Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients-Reference-Cited by-同舟云学术

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Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

Published:2004-06-25 Issue:7 Volume:12 Page:561-566
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Fogli Anne,Schiffmann Raphael,Hugendubler Lynne,Combes Patricia,Bertini Enrico,Rodriguez Diana,Kimball Scot R,Boespflug-Tanguy Odile

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201189.pdf

Reference21 articles.

1. Leegwater PA, Vermeulen G, Konst AA et al: Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001; 29: 383–388.

2. van der Knaap MS, Leegwater PA, Konst AA et al: Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002; 51: 264–270.

3. Schiffmann R, Moller JR, Trapp BD et al: Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994; 35: 331–340.

4. van der Knaap MS, Barth PG, Gabreels FJ et al: A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48: 845–855.

5. Rodriguez D, Gelot A, della Gaspera B et al: Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases. Acta Neuropathol 1999; 97: 469–480.

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