Results 21 to 30 of about 17,639 (297)

The Molecular and Cellular Basis of Hutchinson–Gilford Progeria Syndrome and Potential Treatments

Genes, 2023
Hutchinson–Gilford progeria syndrome (HGPS) is a rare, autosomal-dominant, and fatal premature aging syndrome. HGPS is most often derived from a de novo point mutation in the LMNA gene, which results in an alternative splicing defect and the generation ...
Noelle Batista, Sanket Desai, Alexis M. Perez, Alex L. Finkelstein, Rachel Radigan, Manrose Singh, Aaron Landman, Brian D Drittel, D. Abramov, Mina Ahsan, S. Cornwell, D. Zhang   +11 more
semanticscholar   +1 more source

Long lifetime and tissue-specific accumulation of lamin A/C in Hutchinson–Gilford progeria syndrome

Journal of Cell Biology, 2023
Mutations in many broadly expressed proteins cause diseases that manifest only in specific tissues. We show that the mutation that causes Hutchinson–Gilford progeria syndrome slows lamin A/C protein turnover in disease-afflicted tissues, causing the ...
John Hasper, Kevin A. Welle, Kyle Swovick, Jennifer R. Hryhorenko, Sina Ghaemmaghami, A. Buchwalter   +5 more
semanticscholar   +1 more source

In Vivo Base Editing Rescues Hutchinson-Gilford Progeria Syndrome in Mice

Nature, 2020
Hutchinson–Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative C•G-to-T•A mutation (c.1824 C>T; p.G608G) in LMNA, the gene that encodes nuclear lamin A.
Luke W. Koblan, M. Erdos, Christopher Wilson, W. A. Cabral, Jonathan M. Levy, Zheng-Mei Xiong, Urraca L Tavarez, Lindsay M Davison, Yantenew G. Gete, Xiaojing Mao, Gregory A. Newby, S. P. Doherty, Narisu Narisu, Quanhu Sheng, Chad Krilow, Charles Y. Lin, L. Gordon, Kan Cao, F. Collins, Jonathan D. Brown, David R. Liu   +20 more
semanticscholar   +1 more source

The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor–Guillermo progeria syndrome cells

Nucleic Acids Research, 2022
Nestor–Guillermo progeria syndrome (NGPS) is caused by a homozygous alanine-to-threonine mutation at position 12 (A12T) in barrier-to-autointegration factor (BAF). It is characterized by accelerated aging with severe skeletal abnormalities.
Anne F. J. Janssen, A. Marcelot, S. Breusegem, Pierre Legrand, S. Zinn-Justin, D. Larrieu   +5 more
semanticscholar   +1 more source

Endothelial and systemic upregulation of miR-34a-5p fine-tunes senescence in progeria

Aging, 2022
Endothelial defects significantly contribute to cardiovascular pathology in the premature aging disease Hutchinson-Gilford progeria syndrome (HGPS). Using an endothelium-specific progeria mouse model, we identify a novel, endothelium-specific microRNA ...
Christina Manakanatas, S. K. Ghadge, Azra Agic, Fatih Sarigol, Petra Fichtinger, I. Fischer, R. Foisner, S. Osmanagic-Myers   +7 more
semanticscholar   +1 more source

NRF2 signalling in cytoprotection and metabolism

British Journal of Pharmacology, EarlyView., 2023
The KEAP1‐NRF2 system plays a central role in cytoprotection in defence mechanisms against oxidative stress. The KEAP1‐NRF2 system has been regarded as a sulfur‐utilizing cytoprotective mechanism, because KEAP1 serves as a biosensor for electrophiles by using its reactive thiols and NRF2 is a transcriptional factor regulating genes involved in sulfur ...
Shohei Murakami, Yusuke Kusano, Keito Okazaki, Takaaki Akaike, Hozumi Motohashi   +4 more
wiley   +1 more source

Hutchinson-Gilford progeria syndrome

Definitions, 2020
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other ...
Keith Wheaton
semanticscholar   +1 more source

Vascular senescence in progeria: role of endothelial dysfunction

European Heart Journal Open, 2022
Aims Hutchinson–Gilford progeria syndrome (HGPS) is a pre-mature aging disorder caused by the mutation of the LMNA gene leading to an irreversibly farnesylated lamin A protein: progerin.
Qiu Xu, A. Mojiri, Luay Boulahouache, Elisa Morales, Brandon K. Walther, J. Cooke   +5 more
semanticscholar   +1 more source

DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome

Aging Cell, 2022
Hutchinson–Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder caused by mutations in the LMNA gene and characterized by premature and accelerated aging beginning in childhood.
Yosra Bejaoui, Aleem Razzaq, N. Yousri, J. Oshima, A. Mégarbané, Abeer Qannan, Ramya Pottabatula, T. Alam, George M. Martin, H. F. Horn, T. Haaf, S. Horvath, N. El Hajj   +12 more
semanticscholar   +1 more source

Transient expression of an adenine base editor corrects the Hutchinson-Gilford progeria syndrome mutation and improves the skin phenotype in mice

Nature Communications, 2022
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder caused by a point mutation in the LMNA gene (LMNA c.1824 C > T), resulting in the production of a detrimental protein called progerin.
D. Whisenant, Kayeong Lim, Gwladys Revêchon, Haidong Yao, M. Bergo, P. Machtel, Jin-Soo Kim, M. Eriksson   +7 more
semanticscholar   +1 more source