Results 1 to 10 of about 4,130 (205)

Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS

Cells, 2023
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of the LMNA gene.
Bum-Joon Park, So-Mi Kang, Bae-Hoon Kim   +2 more
exaly   +4 more sources

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells [PDF]

Cells, 2022
Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging.
Karim Harhouri, Pierre Cau, Frank Casey, Koffi Mawuse Guedenon, Yassamine Doubaj, Lionel Van Maldergem, Gerardo Mejia-Baltodano, Catherine Bartoli, Annachiara De Sandre-Giovannoli, Nicolas Lévy   +9 more
doaj   +2 more sources

Hutchinson-Gilford progeria syndrome alters the endothelial genetic response to laminar shear stress [PDF]

Frontiers in Physiology
IntroductionHutchinson-Gilford Progeria Syndrome (HGPS) is a fatal, accelerated-aging disease caused by a mutation in the nuclear envelope protein Lamin A.
Crystal C. Kennedy, Jonathan L. Carter, George A. Truskey, George A. Truskey   +3 more
doaj   +2 more sources

Lonafarnib and everolimus reduce pathology in iPSC-derived tissue engineered blood vessel model of Hutchinson-Gilford Progeria Syndrome

Scientific Reports, 2023
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic disease that accelerates atherosclerosis. With a limited pool of HGPS patients, clinical trials face unique challenges and require reliable preclinical testing. We previously reported a
Nadia O. Abutaleb, Leigh Atchison, Leandro Choi, Akhil Bedapudi, Kevin Shores, Yantenew Gete, Kan Cao, George A. Truskey   +7 more
doaj   +2 more sources

Single-cell RNA sequencing analysis reveals the critical role of fibroblasts in aortic progeria-associated vascular remodeling in Hutchinson-Gilford progeria syndrome mice [PDF]

Frontiers in Immunology
BackgroundPatients with Hutchinson-Gilford progeria syndrome (HGPS) typically succumb to cardiovascular diseases in their teens. Although fibroblasts have been implicated in the progression of arteriosclerosis, their roles and mechanisms in progeroid ...
Qian Sun, Qian Sun, Liehao Yang, Liehao Yang, Zilong Zhou, Nan Wu, Chunyi Li, Qianying Hu, Xianling Cong, Xianling Cong   +9 more
doaj   +2 more sources

Hemoglobinopathies and iron deficiency among Northeast-Thai blood donors deferred for low hemoglobin [PDF]

Scientific Reports
While iron deficiency (ID) is well-known as the main reason for low hemoglobin (Hb) deferral among blood donors, the contribution of hemoglobinopathies (HgPs) has been overlooked.
Tassaneewan Chueajetton, Hataichanok Srivorakun, Pattara Sanchaisuriya, Kanokwan Sanchaisuriya   +3 more
doaj   +2 more sources

Extracellular matrix abnormalities in Hutchinson–Gilford progeria fibroblasts: a specific defect in collagen IV and basement membrane architecture? [PDF]

Matrix Biology Plus
Hutchinson–Gilford progeria (HGPS) is a rare genetic disorder characterized by clinical features that mimic accelerated aging. The classical form of progeria is caused by a heterozygous pathogenic variant in in the LMNA gene resulting in the truncated ...
Shreya Karmacharya, Arthur Lauri Pasanen-Zentz, Franziska Busse, Nils Michael Kronenberg, Diego Rodrigo Alvarez Chavez, Suzan Al-Gburi, Tristan Lerbs, Bent Brachvogel, Clara Velmans, Iliana Tantcheva-Poor, Raimund Wagener, Mats Paulsson, Carien M. Niessen, Malte Christian Gather, Thomas Krieg, Alvise Schiavinato   +15 more
doaj   +2 more sources

General anesthesia in patient with Hutchinson-Gilford Progeria syndrome: two case reports of dental treatment in the one patient [PDF]

BMC Anesthesiology
Background Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that manifests itself in premature aging. Craniofacial and skeletal abnormalities, cardiovascular pathology, concomitant cerebrovascular diseases, and potential airway ...
B. Mankovsky, O. Halushko, Y. Zablotskyy, M. Synytsyn   +3 more
doaj   +2 more sources

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