Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation

Autor: Christopher B. Jackson, Jean-Marc Nuoffer, Dagmar Hahn, Christof Schild, Barbara Rothen-Rutishauser, Jelena Mirkovitch, André Schaller

Publikováno v: Schild, Christof; Hahn, Dagmar Karen; Schaller, André; Jackson, Christopher; Rothen-Rutishauser, Barbara; Mirkovitch, Jelena; Nuoffer, Jean-Marc (2014). Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation. Amino acids, 46(7), pp. 1775-1783. Springer 10.1007/s00726-014-1730-2

Pentatricopeptide repeat domain protein 1 (PTCD1) is a novel human protein that was recently shown to decrease the levels of mitochondrial leucine tRNAs. The physiological role of this regulation, however, remains unclear. Here we show that amino aci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4f80249fc76cedafddefdf5e62191f6
http://doc.rero.ch/record/325621/files/726_2014_Article_1730.pdf

Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

Autor: Sébastien Jacquemont, Pierre-Yves Jeannet, Frederic Guerry, Diana Ballhausen, André Schaller, Luisa Bonafé, Jean-Marc Nuoffer, Dagmar Hahn

Publikováno v: Ballhausen, Diana; Guerry, Frédéric; Hahn, Dagmar; Schaller, André; Nuoffer, Jean-Marc; Bonafé, Luisa; Jeannet, Pierre-Yves; Jacquemont, Sebastien (2010). Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. Journal of inherited metabolic disease, 33 Suppl 3, S219-S226. Lancaster, UK: Springer
Journal of Inherited Metabolic Disease, vol. 33 Suppl 3, no. Suppl 3, pp. S219-S226

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G is associated with respiratory chain complex I deficiency and has been described as a rare cause of mostly adult-onset slowly progressive myopathy. Five families with 11 patients have been described s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c41769c51b7504bc0b0f6ceba5c5d1
http://doc.rero.ch/record/310391/files/10545_2010_Article_9098.pdf

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

Autor: Brendan J. Battersby, Jean-Marc Nuoffer, Thomas Schmitt-Mechelke, Paula Marttinen, Barbara Schroter, Uwe Richter, André Schaller, Dagmar Hahn, Christopher B. Jackson

Publikováno v: European journal of medical genetics. 60(6)

We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82f18267c77e48b65c80633c77dc78b
https://pubmed.ncbi.nlm.nih.gov/28412374

Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

Autor: Christopher B. Jackson, Dagmar Hahn, Sabina Gallati, Jean-Marc Nuoffer, Rohini Desetty, André Schaller, Louis Levinger

Publikováno v: Mitochondrion. 11:488-496

We report a sporadic case of chronic progressive external ophthalmoplegia associated with ragged red fibers. The patient presented with enlarged mitochondria with deranged internal architecture and crystalline inclusions. Biochemical studies showed r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed74762f242784b93ecaf1bc3df99486
https://doi.org/10.1016/j.mito.2011.01.005

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Autor: Georg F. Hoffmann, Charlotte L. Alston, André Schaller, Richard J. Rodenburg, Holger Prokisch, Yoshihito Kishita, Markus Schuelke, Sascha Sauer, Yasin Memari, Thomas Meitinger, Regina Trollmann, Urania Kotzaeridou, Kei Murayama, Wolfgang Sperl, Thomas Wieland, Stefan Kölker, Saikat Santra, Tobias B. Haack, Hartmut Engels, Gudrun Schottmann, Boriana Büchner, Yasushi Okazaki, Johannes A. Mayr, Masakazu Kohda, Christopher B. Jackson, Yoshimi Tokuzawa, Jean-Marc Nuoffer, Richard Durbin, Beate Albrecht, Peter Freisinger, Robert W. Taylor, Ramona Bolognini, Dagmar Hahn, Tim M. Strom, Dagmar Wieczorek, Oswald Hasselmann, Laura S. Kremer, Kirsten Cremer, Elisabeth Graf, Akira Ohtake, Maaike de Vries, Anja Kolb-Kokocinski, Alexander M. Zink, Thomas Klopstock, Seila Eggimann

Publikováno v: Annals of Clinical and Translational Neurology, 2, 492-509
Haack, Tobias B; Jackson, Christopher; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. Wiley 10.1002/acn3.189
Annals of Clinical and Translational Neurology 2(5), 492-509 (2015). doi:10.1002/acn3.189
Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2, 5, pp. 492-509

OBJECTIVE: Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe the broad phenotypic spectrum and pathobi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cbfd05fc6afc9c13c3832076ece9a9e
http://hdl.handle.net/2066/154949