Li W, Wang X, Van Der Knaap MS, Proud CG. Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. Mol Cell Biol. 2004 Apr;24(8):3295-306. PubMed citation
OMIM: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
Pavitt GD. eIF2B, a mediator of general and gene-specific translational control. Biochem Soc Trans. 2005 Dec;33(Pt 6):1487-92. Review. PubMed citation
Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS. Vanishing white matter disease: a review with focus on its genetics. Ment Retard Dev Disabil Res Rev. 2006;12(2):123-8. Review. PubMed citation
Scali O, Di Perri C, Federico A. The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci. 2006 Sep;27(4):271-7. Review. PubMed citation
Scheper GC, Proud CG, van der Knaap MS. Defective translation initiation causes vanishing of cerebral white matter. Trends Mol Med. 2006 Apr;12(4):159-66. Epub 2006 Mar 20. Review. PubMed citation
Schiffmann R, Elroy-Stein O. Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. Mol Genet Metab. 2006 May;88(1):7-15. Epub 2006 Jan 18. Review. PubMed citation
Schiffmann R, Moller JR, Trapp BD, Shih HH, Farrer RG, Katz DA, Alger JR, Parker CC, Hauer PE, Kaneski CR, et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol. 1994 Mar;35(3):331-40. PubMed citation
van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS. The unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol. 2005 Sep;64(9):770-5. PubMed citation
van Kollenburg B, van Dijk J, Garbern J, Thomas AA, Scheper GC, Powers JM, van der Knaap MS. Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol. 2006 Jul;65(7):707-15. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources