Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes

Autor: Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar‐Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada‐Wack, Nirav F Chhabra, Yi‐Li Cho, Patricia da Silva‐Buttkus, René G Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine M Hölter, Elisabeth Jameson, Tanja Klein‐Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer‐Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes A Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valerie Gailus‐Durner, Martin Hrabě de Angelis

Publikováno v: EMBO Molecular Medicine, Vol 13, Iss 12, Pp 1-19 (2021)

Abstract Mitochondrial disorders are clinically and genetically diverse, with isolated complex III (CIII) deficiency being relatively rare. Here, we describe two affected cousins, presenting with recurrent episodes of severe lactic acidosis, hyperamm

Externí odkaz: https://doaj.org/article/341f02162d414b2e9fd51d3fc242e6ba

Knockout mouse models as a resource for the study of rare diseases

Autor: Patricia da Silva-Buttkus, Nadine Spielmann, Tanja Klein-Rodewald, Christine Schütt, Antonio Aguilar-Pimentel, Oana V. Amarie, Lore Becker, Julia Calzada-Wack, Lillian Garrett, Raffaele Gerlini, Markus Kraiger, Stefanie Leuchtenberger, Manuela A. Östereicher, Birgit Rathkolb, Adrián Sanz-Moreno, Claudia Stöger, Sabine M. Hölter, Claudia Seisenberger, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabě de Angelis

Publikováno v: Mammalian Genome.

Rare diseases (RDs) are a challenge for medicine due to their heterogeneous clinical manifestations and low prevalence. There is a lack of specific treatments and only a few hundred of the approximately 7,000 RDs have an approved regime. Rapid techno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::08755c94d49211754365171f82595ed9
https://doi.org/10.1007/s00335-023-09986-z

Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction

Autor: Nadine Spielmann, Christina Schenkl, Tímea Komlódi, Patricia da Silva-Buttkus, Estelle Heyne, Jana Rohde, Oana V. Amarie, Birgit Rathkolb, Erich Gnaiger, Torsten Doenst, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabě de Angelis, Marten Szibor

Publikováno v: Mamm. Genome, DOI: 10.1007/s00335-022-09973-w (2022)

Ubiquinol cytochrome c reductase hinge protein (UQCRH) is required for the electron transfer between cytochrome c1 and c of the mitochondrial cytochrome bc1 Complex (CIII). A two-exon deletion in the human UQCRH gene has recently been identified as t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd1a539e442f994b2641acb20c6aa0f
https://doi.org/10.1007/s00335-022-09973-w

Characterising a homozygous two‐exon deletion in UQCRH : comparing human and mouse phenotypes

Autor: Elisabeth Jameson, Johannes A. Mayr, Manuela A. Oestereicher, John H. Walter, Juan Antonio Aguilar-Pimentel, Wolfgang Wurst, William G. Newman, Stefanie Leuchtenberger, Patricia da Silva-Buttkus, Jill E. Urquhart, Helmut Fuchs, Ilka Wittig, Robert W. Taylor, Silvia Vidali, René G. Feichtinger, Jana Meisterknecht, Martin Hrabě de Angelis, Lore Becker, Philipp Mayer-Kuckuk, Kai P. Hoefig, Yi-Li Cho, Catherine Breen, Nadine Spielmann, Marten Szibor, Raffaele Gerlini, Irina Treise, Lillian Garrett, Nirav Florian Chhabra, Oana V. Amarie, Kyle Thompson, Charlotte Sanders, Susan Marschall, Jan Rozman, Holger Prokisch, Kristine Gampe, Birgit Rathkolb, Sabine M. Hölter, Kristina Pfannes, Gregor Miller, Tanja Klein-Rodewald, Valerie Gailus-Durner, Julia Calzada-Wack, Ulrich Gärtner, Claudia Stoeger

Publikováno v: EMBO Molecular Medicine
Newman, W, Urquhart, J, Breen, C, Walter, J & Jameson, E 2021, ' Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes ', EMBO Molecular Medicine, vol. 13, no. 12, e14397 . https://doi.org/10.15252/emmm.202114397
EMBO Mol. Med.:e14397 (2021)
EMBO molecular medicine 13(12), e14397 (2021). doi:10.15252/emmm.202114397
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)

Mitochondrial disorders are clinically and genetically diverse, with isolated complex III (CIII) deficiency being relatively rare. Here, we describe two affected cousins, presenting with recurrent episodes of severe lactic acidosis, hyperammonaemia,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54043c9e401c3918feb0aba8928fcbc2
https://doi.org/10.15252/emmm.202114397

PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance

Autor: Daniel Gradinger, Oana V. Amarie, Marina Rubey, Johannes Beckers, Jan Rozman, Anna-Lena Amend, Gerhard K. H. Przemeck, Moya Wu, Birgit Rathkolb, Raffaele Teperino, Annette Feuchtinger, Peter Huypens, Martin Hrabě de Angelis, Martin Irmler, Nirav Florian Chhabra, Eckhard Wolf

Publikováno v: Communications Biology, Vol 3, Iss 1, Pp 1-14 (2020)
Comm. Biol. 3:628 (2020)
Communications Biology

The transcription factor PAX6 is involved in the development of the eye and pancreatic islets, besides being associated with sleep–wake cycles. Here, we investigated a point mutation in the RED subdomain of PAX6, previously described in a human pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b29afe64ec8758c29810e886fd3e7fea
https://doi.org/10.1038/s42003-020-01337-x