Article
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
PLoS genetics - 25 Apr 2008
Peng Min, Falk Marni J, Haase Volker H, King Rhonda, Polyak Erzsebet, Selak Mary, Yudkoff Marc, Hancock Wayne W, Meade Ray, Saiki Ryoichi, Lunceford Adam L, Clarke Catherine F, Gasser David L
Abstract excerpt
Coenzyme Q (CoQ) is an essential electron carrier in the respiratory chain whose deficiency has been implicated in a wide variety of human mitochondrial disease manifestations. Its multi-step biosynthesis involves production of polyisoprenoid diphosphate in a reaction that requires the enzymes be encoded by PDSS1 and PDSS2. Homozygous mutations in either of these genes, in humans, lead to severe neuromuscular...
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