LEMD2‐associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.

Autor: Matter, Alyssia¹ (AUTHOR), Kaufman, Christina¹ (AUTHOR), Zürcher, Nadia¹ (AUTHOR), Lenggenhager, Daniela² (AUTHOR), Grehten, Patrice³ (AUTHOR), Bartholdi, Deborah⁴ (AUTHOR), Horka, Laura⁵ (AUTHOR), Häberle, Johannes¹ (AUTHOR), Makris, Georgios¹ (AUTHOR) georgios.makris@kispi.uzh.ch

Publikováno v: Aging Cell. Aug2024, Vol. 23 Issue 8, p1-7. 7p.

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The Ercc1 ^-/Δ mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration.

Autor: Narasimhan A; Institute on the Biology of Aging and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA., Min SH; Department of Ophthalmology, University of Florida, Gainesville, Florida, USA., Johnson LL; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA., Roehrich H; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA., Cho W; Department of Physiology and Biophysics, Department of Ophthalmology, Center for Translational Vision Research, University of California Irvine, School of Medicine, Irvine, California, USA., Her TK; Department of Integrative Biology and Physiology, University of Minnesota, Minneapolis, Minnesota, USA., Windschitl C; Institute on the Biology of Aging and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA., O'Kelly RD; Institute on the Biology of Aging and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA., Angelini L; Institute on the Biology of Aging and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA., Yousefzadeh MJ; Institute on the Biology of Aging and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA., McLoon LK; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA., Hauswirth WW; Department of Ophthalmology, University of Florida, Gainesville, Florida, USA., Robbins PD; Institute on the Biology of Aging and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA., Skowronska-Krawczyk D; Department of Physiology and Biophysics, Department of Ophthalmology, Center for Translational Vision Research, University of California Irvine, School of Medicine, Irvine, California, USA., Niedernhofer LJ; Institute on the Biology of Aging and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA.

Publikováno v: Aging cell [Aging Cell] 2024 Nov 27, pp. e14419. Date of Electronic Publication: 2024 Nov 27.

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