نتایج جستجو برای: progeria

تعداد نتایج: 858  

2018
Aurora Paola Borroni Andrea Emanuelli Pooja Anil Shah Nataša Ilić Liat Apel‐Sarid Biagio Paolini Dhanoop Manikoth Ayyathan Praveen Koganti Gal Levy‐Cohen Michael Blank

A-lamins, encoded by the LMNA gene, are major structural components of the nuclear lamina coordinating essential cellular processes. Mutations in the LMNA gene and/or alterations in its expression levels have been linked to a distinct subset of human disorders, collectively known as laminopathies, and to cancer. Mechanisms regulating A-lamins are mostly obscure. Here, we identified E3 ubiquitin...

2017
Shailima Rampogu Ayoung Baek Minky Son Amir Zeb Chanin Park Raj Kumar Gihwan Lee Donghwan Kim Yeonuk Choi Yeongrae Cho Yohan Park Seok Ju Park Keun Woo Lee

Progeria is a rare genetic disorder characterized by premature aging that eventually leads to death and is noticed globally. Despite alarming conditions, this disease lacks effective medications; however, the farnesyltransferase inhibitors (FTIs) are a hope in the dark. Therefore, the objective of the present article is to identify new compounds from the databases employing pharmacophore based ...

2011
Xiaodong Mu Koji Takayama Kurt Weiss Johnny Huard

INTRODUCTION: Over the last few years, the study of mouse model of progeria in which certain aspects of aging are manifested has expanded our knowledge of the molecular basis of aging. Such mouse models of accelerated-aging include XPF-ERCC1 deficient (ERCC-/Δ) mice, and Zmpste24 deficient mice (Z24-/-). Both of these mouse models demonstrate spontaneous premature onset of aging-related changes...

Journal: :The Journal of clinical investigation 2016
Su-Jin Lee Youn-Sang Jung Min-Ho Yoon So-Mi Kang Ah-Young Oh Jee-Hyun Lee So-Young Jun Tae-Gyun Woo Ho-Young Chun Sang Kyum Kim Kyu Jin Chung Ho-Young Lee Kyeong Lee Guanghai Jin Min-Kyun Na Nam Chul Ha Clea Bárcena José M P Freije Carlos López-Otín Gyu Yong Song Bum-Joon Park

Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant genetic disease that is caused by a silent mutation of the LMNA gene encoding lamins A and C (lamin A/C). The G608G mutation generates a more accessible splicing donor site than does WT and produces an alternatively spliced product of LMNA called progerin, which is also expressed in normal aged cells. In this study, we det...

2015
Claudia Cavadas

Caloric restriction (CR), the reduced intake of calories without malnutrition, extends lifespan of many organisms, from yeast to mammals, and delays the progression of age-related diseases. Evidence show that hypothalamus is a crucial brain region for the progress of whole-body aging [1] and the beneficial effects induced by CR are regulated by nutrient-sensing neurons located in the hypothalam...

2013
Chelsi J. Snow Ashraf Dar Anindya Dutta Ralph H. Kehlenbach Bryce M. Paschal

The RanGTPase acts as a master regulator of nucleocytoplasmic transport by controlling assembly and disassembly of nuclear transport complexes. RanGTP is required in the nucleus to release nuclear localization signal (NLS)-containing cargo from import receptors, and, under steady-state conditions, Ran is highly concentrated in the nucleus. We previously showed the nuclear/cytoplasmic Ran distri...

Journal: :PLoS ONE 2009
Mubashir Hanif Ylva Rosengardten Hanna Sagelius Björn Rozell Maria Eriksson

Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes. These disorders include the premature aging disorders Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, as well as restrictive dermopathy. Prior studies have shown that the lamin A/C and B proteins are expressed in skin, but little is known about their normal expre...

2017
Chun-Long Zhang Xinguang Liu Qiu-Jing He Huiling Zheng Shun Xu Xing-Dong Xiong Yuan Yuan Jie Ruan Jiang-Bin Li Yu Xing Zhongjun Zhou Shixiong Deng

Cellular senescence is an irreversible growth arrest of cells that maintain their metabolic activities. Premature senescence can be induced by different stress factors and occurs in mouse embryonic fibroblasts (MEFs) derived from Zmpste24 metalloproteinase‑deficient mice, a progeria mouse model of Hutchinson‑Gilford Progeria Syndrome. Previous studies have shown that miR‑342‑5p, an intronic mic...

2011
C. Herbert Pratt Michelle Curtain Leah Rae Donahue Lindsay S. Shopland

BACKGROUND Lamin A (LMNA) is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350) and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670). Cells from progeria patients exhibit cell cycle defects in both interphase and mitosis. Mouse models with loss of LMNA function h...

Journal: :Biochemical Society transactions 2011
Xavier Nissan Sophie Blondel Marc Peschanski

Progeria, also known as HGPS (Hutchinson-Gilford progeria syndrome), is a rare fatal genetic disease characterized by an appearance of accelerated aging in children. This syndrome is typically caused by mutations in codon 608 (C1804T) of the gene encoding lamins A and C, LMNA, leading to the production of a truncated form of the protein called progerin. Owing to their unique potential to self-r...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید