Results 51 to 60 of about 2,732 (185)
Progerin in muscle leads to thermogenic and metabolic defects via impaired calcium homeostasis [PDF]
, 2020 [[abstract]]Mutations in lamin A (LMNA) are responsible for a variety of human dystrophic and metabolic diseases. Here, we created a mouse model in which progerin, the lamin A mutant protein that causes Hutchinson-Gilford progeria syndrome (HGPS), can be
Wang, WP;Wang, JY;Lin, WH;Kao, CH;Hung, MC;Teng, YC;Tsai, TF;Chi, YH
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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 +6 more
doaj +1 more source
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 +2 more
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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 +2 more
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The Impact of Progerin on Genome Maintenance in Mammalian Cells [PDF]
, 2023 Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by accelerated aging. The cause of HGPS is a point mutation in the LMNA gene, which encodes lamins A and the splice variant lamin C.
Joudeh, Liza Alexandra
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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 +4 more
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Spatial changes of progerin expression in a neonatal DA. [PDF]
, 2013 A. (b) Confocal images of immunofluorescence show even nuclear distribution of lamin A/C (red) and (c) nuclear envelope localization of progerin (green) in the media of DA. (a) Nuclei are counterstained with DAPI.
Regina Bökenkamp (344823) +7 more
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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 +10 more
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Progerin detection in a subset of terminally differentiated keratinocytes. [PDF]
, 2013 Left panels correspond to anti-progerin monoclonal antibody staining of skin sections derived from individuals of indicated age. Right panels correspond to the merged signal of dapi and progerin signals.
Desiree Ratner (82177) +6 more
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Increased progerin expression and TUNEL+ cells in DCM hearts. [PDF]
, 2018 A Immunohistochemistry showing increased numbers of progerin expressing cells (arrows, red nuclei) in DCM hearts compared to non-failing controls. Scale bar represents 100μM (rows 1–2) and 25μM (rows 3–4).
Santhosh Kumar Ghadge (5150576) +6 more
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