Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of mitochondrial membrane protein MTX2 causes a progeroid MAD sharing clinical features with lamin-associated progeroid syndromes.
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2020
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oai:doaj.org-article:21379d0d1eab48b298abdd7e9cc58e7d2021-12-02T19:13:48ZLoss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology10.1038/s41467-020-18146-92041-1723https://doaj.org/article/21379d0d1eab48b298abdd7e9cc58e7d2020-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-18146-9https://doaj.org/toc/2041-1723Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of mitochondrial membrane protein MTX2 causes a progeroid MAD sharing clinical features with lamin-associated progeroid syndromes.Sahar ElouejKarim HarhouriMorgane Le MaoGenevieve BaujatSheela NampoothiriHϋlya KayseriliNihal Al MenabawyLaila SelimArianne Llamos PanequeChristian KubischDavor LesselRobert RubinsztajnChayki ChararCatherine BartoliCoraline AiraultJean-François DeleuzeAgnes RötigPeter BauerCatarina PereiraAbigail LohNathalie Escande-BeillardAntoine MuchirLisa MartinoYosef GruenbaumSong-Hua LeePhilippe ManivetGuy LenaersBruno ReversadeNicolas LévyAnnachiara De Sandre-GiovannoliNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-15 (2020) |
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Science Q Sahar Elouej Karim Harhouri Morgane Le Mao Genevieve Baujat Sheela Nampoothiri Hϋlya Kayserili Nihal Al Menabawy Laila Selim Arianne Llamos Paneque Christian Kubisch Davor Lessel Robert Rubinsztajn Chayki Charar Catherine Bartoli Coraline Airault Jean-François Deleuze Agnes Rötig Peter Bauer Catarina Pereira Abigail Loh Nathalie Escande-Beillard Antoine Muchir Lisa Martino Yosef Gruenbaum Song-Hua Lee Philippe Manivet Guy Lenaers Bruno Reversade Nicolas Lévy Annachiara De Sandre-Giovannoli Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology |
| description |
Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of mitochondrial membrane protein MTX2 causes a progeroid MAD sharing clinical features with lamin-associated progeroid syndromes. |
| format |
article |
| author |
Sahar Elouej Karim Harhouri Morgane Le Mao Genevieve Baujat Sheela Nampoothiri Hϋlya Kayserili Nihal Al Menabawy Laila Selim Arianne Llamos Paneque Christian Kubisch Davor Lessel Robert Rubinsztajn Chayki Charar Catherine Bartoli Coraline Airault Jean-François Deleuze Agnes Rötig Peter Bauer Catarina Pereira Abigail Loh Nathalie Escande-Beillard Antoine Muchir Lisa Martino Yosef Gruenbaum Song-Hua Lee Philippe Manivet Guy Lenaers Bruno Reversade Nicolas Lévy Annachiara De Sandre-Giovannoli |
| author_facet |
Sahar Elouej Karim Harhouri Morgane Le Mao Genevieve Baujat Sheela Nampoothiri Hϋlya Kayserili Nihal Al Menabawy Laila Selim Arianne Llamos Paneque Christian Kubisch Davor Lessel Robert Rubinsztajn Chayki Charar Catherine Bartoli Coraline Airault Jean-François Deleuze Agnes Rötig Peter Bauer Catarina Pereira Abigail Loh Nathalie Escande-Beillard Antoine Muchir Lisa Martino Yosef Gruenbaum Song-Hua Lee Philippe Manivet Guy Lenaers Bruno Reversade Nicolas Lévy Annachiara De Sandre-Giovannoli |
| author_sort |
Sahar Elouej |
| title |
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology |
| title_short |
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology |
| title_full |
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology |
| title_fullStr |
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology |
| title_full_unstemmed |
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology |
| title_sort |
loss of mtx2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/21379d0d1eab48b298abdd7e9cc58e7d |
| work_keys_str_mv |
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