Validation of metaxin-2 deficient C. elegans as a model for MandibuloAcral Dysplasia associated to mtx-2 (MADaM) syndrome

Autor: Chloé Talarmin-Gas, Georges Smolyakov, Cleo Parisi, Cyril Scandola, Valérie Andrianasolonirina, Cloé Lecoq, Valentine Houtart, Song-Hua Lee, Homa Adle-Biassette, Bénédicte Thiébot, Timothy Ganderton, Philippe Manivet

Publikováno v: Communications Biology, Vol 7, Iss 1, Pp 1-15 (2024)

Abstract MandibuloAcral Dysplasia associated to MTX2 gene (MADaM) is a recently described progeroid syndrome (accelerated aging disease) whose clinical manifestations include skin abnormalities, growth retardation, and cardiovascular diseases. We pre

Externí odkaz: https://doaj.org/article/1dbb1081659043f4b03a5d849a79099d

Modulatory upregulation of an insulin peptide gene by different pathogens in C. elegans

Autor: Song-Hua Lee, Shizue Omi, Nishant Thakur, Clara Taffoni, Jérôme Belougne, Ilka Engelmann, Jonathan J. Ewbank, Nathalie Pujol

Publikováno v: Virulence, Vol 9, Iss 1, Pp 648-658 (2018)

When an animal is infected, its innate immune response needs to be tightly regulated across tissues and coordinated with other aspects of organismal physiology. Previous studies with Caenorhabditis elegans have demonstrated that insulin-like peptide

Externí odkaz: https://doaj.org/article/c76653212ad2411786c1e929c78e28aa

Complete killing of Caenorhabditis elegans by Burkholderia pseudomallei is dependent on prolonged direct association with the viable pathogen.

Autor: Song-Hua Lee, Soon-Keat Ooi, Nor Muhammad Mahadi, Man-Wah Tan, Sheila Nathan

Publikováno v: PLoS ONE, Vol 6, Iss 3, p e16707 (2011)

BACKGROUND: Burkholderia pseudomallei is the causative agent of melioidosis, a disease of significant morbidity and mortality in both human and animals in endemic areas. Much remains to be known about the contributions of genotypic variations within

Externí odkaz: https://doaj.org/article/bfc7febda7cd4ced835a333dd627611c

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Autor: Christian Kubisch, Robert Rubinsztajn, Arianne Llamos Paneque, Philippe Manivet, Catarina Pereira, Laila Selim, Nathalie Escande-Beillard, Abigail Loh, Peter Bauer, Catherine Bartoli, Song-Hua Lee, Morgane Le Mao, Hϋlya Kayserili, Coraline Airault, Nihal M. Al Menabawy, Lisa Martino, Yosef Gruenbaum, Guy Lenaers, Antoine Muchir, Agnès Rötig, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Sahar Elouej, Sheela Nampoothiri, Chayki Charar, Jean-François Deleuze, Karim Harhouri, Bruno Reversade, Davor Lessel, Geneviève Baujat

Publikováno v: Nature communications, 11(1):4589. Nature Publishing Group
Nature Communications
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩

Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitoch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06373a33d6f632cebef13745fddc34b8
https://pure.amc.nl/en/publications/loss-of-mtx2-causes-mandibuloacral-dysplasia-and-links-mitochondrial-dysfunction-to-altered-nuclear-morphology(60508de2-5a6c-49eb-9d5b-9742fc986ced).html

Modulatory upregulation of an insulin peptide gene by different pathogens in C. elegans

Autor: Shizue Omi, Nishant Thakur, Ilka Engelmann, Jonathan J. Ewbank, Jérôme Belougne, Nathalie Pujol, Song Hua Lee, Clara Taffoni

Publikováno v: Virulence
Virulence, Taylor & Francis, 2018, 9 (1), pp.648-658. ⟨10.1080/21505594.2018.1433969⟩
Virulence, Vol 9, Iss 1, Pp 648-658 (2018)
Virulence, 2018, 9 (1), pp.648-658. ⟨10.1080/21505594.2018.1433969⟩

When an animal is infected, its innate immune response needs to be tightly regulated across tissues and coordinated with other aspects of organismal physiology. Previous studies with Caenorhabditis elegans have demonstrated that insulin-like peptide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3d7643866c34ae040cc02f505da82dc
https://hal.archives-ouvertes.fr/hal-02108832/file/kvir-09-01-1433969.pdf