Identification of novel L2HGDH gene mutations and update of the pathological spectrum-Reference-Cited by-同舟云学术

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

Published:2009-11-13 Issue:1 Volume:55 Page:55-58
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Vilarinho Laura,Tafulo Sandra,Sibilio Michelina,Kok Fernando,Fontana Federica,Diogo Luisa,Venâncio Margarida,Ferreira Mariana,Nogueira Celia,Valongo Carla,Parenti Giancarlo,Amorim António,Azevedo Luisa

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2009110.pdf

Reference16 articles.

1. Duran, M., Kamerling, J., Bakker, H., van Gennip, A. & Wadman, S. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J. Inherit. Metab. Dis. 3, 109–112 (1980).

2. Rzem, R., Veiga-da-Cunha, M., Noel, G., Goffette, S., Nassogne, M C., Tabarki, B. et al. A gene encoding a putative FAD-dependent l-2-hydroxyglutarate dehydrogenase is mutated in l-2-hydroxyglutaric aciduria. Proc. Natl. Acad. Sci. USA 101, 16849–16854 (2004).

3. Topçu, M., Jobard, F., Halliez, S., Coskun, T., Yalcinkayal, C., Gerceker, F. O. et al. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum. Mol. Genet. 13, 2803–2811 (2004).

4. Rzem, R., Van Schaftingen, E. & Veiga-da-Cunha, M. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie 88, 113–116 (2006).

5. Rzem, R., Vincent, M. F., Van Schaftingen, E. & Veiga-da-Cunha, M. L-2-Hydroxyglutaric aciduria, a defect of metabolite repair. J. Inherit. Metab. Dis. 30, 681–689 (2007).

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