Results 41 to 50 of about 2,950 (183)

miR-140-5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson-Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway. [PDF]

Aging Cell
This study identifies a novel molecular mechanism involving miR‐140‐5p that contributes to the pathogenesis of HGPS. By decreasing NRF2 expression, miR‐140‐5p overexpression results in downregulation of the NRF2/KEAP1/HO‐1 antioxidant pathway in HGPS fibroblasts, leading to increased oxidative stress and mitochondrial dysfunction, two hallmarks of ...
Toury L, Frankel D, Nael S, Abaji M, Le Goff L, Basset M, Airault C, Vernay B, Novoa-Del-Toro EM, Bartoli C, Baudot A, Magdinier F, Kaspi E, Roll P.   +13 more
europepmc   +2 more sources

Chromatin and Cytoskeletal Tethering Determine Nuclear Morphology in Progerin-Expressing Cells [PDF]

Biophysical Journal, 2020
38 pages, 25 ...
Lionetti, Maria Chiara, Bonfanti, Silvia, Fumagalli, Maria Rita, Budrikis, Zoe, Font-Clos, Francesc, Costantini, Giulio, Chepizhko, Oleksandr, Zapperi, Stefano, La Porta Caterina   +8 more
openaire   +4 more sources

Increasing the length of progerin's isoprenyl anchor does not worsen bone disease or survival in mice with Hutchinson-Gilford progeria syndrome

Journal of Lipid Research, 2009
Hutchinson-Gilford progeria syndrome (HGPS) is caused by the synthesis of a truncated prelamin A, commonly called progerin, that contains a carboxyl-terminal farnesyl lipid anchor.
Brandon S.J. Davies, Shao H. Yang, Emily Farber, Roger Lee, Suzanne B. Buck, Douglas A. Andres, H. Peter Spielmann, Brian J. Agnew, Fuyuhiko Tamanoi, Loren G. Fong, Stephen G. Young   +10 more
doaj   +1 more source

Progerin modulates the IGF-1R/Akt signaling involved in aging

Science Advances, 2022
Progerin, a product of LMNA mutation, leads to multiple nuclear abnormalities in patients with Hutchinson-Gilford progeria syndrome (HGPS), a devastating premature aging disorder. Progerin also accumulates during physiological aging.
Bo Jiang, Xuan Wu, Fang Meng, Limiao Si, Sunrun Cao, Yuqing Dong, Huayi Sun, Mengzhu Lv, Hongde Xu, Ning Bai, Qiqiang Guo, Xiaoyu Song, Yang Yu, Wendong Guo, Fei Yi, Tingting Zhou, Xiaoman Li, Yanling Feng, Zhuo Wang, Dan Zhang, Yi Guan, Mengtao Ma, Jingwei Liu, Xining Li, Weidong Zhao, Baohua Liu, Toren Finkel, Liu Cao   +27 more
openaire   +2 more sources

The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin. [PDF]

PLoS ONE, 2007
Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare disorder characterized by accelerated aging and early death, frequently from stroke or coronary artery disease. 90% of HGPS cases carry the LMNA G608G (GGC>GGT) mutation within exon 11 of
Dayle McClintock, Desiree Ratner, Meepa Lokuge, David M Owens, Leslie B Gordon, Francis S Collins, Karima Djabali   +6 more
doaj   +1 more source

Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence

Cells, 2021
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease caused by a mutation in LMNA. A G608G mutation in exon 11 of LMNA is responsible for most HGPS cases, generating a truncated protein called “progerin”.
Jennifer M. Röhrl, Rouven Arnold, Karima Djabali   +2 more
doaj   +1 more source

Progerin mislocalizes myocardin-related transcription factor in Hutchinson–Guilford Progeria syndrome

Vascular Biology, 2022
Hutchinson–Guilford Progeria syndrome (HGPS) is a rare genetic disease of premature aging and early death due to cardiovascular disease. The arteries of HGPS children and mice are pathologically stiff, and HGPS mice also display reduced arterial ...
Ryan von Kleeck, Paola Castagnino, Richard K Assoian   +2 more
doaj   +1 more source

Development of an accelerated cellular model for early changes in Alzheimer’s disease

Scientific Reports, 2023
Alzheimer’s Disease (AD) is a leading cause of dementia characterized by amyloid plaques and neurofibrillary tangles, and its pathogenesis remains unclear.
Huijing Xue, Sylvester Gate, Emma Gentry, Wolfgang Losert, Kan Cao   +4 more
doaj   +1 more source

Investigation of progerin expression in non-Hutchinson-Gilford Progeria Syndrome individuals

, 2023
Hutchinson-Gilford Progerin Syndrome (HGPS) is a premature aging disease caused by a point mutation in the LMNA gene, which encodes A-type lamins. This mutation activates a cryptic splice donor in exon 11 and leads to the production of a toxic lamin ...
Yu, Reynold
core   +1 more source

Quantification of Farnesylated Progerin in Hutchinson-Gilford Progeria Patient Cells by Mass Spectrometry [PDF]

, 2022
Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal disorder characterized by premature aging and death at a median age of 14.5 years. The most common cause of HGPS (affecting circa 90% of patients) is a de novo heterozygous synonymous single ...
Andrés, Vicente, Vázquez, Jesús, Inmaculada Jorge, Camafeita, Emilio, Rivera Torres, José, Emilio Camafeita, José Rivera-Torres, Rivera-Torres, José, Jesús Vázquez, Vicente Andrés, Jorge, Inmaculada   +10 more
core   +1 more source