Results 51 to 60 of about 2,950 (183)

UVA-induced upregulation of progerin suppresses 53BP1-mediated NHEJ DSB repair in human keratinocytes via progerin-lamin A complex formation

Oncology Reports, 2017
Ultraviolet (UV) radiation is the primary risk factor underlying photoaging and photocarcinogenesis. Mounting research has focused on the role of DNA damage response pathways in UV-induced double-strand break (DSB) repair. In the present study, we hypothesized that UVA-induced aberrant progerin upregulation may adversely affect p53-binding protein 1 ...
Xin, Huang, Yun, Pan, Di, Cao, Sheng, Fang, Kun, Huang, Jin, Chen, Aijun, Chen   +6 more
openaire   +3 more sources

Progerin expression in human skin.

, 2013
A, RT-PCR analysis of HGPS cells and human skin biopsies of indicated age, primers amplifying wild-type and progerin transcripts. B, Direct sequencing of a short portion within exon 11 of wild type lamin A (LMNA), and progerin transcripts from HGPS and ...
Desiree Ratner (82177), Meepa Lokuge (82178), Karima Djabali (82182), David M. Owens (82179), Dayle McClintock (82176), Francis S. Collins (82181), Leslie B. Gordon (82180)   +6 more
core   +1 more source

Baricitinib Augments Lonafarnib Therapy to Preserve Colonic Homeostasis and Microbial Balance in a Mouse Model of Progeria. [PDF]

Aging Cell
Combined baricitinib and lonafarnib treatment improved colonic pathology in LmnaG609G/G609G progeria mice by reducing progerin, maintaining epithelial regeneration, mitigating inflammation and senescence, and preserving microbiome composition. ABSTRACT Hutchinson‐Gilford Progeria Syndrome (HGPS) is a fatal genetic disorder caused by progerin, a mutant ...
Schroll M, Amar Y, Krüger P, Neuhaus K, Djabali K.   +4 more
europepmc   +2 more sources

Impact of MnTBAP and Baricitinib Treatment on Hutchinson–Gilford Progeria Fibroblasts

Pharmaceuticals, 2022
Hutchinson–Gilford progeria syndrome (HGPS) is a rare premature aging disease. It is caused by a mutation in the LMNA gene, which results in a 50-amino-acid truncation of prelamin A.
Elena Vehns, Rouven Arnold, Karima Djabali   +2 more
doaj   +1 more source

A new connection between VHL and cancer threads through progerin [PDF]

Cell Cycle, 2013
A-type nuclear lamins, all encoded by the LMNA gene through alternative splicing, are targets for mutation in a wide range of rare diseases, including a dominant mutation that enhances production of lamin A splice variant progerin, causing Hutchinson-Gilford progeria syndrome (HGPS).1 Often ignored, however, is the complex and poorly understood ...
openaire   +2 more sources

Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated [PDF]

Journal of Clinical Investigation, 2008
Hutchinson-Gilford progeria syndrome (HGPS), a rare disease that results in what appears to be premature aging, is caused by the production of a mutant form of prelamin A known as progerin. Progerin retains a farnesyl lipid anchor at its carboxyl terminus, a modification that is thought to be important in disease pathogenesis.
Shao H, Yang, Douglas A, Andres, H Peter, Spielmann, Stephen G, Young, Loren G, Fong   +4 more
openaire   +2 more sources

Progerin expression in primary dermal fibroblast cultures.

, 2013
A, Immunofluorescence microscopy on primary dermal fibroblasts from an HGPS subject and unaffected individuals of indicated ages with rabbit monoclonal anti-progerin antibody. B, Immunofluoresence detection of progerin in HGADFN 127 (HGPS individual) and
Desiree Ratner (82177), Meepa Lokuge (82178), Karima Djabali (82182), David M. Owens (82179), Dayle McClintock (82176), Francis S. Collins (82181), Leslie B. Gordon (82180)   +6 more
core   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, Volume 293, Issue 18, Page 5600-5626, September 2026.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Progerin and inflammation in the heart.

, 2018
Progerin and inflammation in the heart.
Santhosh Kumar Ghadge (5150576), Andreas Wimmer (2813278), Valentina Goetsch (5150567), Moritz Messner (5150570), Jakob Dörler (5150573), Gerhard Pölzl (5150579), Marc-Michael Zaruba (5150564)   +6 more
core   +1 more source

Cardiovascular Progerin Suppression and lamin A Restoration Rescues Hutchinson-Gilford Progeria Syndrome. [PDF]

, 2021
Background: Hutchinson-Gilford progeria syndrome (HGPS) is a rare disorder characterized by premature aging and death mainly due to myocardial infarction, stroke, or heart failure.
Anna Barkaway, Camafeita, Emilio, González-Gómez, C, Andrés-Manzano, MJ, Amanda Sánchez-López, Fanjul, V, Sánchez-López, A, Riquelme-Borja, R, Macías, Á, Dorado, B, Sánchez-López, Amanda, Raquel Riquelme-Borja, Andrés, V, Beatriz Dorado, Vicente Andrés, Gonzalo, P, Magda R. Hamczyk, Camafeita, E, Cristina González-Gómez, Ignacio Benedicto, Sussan Nourshargh, Fanjul, Víctor, Barkaway, Anna, Rolas, Loïc, Benedicto, Ignacio, Vázquez, Jesús, Vázquez, J, Del Campo, L, Carla Espinós-Estévez, Hamczyk, Magda R, Emilio Camafeita, Del Campo, Lara, Álvaro Macías, Rolas, L, Pilar Gonzalo, Hamczyk, MR, Nourshargh, S, Gonzalo, Pilar, Macías, Álvaro, Riquelme-Borja, Raquel, Lara del Campo, Espinós-Estévez, Carla, Dorado, Beatriz, Benedicto, I, María J. Andrés-Manzano, Víctor Fanjul, Espinós-Estévez, C, Andres-Manzano, Maria J., Nourshargh, Sussan, Loïc Rolas, Andres, Vicente, González-Gómez, Cristina, Barkaway, A, Jesús Vázquez   +53 more
core   +1 more source