Mayr JA

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COST Action CA15203 (2016-2021): MitoEAGLE
Evolution-Age-Gender-Lifestyle-Environment: mitochondrial fitness mapping

Mayr JA

MitoPedia topics: EAGLE

COST: Member

COST WG2: WG2 COST WG3: WG3

Name	Mayr Johannes, Dr.
Institution	Department of Pediatrics Paracelsus Medical University
Address	Müllner Hauptstraße 48, 5020
City	Salzburg
State/Province
Country	Austria
Email	[email protected]
Weblink	http://www.mito-center.org/ http://www.salk.at/
O2k-Network Lab	AT Salzburg Sperl W

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Publications

	Published	Reference
Inak 2021 Nat Commun	2021	Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A (2021) Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nat Commun 12:1929.
Alston 2018 Am J Hum Genet	2018	Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW (2018) Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am J Hum Genet 103:592-601.
Feichtinger 2017 Am J Hum Genet	2017	Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H (2017) Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies. Am J Hum Genet 101:525-38.
Mueller 2012 PLoS One	2012	Mueller EE, Brunner SM, Mayr JA, Stanger O, Sperl W, Kofler B (2012) Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells. PLoS One 7:e52367.
Cizkova 2008 Nat Genet	2008	Cızkova A, Stranecky V, Mayr JA, Tesarova M, Havlıckova V, Paul J, Ivanek R, Kuss AW, Hansıkova H, Kaplanova W, Vrbacky M, Hartmannova H, Noskova L, Honzık T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40:1288-90.
Gellerich 2004 Mitochondrion	2004	Gellerich FN, Mayr JA, Reuter S, Sperl W, Zierz S (2004) The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. Mitochondrion 4:427-39.
Mayr 2004 Pediatr Res	2004	Mayr JA, Paul J, Pecina P, Kurnik P, Forster H, Fotschl U, Sperl W, Houstek J (2004) Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. Pediatr Res 55:988-94.

Abstracts

	Published	Reference
Iyer 2017b MiPschool Obergurgl	2017	Patient-specific stem cell models for mitochondrial diseases.

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