Results 21 to 30 of about 3,005 (182)

Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence [PDF]

Journal of Cell Science, 2010
Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature-aging syndrome caused by a dominant mutation in the gene encoding lamin A, which leads to an aberrantly spliced and processed protein termed progerin.
Erica K. Benson, Sam W. Lee, Stuart A. Aaronson   +2 more
core   +3 more sources

The accumulation of progerin underlies the loss of aortic smooth muscle cells in Hutchinson-Gilford progeria syndrome [PDF]

Cell Death and Disease
Hutchinson-Gilford progeria syndrome (HGPS) is caused by progerin, an internally truncated prelamin A that does not undergo the ZMPSTE24 processing step that releases prelamin A’s farnesylated carboxyl terminus; consequently, progerin remains ...
Paul H. Kim, Joonyoung R. Kim, Patrick J. Heizer, Hyesoo Jung, Yiping Tu, Ashley Presnell, Julia Scheithauer, Rachel G. Yu, Stephen G. Young, Loren G. Fong   +9 more
doaj   +2 more sources

Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy [PDF]

Molecular Therapy: Nucleic Acids
Hutchinson-Gilford progeria syndrome is a fatal genetic disorder caused by a point mutation in the gene encoding the nuclear envelope protein lamin A/C.
Volha Dzianisava, Katarzyna Piekarowicz, Magdalena Machowska, Ryszard Rzepecki   +3 more
doaj   +2 more sources

A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin [PDF]

Cell Reports, 2018
Summary: Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by a truncated lamin A protein (progerin) that drives cellular and organismal decline.
Ray Kreienkamp, Simona Graziano, Nuria Coll-Bonfill, Gonzalo Bedia-Diaz, Emily Cybulla, Alessandro Vindigni, Dale Dorsett, Nard Kubben, Luis Francisco Zirnberger Batista, Susana Gonzalo   +9 more
doaj   +2 more sources

Attenuated Nuclear Tension Regulates Progerin‐Induced Mechanosensitive Nuclear Wrinkling and Chromatin Remodeling

Advanced Science
Hutchinson–Gilford progeria syndrome, caused by a mutation in the LMNA gene, leads to increased levels of truncated prelamin A, progerin, in the nuclear membrane. The accumulation of progerin results in defective nuclear morphology and is associated with
Ji‐Eun Park, Juhyeon Jo, Kun Xu, Sun‐Ah Lee, Seong‐Beom Han, YigJi Lee, Won‐Ki Cho, Bo Li, Soo Hyun Kim, Dong‐Hwee Kim   +9 more
doaj   +2 more sources

In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. [PDF]

Aging Cell
Hutchinson‐Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a mutation in LMNA that produces the toxic progerin protein. In this study, an adenine base editor delivered via AAV9 achieved partial gene correction in HGPS mice when given at two weeks of age, partially rescuing bone structural and gene expression parameters and ...
Cabral WA, Grenko CM, Yeritsyan D, Beeram I, Laiwala S, Johnson LR, Tavarez UL, Yan T, Wincovitch SM, Koblan LW, Gao XD, An M, Narisu N, Biesecker LG, Liu DR, Nazarian A, Collins FS, Erdos MR.   +17 more
europepmc   +2 more sources

METTL14‐Mediated m6A Methylation Preserves Cardiomyocyte Homeostasis and Attenuates Progeria‐Associated Cardiac Remodeling [PDF]

Aging Cell
Progerin accumulation downregulates the expression of m6A methyltransferases METTL3 and METTL14 in cardiac tissues, impairing m6A modification‐mediated regulation of target genes including Casq2, Ifna and Ifnb, leading to calcium signaling dysregulation and pro‐inflammatory activation in the aged heart.
Wang S, Zhang J, Ao Y, Rao D, Yu C, Xu C, Wang M, Li M, Huang X, Zhang J, Mei R, Zhang Z, Sun J, Duan J, Sun Y, Wang Z, Su W, Liu B.   +17 more
europepmc   +2 more sources

Mapping of lamin A- and progerin-interacting genome regions [PDF]

Chromosoma, 2012
Mutations in the A-type lamins A and C, two major components of the nuclear lamina, cause a large group of phenotypically diverse diseases collectively referred to as laminopathies. These conditions often involve defects in chromatin organization.
Kubben, Nard, Adriaens, Michiel, Meuleman, Wouter, Voncken, Jan W, van Steensel, Bas, Misteli, Tom   +5 more
openaire   +2 more sources

Identification of differential protein interactors of lamin A and progerin [PDF]

Nucleus, 2010
The nuclear lamina is an interconnected meshwork of intermediate filament proteins underlying the nuclear envelope. The lamina is an important regulator of nuclear structural integrity as well as nuclear processes, including transcription, DNA replication and chromatin remodeling. The major components of the lamina are A- and B-type lamins.
Kubben, N, Voncken, JW, Demmers, Jeroen, Calis, C, van Almen, G, Pinto, Y, Misteli, T   +6 more
openaire   +3 more sources

Progerin-expressing endothelial cells are unable to adapt to shear stress [PDF]

Biophysical Journal, 2021
Abstract Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare premature aging disease caused by a single-point mutation in the lamin A gene, resulting in a truncated and farnesylated form of lamin A. This mutant lamin A protein, known as progerin, accumulates at the periphery of the nuclear lamina, resulting in both an abnormal nuclear
Brooke E. Danielsson, Hannah C. Peters, Kranthi Bathula, Lindsay M. Spear, Natalie A. Noll, Kris N. Dahl, Daniel E. Conway   +6 more
openaire   +2 more sources