A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy
出版年份 2016 全文链接
标题
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy
作者
关键词
-
出版物
Cells
Volume 5, Issue 2, Pages 21
出版商
MDPI AG
发表日期
2016-04-25
DOI
10.3390/cells5020021
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation
- (2016) Pauline Afonso et al. ATHEROSCLEROSIS
- Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A
- (2015) Philippe Andre et al. AMERICAN HEART JOURNAL
- Lipodystrophies: adipose tissue disorders with severe metabolic implications
- (2015) Víctor A. Cortés et al. JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY
- MR of Multi-Organ Involvement in the Metabolic Syndrome
- (2015) Maurice B. Bizino et al. Magnetic Resonance Imaging Clinics of North America
- Evaluation of epicardial adipose tissue in familial partial lipodystrophy
- (2015) Amélio Fernando Godoy-Matos et al. Diabetology & Metabolic Syndrome
- The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy
- (2014) Nathalie Vadrot et al. HUMAN MOLECULAR GENETICS
- Metabolic syndrome: a closer look at the growing epidemic and its associated pathologies
- (2014) S. O'Neill et al. Obesity Reviews
- Nuclear envelope-related lipodystrophies
- (2014) A.C. Guénantin et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective
- (2014) Pierre Cau et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Cardiac Steatosis and Left Ventricular Hypertrophy in Patients With Generalized Lipodystrophy as Determined by Magnetic Resonance Spectroscopy and Imaging
- (2013) Michael D. Nelson et al. AMERICAN JOURNAL OF CARDIOLOGY
- Lipodystrophy-Linked LMNA p.R482W Mutation Induces Clinical Early Atherosclerosis and In Vitro Endothelial Dysfunction
- (2013) Guillaume Bidault et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- What the Genetics of Lipodystrophy Can Teach Us About Insulin Resistance and Diabetes
- (2013) Camille Vatier et al. Current Diabetes Reports
- Novel Forms of Lipodystrophy: Why should we care?
- (2013) K. I. Rother et al. DIABETES CARE
- New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
- (2013) Claire Laure Navarro et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome
- (2013) Bruno Donadille et al. Orphanet Journal of Rare Diseases
- Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity
- (2012) Jemima Barrowman et al. HUMAN MOLECULAR GENETICS
- Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARγ mutation (Y151C)
- (2011) M. E. Visser et al. DIABETOLOGIA
- High prevalence of laminopathies among patients with metabolic syndrome
- (2011) Anne Dutour et al. HUMAN MOLECULAR GENETICS
- Molecular mechanisms of human lipodystrophies: From adipocyte lipid droplet to oxidative stress and lipotoxicity
- (2011) Corinne Vigouroux et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Assessment of epicardial fat volume and myocardial triglyceride content in severely obese subjects: relationship to metabolic profile, cardiac function and visceral fat
- (2011) B Gaborit et al. INTERNATIONAL JOURNAL OF OBESITY
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders
- (2009) Jemima Barrowman et al. BIOLOGICAL CHEMISTRY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation