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

Autor: Elouej S; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Harhouri K; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Le Mao M; MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France., Baujat G; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO Cochin, Kerala, India., Kayserili H; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Menabawy NA; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt., Selim L; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt., Paneque AL; Medical Genetics Service Specialties Hospital FF AA No.1, Quito, Ecuador., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Rubinsztajn R; Pole of Anesthesiology and Reanimation, Necker Enfants Malades Hospital, Paris, France., Charar C; Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel., Bartoli C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Airault C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH) and Centre d'Etude du Polymorphisme Humain (CEPH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay and Fondation Jean Dausset, Paris, France., Rötig A; INSERM UMR1163, Institut Imagine, Paris, France., Bauer P; CENTOGENE AG, Rostock, Germany., Pereira C; CENTOGENE AG, Rostock, Germany., Loh A; Institute of Medical Biology, A*STAR, Singapore, Singapore., Escande-Beillard N; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Institute of Medical Biology, A*STAR, Singapore, Singapore., Muchir A; Sorbonne Université, INSERM, Institute of Myology, Center of Research in Myology, Paris, France., Martino L; CeleScreen SAS, Paris, France., Gruenbaum Y; Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel., Lee SH; CeleScreen SAS, Paris, France., Manivet P; CeleScreen SAS, Paris, France.; APHP, Biobank Lariboisière BB-0033-00064, Platform of BioPathology and Innovative Technologies in Health, Hôpital Lariboisière, Paris, France.; INSERM UMR1141 « NeuroDiderot », Université de Paris, Paris, France., Lenaers G; MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France., Reversade B; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Institute of Medical Biology, A*STAR, Singapore, Singapore., Lévy N; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France., De Sandre-Giovannoli A; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.; Biological Resource Center (CRB-TAC), Assistance Publique Hôpitaux de Marseille, La Timone Children's Hospital, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.

Publikováno v: Nature communications [Nat Commun] 2020 Sep 11; Vol. 11 (1), pp. 4589. Date of Electronic Publication: 2020 Sep 11.

Angiopoietin-2: A Therapeutic Target for Vascular Protection in Hutchinson–Gilford Progeria Syndrome.

Autor: Vakili, Sahar¹ (AUTHOR) saharv@umd.edu, Cao, Kan¹ (AUTHOR) kcao@umd.edu

Publikováno v: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 24, p13537. 19p.

Neglected Issues in T Lymphocyte Metabolism: Purine Metabolism and Control of Nuclear Envelope Regulatory Processes. New Insights into Triggering Potential Metabolic Fragilities.

Autor: Torchia, Naomi^1,2 (AUTHOR) naomi.torchia@studenti.unicz.it, Brescia, Carolina^1,2,3 (AUTHOR) brescia@unicz.it, Chiarella, Emanuela⁴ (AUTHOR) emanuelachiarella@unicz.it, Audia, Salvatore^1,2 (AUTHOR) salvatore.audia001@studenti.unicz.it, Trapasso, Francesco^3,4 (AUTHOR) trapasso@unicz.it, Amato, Rosario^1,2,3 (AUTHOR) trapasso@unicz.it

Publikováno v: Immuno. Dec2024, Vol. 4 Issue 4, p521-548. 28p.

Nuclear functions regulated by the VRK1 kinase.

Autor: Lazo, Pedro A.^1,2 (AUTHOR) pedro.lazo@csic.es

Publikováno v: Nucleus (1949-1034). Dec2024, Vol. 15 Issue 1, p1-18. 18p.

Developmental changes in nuclear lamina components during germ cell differentiation.

Autor: Perales, Isabella E.¹ (AUTHOR), Jones, Samuel D.¹ (AUTHOR), Piaszynski, Katherine M.¹ (AUTHOR), Geyer, Pamela K.¹ (AUTHOR) pamela-geyer@uiowa.edu

Publikováno v: Nucleus (1949-1034). Dec2024, Vol. 15 Issue 1, p1-19. 19p.