Prokisch H

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Name Prokisch Holger, PhD
Institution Institute of Human Genetics

Technischen Universität München

Klinikum Rechts der Isar, DE

Address Trogerstr. 32, 81675
City München
State/Province
Country Germany
Email [email protected]
Weblink
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Publications

 PublishedReference
Munoz-Pujol 2022 Brain Pathol2022Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F (2022) Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. https://doi.org/10.1111/bpa.13134
Friederich 2021 Mol Genet Metab2021Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK (2021) Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab 133:362-71.
Alston 2020 Am J Hum Genet2020Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW (2020) Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Am J Hum Genet 106:92-101.
Catania 2019 Orphanet J Rare Dis2019Catania A, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M (2019) Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls. Orphanet J Rare Dis 14:236. doi: 10.1186/s13023-019-1185-3
Alston 2018 Am J Hum Genet2018Alston 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.
Yepez 2018 PLOS One2018Yépez VA, Kremer LS, Iuso A, Gusic M, Kopajtich R, Koňaříková E, Nadel A, Wachutka L, Prokisch H, Gagneur J (2018) OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer. https://doi.org/10.1371/journal.pone.0199938
Feichtinger 2017 Am J Hum Genet2017Feichtinger 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.
Franko 2016 Diabetes2016Franko A, Huypens P, Neschen S, Irmler M, Rozman J, Rathkolb B, Neff F, Prehn C, Dubois G, Baumann M, Massinger R, Gradinger D, Przemeck GK, Repp B, Aichler M, Feuchtinger A, Schommers P, Stöhr O, Sanchez-Lasheras C, Adamski J, Peter A, Prokisch H, Beckers J, Walch AK, Fuchs H, Wolf E, Schubert M, Wiesner RJ, Hrabě de Angelis M (2016) Bezafibrate improves insulin sensitivity and metabolic flexibility in STZ-treated diabetic mice. Diabetes 65:2540-52.
Jackson 2014 J Med Genet2014Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautsch M, Häberli A, Gallati S, Schaller A (2014) Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial Complex II deficiency. J Med Genet 51:170-5.
Haack 2010 Nat Genet2010Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H (2010) Exome sequencing identifies ACAD9 mutations as a cause of Complex I deficiency. Nat Genet 42:1131-4.
Ahting 2009 Biochim Biophys Acta2009Ahting U, Floss T, Uez N, Schneider-Lohmar I, Becker L, Kling E, Iuso A, Bender A, de Angelis MH, Gailus-Durner V, Fuchs H, Meitinger T, Wurst W, Prokisch H, Klopstock T (2009) Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. Biochim Biophys Acta 1787:371-76.
Perocchi 2006 PLoS Genet2006Perocchi F, Jensen LJ, Gagneur J, Ahting U, von Mering C, Bork P, Prokisch H, Steinmetz LM (2006) Assessing systems properties of yeast mitochondria through an interaction map of the organelle. PLoS Genet 2:e170.

Abstracts

 PublishedReference
Holzerova 2015 Abstract MiP20152015Impairment of reactive oxygen species defense system affects oxidative phosphorylation and causes early-onset neurodegeneration.
Matakovic 2015 Abstract MiP20152015Cofactor deficiency in mitochondrial diseases.
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