A5022568157- Nuclear Structure and Function
- Genetics, Aging, and Longevity in Model Organisms
- Ubiquitin and proteasome pathways
- RNA Research and Splicing
- PARP inhibition in cancer therapy
- Birth, Development, and Health
- Health, Education, and Aging
- Atherosclerosis and Cardiovascular Diseases
- Genital Health and Disease
- Hippo pathway signaling and YAP/TAZ
- Nutrition and Health in Aging
- Cardiovascular Disease and Adiposity
- Health, Nursing, Elderly Care
- Mitochondrial Function and Pathology
- Diet and metabolism studies
- Muscle Physiology and Disorders
- Adipose Tissue and Metabolism
Spanish National Centre for Cardiovascular Research
2019-2024
Centro de Investigación Biomédica en Red
2020-2024
Centro de Investigación en Red en Enfermedades Cardiovasculares
2020-2024
Hospital Universitario de Getafe
2016
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder for which no cure exists. The disease characterized by premature aging and inevitable death in adolescence due to cardiovascular complications. Most HGPS patients carry a heterozygous de novo LMNA c.1824C > T mutation, provokes the expression of dominant-negative mutant protein called progerin. Therapies proven effective HGPS-like mouse models have yielded only modest benefit clinical trials. To overcome gap...
Aging | doi:10.18632/aging.101078. Consuelo Borras, Kheira M. Abdelaziz, Juan Gambini, Eva Serna, Marta Inglés, Monica de la Fuente, Idoia Garcia, Ander Matheu, Paula Sanchís, Angel Belenguer, Alessandra Errigo, Juan- Antonio Avellana, Ana Barettino, Carla Lloret-Fernández, Nuria Flames, Gianni Pes, Leocadio Rodriguez-Mañas, Jose Viña
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease caused by the expression of progerin, aberrant protein produced a point mutation in LMNA gene. HGPS patients show accelerated aging and die prematurely mainly from complications atherosclerosis such as myocardial infarction, heart failure, or stroke. However, mechanisms underlying vascular pathology remain ill defined. We used single-cell RNA sequencing to characterize aorta progerin-expressing LmnaG609G/G609G mice...
Hutchinson–Gilford progeria syndrome (HGPS) is a rare disease caused by the expression of progerin, mutant protein that accelerates aging and precipitates death. Given atherosclerosis complications are main cause death in progeria, here, we investigated whether progerin-induced prevented HGPSrev-Cdh5-CreERT2 HGPSrev-SM22α-Cre mice with progerin suppression endothelial cells (ECs) vascular smooth muscle (VSMCs), respectively. were undistinguishable from HGPSrev ubiquitous expression, contrast...
Aging is the main risk factor for cardiovascular and metabolic diseases, which have become a global concern as world population ages. These diseases aging process are exacerbated in Hutchinson-Gilford progeria syndrome (HGPS or progeria). Here, we evaluated cardiometabolic disease animal models of premature normal with aim identifying alterations that shared specific to each condition. Despite differences body composition markers, prematurely normally mice developed heart failure similar...
Abstract Hutchinson‐Gilford progeria syndrome (HGPS) is a rare genetic disorder caused by mutation in the LMNA gene that provokes synthesis of progerin, mutant version nuclear protein lamin A accelerates aging and precipitates death. The most clinically relevant feature HGPS development cardiac anomalies severe vascular alterations, including massive loss smooth muscle cells, increased fibrosis, generalized atherosclerosis. However, it unclear if progerin expression endothelial cells (ECs)...