News and Views
Nature Genetics 40, 1148 - 1149 (2008)
doi:10.1038/ng1008-1148
Casting an eye on the Krebs cycle
Arnold Munnich1
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Arnold Munnich is at the Université Paris Descartes and Hôpital Necker-Enfants Malades, 75783, Paris 15, France.
e-mail: arnold.munnich@inserm.fr
Abstract
A new study identifies recessive, loss-of-function mutations in IDH3B, encoding a subunit of the NAD-specific isocitrate dehydrogenase, in individuals with retinitis pigmentosa. The lack of any obvious clinical signs in other tissues in these individuals forces a reassessment of the physiological role of this enzyme outside of the retina.
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