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Items: 33

1.

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM.

J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17.

PMID:
30120216
2.

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.

Yépez VA, Kremer LS, Iuso A, Gusic M, Kopajtich R, Koňaříková E, Nadel A, Wachutka L, Prokisch H, Gagneur J.

PLoS One. 2018 Jul 11;13(7):e0199938. doi: 10.1371/journal.pone.0199938. eCollection 2018.

3.

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.

Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, Terrile C, Prokisch H, Strom TM, Hoffmann GF, Meitinger T, Haack TB.

JIMD Rep. 2019;44:1-7. doi: 10.1007/8904_2018_115. Epub 2018 Jun 20.

4.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y.

Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10.

5.

Cholesterol regulates polymodal sensory transduction in Müller glia.

Lakk M, Yarishkin O, Baumann JM, Iuso A, Križaj D.

Glia. 2017 Dec;65(12):2038-2050. doi: 10.1002/glia.23213. Epub 2017 Aug 30.

6.

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A, Vitale A, Garavaglia B, Iuso A, Bagella CF, Pappatà S, Barone P, Prokisch H, Romito L, Tiranti V.

Neurogenetics. 2017 Jul;18(3):175-178. doi: 10.1007/s10048-017-0518-4. Epub 2017 Jun 29.

PMID:
28664294
7.

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H.

Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.

8.

Endoplasmic reticulum (ER) Ca2+-channel activity contributes to ER stress and cone death in cyclic nucleotide-gated channel deficiency.

Butler MR, Ma H, Yang F, Belcher J, Le YZ, Mikoshiba K, Biel M, Michalakis S, Iuso A, Križaj D, Ding XQ.

J Biol Chem. 2017 Jul 7;292(27):11189-11205. doi: 10.1074/jbc.M117.782326. Epub 2017 May 11.

9.

Assessing Mitochondrial Bioenergetics in Isolated Mitochondria from Various Mouse Tissues Using Seahorse XF96 Analyzer.

Iuso A, Repp B, Biagosch C, Terrile C, Prokisch H.

Methods Mol Biol. 2017;1567:217-230. doi: 10.1007/978-1-4939-6824-4_13.

PMID:
28276021
10.

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.

Mitochondrion. 2017 Sep;36:15-20. doi: 10.1016/j.mito.2016.10.002. Epub 2016 Oct 6.

PMID:
27721048
11.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T.

Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

12.

TRPV4 regulates calcium homeostasis, cytoskeletal remodeling, conventional outflow and intraocular pressure in the mammalian eye.

Ryskamp DA, Frye AM, Phuong TT, Yarishkin O, Jo AO, Xu Y, Lakk M, Iuso A, Redmon SN, Ambati B, Hageman G, Prestwich GD, Torrejon KY, Križaj D.

Sci Rep. 2016 Aug 11;6:30583. doi: 10.1038/srep30583.

13.

Store-Operated Calcium Entry in Müller Glia Is Controlled by Synergistic Activation of TRPC and Orai Channels.

Molnár T, Yarishkin O, Iuso A, Barabas P, Jones B, Marc RE, Phuong TT, Križaj D.

J Neurosci. 2016 Mar 16;36(11):3184-98. doi: 10.1523/JNEUROSCI.4069-15.2016.

14.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB.

Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21.

15.

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Koch J, Feichtinger RG, Freisinger P, Pies M, Schrödl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB.

J Med Genet. 2016 Apr;53(4):270-8. doi: 10.1136/jmedgenet-2015-103500. Epub 2016 Jan 18.

PMID:
26783368
16.

TRPV4-AQP4 interactions 'turbocharge' astroglial sensitivity to small osmotic gradients.

Iuso A, Križaj D.

Channels (Austin). 2016;10(3):172-4. doi: 10.1080/19336950.2016.1140956. Epub 2016 Jan 13. No abstract available.

17.

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

Venco P, Bonora M, Giorgi C, Papaleo E, Iuso A, Prokisch H, Pinton P, Tiranti V.

Front Genet. 2015 May 19;6:185. doi: 10.3389/fgene.2015.00185. eCollection 2015.

18.

TRPV4 links inflammatory signaling and neuroglial swelling.

Ryskamp DA, Iuso A, Križaj D.

Channels (Austin). 2015;9(2):70-2. doi: 10.1080/19336950.2015.1017998. No abstract available.

19.

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.

Iuso A, Sibon OC, Gorza M, Heim K, Organisti C, Meitinger T, Prokisch H.

PLoS One. 2014 Feb 21;9(2):e89439. doi: 10.1371/journal.pone.0089439. eCollection 2014.

20.

Moderate prenatal alcohol exposure reduces plasticity and alters NMDA receptor subunit composition in the dentate gyrus.

Brady ML, Diaz MR, Iuso A, Everett JC, Valenzuela CF, Caldwell KK.

J Neurosci. 2013 Jan 16;33(3):1062-7. doi: 10.1523/JNEUROSCI.1217-12.2013.

21.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.

22.

Induction of mitochondrial dysfunction and oxidative stress in human fibroblast cultures exposed to serum from septic patients.

Trentadue R, Fiore F, Massaro F, Papa F, Iuso A, Scacco S, Santacroce L, Brienza N.

Life Sci. 2012 Sep 17;91(7-8):237-43. doi: 10.1016/j.lfs.2012.06.041. Epub 2012 Jul 20. Erratum in: Life Sci. 2013 May 2;92(14-16):873. Raffaella, Trentadue [corrected to Trentadue, Raffaella]; Fabrizia, Massaro [corrected to Massaro, Fabrizia]; Francesco, Papa [corrected to Papa, Francesco]; Arcangela, Iuso [corrected to Iuso, Arcangela]; Salvatore, Scacco [corrected to Scacco, Salvatore].

PMID:
22820545
23.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H.

J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846.

PMID:
22499348
24.

Effect of low-level laser irradiation on osteoblast proliferation and bone formation.

Grassi FR, Ciccolella F, D'Apolito G, Papa F, Iuso A, Salzo AE, Trentadue R, Nardi GM, Scivetti M, De Matteo M, Silvestris F, Ballini A, Inchingolo F, Dipalma G, Scacco S, Tetè S.

J Biol Regul Homeost Agents. 2011 Oct-Dec;25(4):603-14. Erratum in: J Biol Regul Homeost Agents. 2012 Jan-Mar;26(1):3 p following 163. Dipalma, M [corrected to Dipalma, G].

PMID:
22217992
25.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H.

J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26.

PMID:
22200994
26.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H.

Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

27.

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.

Danhauser K, Iuso A, Haack TB, Freisinger P, Brockmann K, Mayr JA, Meitinger T, Prokisch H.

Mol Genet Metab. 2011 Jun;103(2):161-6. doi: 10.1016/j.ymgme.2011.03.004. Epub 2011 Mar 11.

PMID:
21458341
28.

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

Haack 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.

Nat Genet. 2010 Dec;42(12):1131-4. doi: 10.1038/ng.706. Epub 2010 Nov 7.

PMID:
21057504
29.

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.

Papa S, Petruzzella V, Scacco S, Sardanelli AM, Iuso A, Panelli D, Vitale R, Trentadue R, De Rasmo D, Capitanio N, Piccoli C, Papa F, Scivetti M, Bertini E, Rizza T, De Michele G.

Biochim Biophys Acta. 2009 May;1787(5):502-17. doi: 10.1016/j.bbabio.2008.12.018. Epub 2009 Jan 10. Review.

30.

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.

Ahting 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.

Biochim Biophys Acta. 2009 May;1787(5):371-6. doi: 10.1016/j.bbabio.2008.12.001. Epub 2008 Dec 9.

31.

Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation.

Piccoli C, Sardanelli A, Scrima R, Ripoli M, Quarato G, D'Aprile A, Bellomo F, Scacco S, De Michele G, Filla A, Iuso A, Boffoli D, Capitanio N, Papa S.

Neurochem Res. 2008 Dec;33(12):2565-74. doi: 10.1007/s11064-008-9729-2. Epub 2008 May 13.

PMID:
18473170
32.

cAMP controls oxygen metabolism in mammalian cells.

Piccoli C, Scacco S, Bellomo F, Signorile A, Iuso A, Boffoli D, Scrima R, Capitanio N, Papa S.

FEBS Lett. 2006 Aug 7;580(18):4539-43. Epub 2006 Jul 7.

33.

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.

Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M, Papa S.

J Biol Chem. 2006 Apr 14;281(15):10374-80. Epub 2006 Feb 13.

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