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Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

Autor: Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Selma Kane, Céline Bris, David Goudenège, Valerie Desquiret-Dumas, Isabelle Meunier, Fanny Mochel, Luc Jeanjean, Fanny Varenne, Vincent Procaccio, Pascal Reynier, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers

Publikováno v: Genes; Volume 13; Issue 7; Pages: 1202

Dominant Optic Atrophy (DOA) is one of the most common inherited mitochondrial diseases, leading to blindness. It is caused by the chronic degeneration of the retinal ganglion cells (RGCs) and their axons forming the optic nerve. Until now, DOA has b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::569da1ad03a0a7123f17da6c7319f07b
https://doi.org/10.3390/genes13071202

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

Autor: Paweł Grzmil, Martin Hrabé de Angelis, Michael Klinkenberg, Heinz D. Osiewacz, Suzana Gispert, Sebastian Koob, Georg Auburger, Ulrich Brandt, Dirk H. Busch, Michael A. Walter, Marina Jendrach, Andreas S. Reichert, Thure Adler, Stefan Dröse, Ilka Wittig, Andreas Zell, Finja Büchel, Michel Mittelbronn, Andrea Hamann, Dajana Parganlija

Publikováno v: Human Molecular Genetics, 22, 24, pp. 4871-87
Europe PubMed Central
Human Molecular Genetics, 22, 4871-87
Human Molecular Genetics
Hum. Mol. Genet. 22, 4871-4887 (2013)

Contains fulltext : 125623.pdf (Publisher’s version ) (Closed access) The caseinolytic peptidase P (CLPP) is conserved from bacteria to humans. In the mitochondrial matrix, it multimerizes and forms a macromolecular proteasome-like cylinder togethe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aae6b27bcffda0dc96f248e269ad894
https://hdl.handle.net/2066/125623

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