Journal article: Nature Genetics

Molecular-genetic basis of severe inherited mitochondrial disease – neonatal encephalo-cardiomyopathy.

Studies on pathogenic mechanism of novel mitochondrial disorder resulted in identification of disease causing mutation in the TMEM70 gene which encodes a new type of ancillary factor essential for biogenesis of ATP synthase that is unique for higher eukaryotes. Results of collaborative studies performed at the Institute of Physiology ASCR, Institute of Inherited Metabolic Disorders and Pediatric Department of the 1st Medical Faculty CU were published in Nature Genetics.
Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S.: TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat. Genet. 2008, 40, 1288-1290 IF= 25.55

Author: houstekbiomed.cas.cz
 

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