Genomes and Genes
Johannes A Mayr
Affiliation: Paracelsus Private Medical University
- Mayr J, Freisinger P, Schlachter K, Rolinski B, Zimmermann F, Scheffner T, et al. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am J Hum Genet. 2011;89:806-12 pubmed publisher..A reduced concentration of TPP was found in the muscle and blood. Mutation analysis of TPK1 uncovered three missense, one splice-site, and one frameshift mutation resulting in decreased TPK protein levels. ..
- Mayr J, Merkel O, Kohlwein S, Gebhardt B, Böhles H, Fötschl U, et al. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007;80:478-84 pubmed..The enzyme defect was confirmed by complementation analysis in yeast. This is the first report of patients with mitochondrial phosphate-carrier deficiency. ..
- Mayr J, Bodamer O, Haack T, Zimmermann F, Madignier F, Prokisch H, et al. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol Genet Metab. 2011;103:358-61 pubmed publisher..Investigation of the X-inactivation pattern demonstrated that 74% of the paternally inherited allele was active in the muscle. This is the first report of an X-chromosomally inherited respiratory chain defect in a heterozygous female. ..
- Koch J, Freisinger P, Feichtinger R, Zimmermann F, Rauscher C, Wagentristl H, et al. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. Orphanet J Rare Dis. 2015;10:40 pubmed publisher..However, TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder. Normal MRC complex III activity does not exclude the diagnosis. ..
- Kennedy H, Haack T, Hartill V, Mataković L, Baumgartner E, Potter H, et al. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. Am J Hum Genet. 2016;99:674-682 pubmed publisher..These findings confirm the pathogenicity of PPA2 mutations and suggest that PPA2 is a cardiomyopathy-associated protein, which has a greater physiological importance in mitochondrial function than previously recognized. ..
- Habarou F, Hamel Y, Haack T, Feichtinger R, Lebigot E, Marquardt I, et al. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. Am J Hum Genet. 2017;101:283-290 pubmed publisher..Lipoic acid supplementation did not improve clinical condition nor activities of PDHc, ?-KGDHc, or leucine metabolism in fibroblasts and was ineffective in yeast deleted for the orthologous LIP2. ..