Related references
Note: Only part of the references are listed.Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes
Yoann Combot et al.
CELL REPORTS (2022)
Not Enough Fat: Mouse Models of Inherited Lipodystrophy
Soazig Le Lay et al.
FRONTIERS IN ENDOCRINOLOGY (2022)
Protein structural and mechanistic basis of progeroid laminopathies
Agathe Marcelot et al.
FEBS JOURNAL (2021)
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman
Pui Tak Yu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!
George M. Martin et al.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES (2021)
Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity
Michela Murdocca et al.
Aging-US (2021)
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies
Julliane Tamara Araujo de Melo Campos et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2021)
Cellular senescence and its role in white adipose tissue
Ulf Smith et al.
INTERNATIONAL JOURNAL OF OBESITY (2021)
Familial partial lipodystrophy syndromes
Antia Fernandez-Pombo et al.
PRESSE MEDICALE (2021)
Aging adipose: Depot location dictates age-associated expansion and dysfunction
Helaina Von Bank et al.
AGEING RESEARCH REVIEWS (2021)
Lamin A/C missense variants: from discovery to functional validation
Julieta Lazarte et al.
NPJ GENOMIC MEDICINE (2021)
The Impact of Rare Human Variants on Barrier-To-Auto-Integration Factor 1 (Banf1) Structure and Function
Maddison Rose et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
The central role of DNA damage in the ageing process
Bjoern Schumacher et al.
NATURE (2021)
Nucleotide Excision Repair: From Molecular Defects to Neurological Abnormalities
Yuliya Krasikova et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2
Julieta Lazarte et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2021)
Pharmacotherapy to gene editing: potential therapeutic approaches for Hutchinson-Gilford progeria syndrome
Saurabh Saxena et al.
GEROSCIENCE (2020)
Role of the DNA repair genes H2AX and HMGB1 in human fat distribution and lipid profiles
Kerstin Rohde et al.
BMJ OPEN DIABETES RESEARCH & CARE (2020)
The taming of PARP1 and its impact on NAD plus metabolism
Sarah Hurtado-Bages et al.
MOLECULAR METABOLISM (2020)
Progerin Expression Induces Inflammation, Oxidative Stress and Senescence in Human Coronary Endothelial Cells
Guillaume Bidault et al.
CELLS (2020)
Adipogenesis: A Complex Interplay of Multiple Molecular Determinants and Pathways
Melvin A. Ambele et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Egr1 loss-of-function promotes beige adipocyte differentiation and activation specifically in inguinal subcutaneous white adipose tissue
Marianne Bleher et al.
SCIENTIFIC REPORTS (2020)
Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease
Alexandre Teixeira Vessoni et al.
GENETICS AND MOLECULAR BIOLOGY (2020)
Cooperation and interplay between base and nucleotide excision repair pathways: From DNA lesions to proteins
Namrata Kumar et al.
GENETICS AND MOLECULAR BIOLOGY (2020)
Diagnosis and treatment of lipodystrophy: a step-by-step approach
D. Araujo-Vilar et al.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2019)
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy
Aquiles Sales Craveiro Sarmento et al.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2019)
Structural Insight into DNA-Dependent Activation of Human Metalloprotease Spartan
Faxiang Li et al.
CELL REPORTS (2019)
Seipin Facilitates Triglyceride Flow to Lipid Droplet and Counteracts Droplet Ripening via Endoplasmic Reticulum Contact
Veijo T. Salo et al.
DEVELOPMENTAL CELL (2019)
Methylome and transcriptome maps of human visceral and subcutaneous adipocytes reveal key epigenetic differences at developmental genes
Stephen T. Bradford et al.
SCIENTIFIC REPORTS (2019)
Transcriptional Regulation of Autophagy Genes via Stage-Specific Activation of CEBPB and PPARG during Adipogenesis: A Systematic Study Using Public Gene Expression and Transcription Factor Binding Datasets
Mahmoud Ahmed et al.
CELLS (2019)
Complex effects of laminopathy mutations on nuclear structure and function
Rosettia Ho et al.
CLINICAL GENETICS (2019)
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
M. M. Hitzert et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
Targeting senescent cells alleviates obesity-induced metabolic dysfunction
Allyson K. Palmer et al.
AGING CELL (2019)
Barrier-to-autointegration factor 1 (Banf1) regulates poly [ADP-ribose] polymerase 1 (PARP1) activity following oxidative DNA damage
Emma Bolderson et al.
NATURE COMMUNICATIONS (2019)
Age-Induced Changes in White, Brite, and Brown Adipose Depots: A Mini-Review
Markus Schosserer et al.
GERONTOLOGY (2018)
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing
Vittoria Cenni et al.
AGEING RESEARCH REVIEWS (2018)
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients
Josivan G. Lima et al.
JOURNAL OF CLINICAL DENSITOMETRY (2018)
Nucleolar Function in Lifespan Regulation
Varnesh Tiku et al.
TRENDS IN CELL BIOLOGY (2018)
Nuclear Genomic Instability and Aging
Laura J. Niedernhofer et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 87 (2018)
The Dysfunctional MDM2-p53 Axis in Adipocytes Contributes to Aging-Related Metabolic Complications by Induction of Lipodystrophy
Zhuohao Liu et al.
DIABETES (2018)
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue
Emilie Capel et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2018)
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
Jennifer A. Wambach et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Caveolae: Structure, Function, and Relationship to Disease
Robert G. Parton
ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, VOL 34 (2018)
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene
Chiara Fiorillo et al.
DNA AND CELL BIOLOGY (2018)
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects
Jorge Luiz Dantas de Medeiros et al.
RESPIRATORY RESEARCH (2018)
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene
Haruka Sasaki et al.
ENDOCRINE JOURNAL (2018)
Homozygous LIPE Mutation in Siblings with Multiple Symmetric Lipomatosis, Partial Lipodystrophy, and Myopathy
Sagit Zolotov et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible
Damian Szklarczyk et al.
NUCLEIC ACIDS RESEARCH (2017)
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
Sahar Elouej et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2017)
PARP-1 Controls the Adipogenic Transcriptional Program by PARylating C/EBPβ and Modulating Its Transcriptional Activity
Xin Luo et al.
MOLECULAR CELL (2017)
Spartan deficiency causes accumulation of Topoisomerase 1 cleavage complexes and tumorigenesis
Reeja S. Maskey et al.
NUCLEIC ACIDS RESEARCH (2017)
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil
Lazaro Batista de Azevedo Medeiros et al.
DIABETOLOGY & METABOLIC SYNDROME (2017)
8-oxoguanine DNA glycosylase (OGG1) deficiency elicits coordinated changes in lipid and mitochondrial metabolism in muscle
Vladimir Vartanian et al.
PLOS ONE (2017)
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection
Asami Okada et al.
HUMAN GENOME VARIATION (2017)
BERing the burden of damage: Pathway crosstalk and posttranslational modification of base excision repair proteins regulate DNA damage management
Kristin L. Limpose et al.
DNA REPAIR (2017)
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy
Josivan Gomes Lima et al.
BONE (2017)
Wiedemann-Rautenstrauch syndrome: A phenotype analysis
Stefano Paolacci et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort
Nevin Ajluni et al.
CLINICAL ENDOCRINOLOGY (2017)
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations
Susana Gonzalo et al.
AGEING RESEARCH REVIEWS (2017)
Neonatal Progeriod Syndrome Associated with Biallelic Truncating Variants in POLR3A
Allison M. Jay et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B
Damien Haye et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation
Pauline Afonso et al.
ATHEROSCLEROSIS (2016)
c-Jun regulates adipocyte differentiation via the KLF15-mediated mode
Da Som Lee et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2016)
Repression of the Antioxidant NRF2 Pathway in Premature Aging
Nard Kubben et al.
CELL (2016)
Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells
Dido Carrero et al.
DISEASE MODELS & MECHANISMS (2016)
Seipin regulates ER-lipid droplet contacts and cargo delivery
Veijo T. Salo et al.
EMBO JOURNAL (2016)
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement
Dimitar N. Azmanov et al.
HUMAN MOLECULAR GENETICS (2016)
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline
Rebecca J. Brown et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
Familial partial lipodystrophy presenting as metabolic syndrome
Darwin Chan et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2016)
Association between circulating adipocytokine concentrations and microvascular complications in patients with type 2 diabetes mellitus: A systematic review and meta-analysis of controlled cross-sectional studies
Alexander J. Rodriguez et al.
JOURNAL OF DIABETES AND ITS COMPLICATIONS (2016)
Mechanism and Regulation of DNA-Protein Crosslink Repair by the DNA-Dependent Metalloprotease SPRTN
Julian Stingele et al.
MOLECULAR CELL (2016)
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair
Bruno Vaz et al.
MOLECULAR CELL (2016)
XPC deficiency is related to APE1 and OGG1 expression and function
Julliane Tamara Araujo de Melo et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2016)
SPRTN is a mammalian DNA-binding metalloprotease that resolves DNA-protein crosslinks
Jaime Lopez-Mosqueda et al.
ELIFE (2016)
Seipin is required for converting nascent to mature lipid droplets
Huajin Wang et al.
ELIFE (2016)
DNA repair, genome stability and cancer: a historical perspective
Penny A. Jeggo et al.
NATURE REVIEWS CANCER (2016)
Increased oxidative phosphorylation in response to acute and chronic DNA damage
Lear E. Brace et al.
NPJ AGING AND MECHANISMS OF DISEASE (2016)
Whole Exome Sequencing Identifies De Novo Heterozygous CAV1 Mutations Associated with a Novel Neonatal Onset Lipodystrophy Syndrome
Abhimanyu Garg et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
InteractiVenn: a web-based tool for the analysis of sets through Venn diagrams
Henry Heberle et al.
BMC BIOINFORMATICS (2015)
DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome
Susana Gonzalo et al.
CURRENT OPINION IN CELL BIOLOGY (2015)
Adiponectin ameliorates hyperglycemia-induced cardiac hypertrophy and dysfunction by concomitantly activating Nrf2 and Brg1
Haobo Li et al.
FREE RADICAL BIOLOGY AND MEDICINE (2015)
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies
Frederic Reinier et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2015)
Congenital generalized lipodystrophies-new insights into metabolic dysfunction
Nivedita Patni et al.
NATURE REVIEWS ENDOCRINOLOGY (2015)
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
Isabelle Schrauwen et al.
PLOS ONE (2015)
ATM Regulates Adipocyte Differentiation and Contributes to Glucose Homeostasis
Masatoshi Takagi et al.
CELL REPORTS (2015)
Transcriptional Regulation of Adipocyte Differentiation: A Central Role for CCAAT/Enhancer-binding Protein (C/EBP) β
Liang Guo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
FOXM1: An emerging master regulator of DNA damage response and genotoxic agent resistance
Stefania Zona et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2014)
Progeria: A Paradigm for Translational Medicine
Leslie B. Gordon et al.
CELL (2014)
ARTD1 (PARP1) activation and NAD(+) in DNA repair and cell death
Elise Fouquerel et al.
DNA REPAIR (2014)
Activating transcription factor 4 regulates adipocyte differentiation via altering the coordinate expression of CCATT/enhancer binding protein β and peroxisome proliferator-activated receptor γ
Kaifan Yu et al.
FEBS JOURNAL (2014)
DNA repair diseases: What do they tell us about cancer and aging?
Carlos F. M. Menck et al.
GENETICS AND MOLECULAR BIOLOGY (2014)
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Davor Lessel et al.
NATURE GENETICS (2014)
Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome
Caterina Pelosini et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2014)
Null Mutation in Hormone-Sensitive Lipase Gene and Risk of Type 2 Diabetes
Jessica S. Albert et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
FOXM1 targets NBS1 to regulate DNA damage-induced senescence and epirubicin resistance
P. Khongkow et al.
ONCOGENE (2014)
OXIDATIVE STRESS: AN ESSENTIAL FACTOR IN THE PATHOGENESIS OF GASTROINTESTINAL MUCOSAL DISEASES
Asima Bhattacharyya et al.
PHYSIOLOGICAL REVIEWS (2014)
Spartan deficiency causes genomic instability and progeroid phenotypes
Reeja S. Maskey et al.
NATURE COMMUNICATIONS (2014)
iRegulon: From a Gene List to a Gene Regulatory Network Using Large Motif and Track Collections
Rekin's Janky et al.
PLOS COMPUTATIONAL BIOLOGY (2014)
Hutchinson-Gilford progeria syndrome through the lens of transcription
Miron Prokocimer et al.
AGING CELL (2013)
Lifespan extension by dietary intervention in a mouse model of Cockayne Syndrome uncouples early postnatal development from segmental progeria
Lear E. Brace et al.
AGING CELL (2013)
A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging
Morten Scheibye-Knudsen et al.
AGING-US (2013)
Severe Congenital Lipodystrophy and a Progeroid Appearance: Mutation in the Penultimate Exon of FBN1 Causing a Recognizable Phenotype
Toshiki Takenouchi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Lipodystrophy-Linked LMNA p.R482W Mutation Induces Clinical Early Atherosclerosis and In Vitro Endothelial Dysfunction
Guillaume Bidault et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2013)
DNA Damage Triggers a Chronic Autoinflammatory Response, Leading to Fat Depletion in NER Progeria
Ismene Karakasilioti et al.
CELL METABOLISM (2013)
Fatty acid binding protein 4 expression marks a population of adipocyte progenitors in white and brown adipose tissues
Tizhong Shan et al.
FASEB JOURNAL (2013)
Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey
Minoru Takemoto et al.
GERIATRICS & GERONTOLOGY INTERNATIONAL (2013)
Early infantile cardiomyopathy and liver disease: A multisystemic disorder caused by congenital lipodystrophy
Francois-Guillaume Debray et al.
MOLECULAR GENETICS AND METABOLISM (2013)
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
Michael N. Weedon et al.
NATURE GENETICS (2013)
The Forkhead Box M1 protein regulates BRIP1 expression and DNA damage repair in epirubicin treatment
L. J. Monteiro et al.
ONCOGENE (2013)
Spectrum and Risk of Neoplasia in Werner Syndrome: A Systematic Review
Julia M. Lauper et al.
PLOS ONE (2013)
Base Excision Repair
Hans E. Krokan et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
FoxM1 Inhibition Sensitizes Resistant Glioblastoma Cells to Temozolomide by Downregulating the Expression of DNA-Repair Gene Rad51
Nu Zhang et al.
CLINICAL CANCER RESEARCH (2012)
Sin3a is essential for the genome integrity and viability of pluripotent cells
Patrick McDonel et al.
DEVELOPMENTAL BIOLOGY (2012)
Visceral fat and metabolic inflammation: the portal theory revisited
F. Item et al.
OBESITY REVIEWS (2012)
8-Oxoguanine DNA Glycosylase (OGG1) Deficiency Increases Susceptibility to Obesity and Metabolic Dysfunction
Harini Sampath et al.
PLOS ONE (2012)
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
Xose S. Puente et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Nestor-Guillermo Progeria Syndrome: A Novel Premature Aging Condition With Early Onset and Chronic Development Caused by BANF1 Mutations
Ruben Cabanillas et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Progeroid Facial Features and Lipodystrophy Associated With a Novel Splice Site Mutation in the Final Intron of the FBN1 Gene
Denise Horn et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Variable penetrance of metabolic phenotypes and development of high-fat diet-induced adiposity in NEIL1-deficient mice
Harini Sampath et al.
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM (2011)
Clinical and genetic heterogeneity in laminopathies
Anne T. Bertrand et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2011)
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation
Rabah Ben Yaou et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine
Shane A. Richards et al.
HUMAN MOLECULAR GENETICS (2011)
Molecular mechanisms of human lipodystrophies: From adipocyte lipid droplet to oxidative stress and lipotoxicity
Corinne Vigouroux et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2011)
Poly(ADP-ribose) Polymerase 1 (PARP-1) Binds to 8-Oxoguanine-DNA Glycosylase (OGG1)
Nicole Noren Hooten et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Lipodystrophies: Genetic and Acquired Body Fat Disorders
Abhimanyu Garg
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
ATM and p53 Regulate FOXM1 Expression via E2F in Breast Cancer Epirubicin Treatment and Resistance
Julie Millour et al.
MOLECULAR CANCER THERAPEUTICS (2011)
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome
Guang-Hui Liu et al.
NATURE (2011)
Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy
Sheetal Gandotra et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Nonhomologous end joining drives poly(ADP-ribose) polymerase (PARP) inhibitor lethality in homologous recombination-deficient cells
Anand G. Patel et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Fat tissue, aging, and cellular senescence
Tamara Tchkonia et al.
AGING CELL (2010)
Early Onset Mandibuloacral Dysplasia Due to Compound Heterozygous Mutations in ZMPSTE24
Zahid Ahmad et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24
Vicki J. Cunningham et al.
BONE (2010)
DNA Damage Links Mitochondrial Dysfunction to Atherosclerosis and the Metabolic Syndrome
John R. Mercer et al.
CIRCULATION RESEARCH (2010)
Mandibuloacral dysplasia: a rare progeroid syndrome Two brothers confirm autosomal recessive inheritance
R. Pallotta et al.
CLINICAL GENETICS (2010)
A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism
Savitha Shastry et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Higher Adiponectin Levels in Patients with Berardinelli-Seip Congenital Lipodystrophy due to Seipin as compared with 1-Acylglycerol-3-Phosphate-O-Acyltransferase-2 Deficiency
Barbara Antuna-Puente et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
PARP1 deficiency exacerbates diet-induced obesity in mice
Kishor Devalaraja-Narashimha et al.
JOURNAL OF ENDOCRINOLOGY (2010)
Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging
York Kamenisch et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2010)
FOXM1 Confers Acquired Cisplatin Resistance in Breast Cancer Cells
Jimmy M. -M. Kwok et al.
MOLECULAR CANCER RESEARCH (2010)
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations
Anna Rajab et al.
PLOS GENETICS (2010)
Lipodystrophies: Disorders of adipose tissue biology
Abhimanyu Garg et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2009)
Analyzing biological network parameters with CentiScaPe
Giovanni Scardoni et al.
BIOINFORMATICS (2009)
The Werner syndrome protein affects the expression of genes involved in adipogenesis and inflammation in addition to cell cycle and DNA damage responses
Ramachander V. N. Turaga et al.
CELL CYCLE (2009)
Structure-function analysis of RNA polymerases I and III
Michel Werner et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2009)
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
Oscar Rubio-Cabezas et al.
EMBO MOLECULAR MEDICINE (2009)
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)
Carlos A. Faria et al.
EUROPACE (2009)
Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan
Tomohiro Morio et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2009)
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
Yukiko K. Hayashi et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation
Alessandra di Masi et al.
CELL CYCLE (2008)
Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects
Maria Fousteri et al.
CELL RESEARCH (2008)
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings
Y. Miyoshi et al.
CLINICAL GENETICS (2008)
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A
Yiyong Liu et al.
FASEB JOURNAL (2008)
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy
C. A. Kim et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging
Tinna Stevnsner et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2008)
Essential role of mitochondrial function in adiponectin synthesis in adipocytes
Eun Hee Koh et al.
DIABETES (2007)
Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence
M. Caron et al.
CELL DEATH AND DIFFERENTIATION (2007)
Adiponectin secretion is regulated by SIRT1 and the endoplasmic reticulum oxidoreductase ero1-lα
Li Qiang et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
The adipocyte as an active participant in energy balance and metabolism
Michael K. Badman et al.
GASTROENTEROLOGY (2007)
DNA repair, mitochondria, and neurodegeneration
L. Weissman et al.
NEUROSCIENCE (2007)
Chk2 mediates stabilization of the FoxM1 transcription factor to stimulate expression of DNA repair genes
Yongjun Tan et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
Laura J. Niedernhofer et al.
NATURE (2006)
Adipocytes as regulators of energy balance and glucose homeostasis
Evan D. Rosen et al.
NATURE (2006)
DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A
Yiyong Liu et al.
JOURNAL OF CELL SCIENCE (2006)
New functions of XPC in the protection of human skin cells from oxidative damage
Mariarosaria D'Errico et al.
EMBO JOURNAL (2006)
Nuclear lamins: Laminopathies and their role in premature ageing
J. L. V. Broers et al.
PHYSIOLOGICAL REVIEWS (2006)
The spectrum of WRN mutations in Werner syndrome patients
Shurong Huang et al.
HUMAN MUTATION (2006)
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency
Anil K. Agarwal et al.
JOURNAL OF INVESTIGATIVE MEDICINE (2006)
The metabolic syndrome resulting from a knockout of the NEIL1 DNA glycosylase
V Vartanian et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation
I Varela et al.
NATURE (2005)
BiNGO: a Cytoscape plugin to assess overrepresentation of Gene Ontology categories in Biological Networks
S Maere et al.
BIOINFORMATICS (2005)
Genomic instability in laminopathy-based premature aging
BH Liu et al.
NATURE MEDICINE (2005)
Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype -: art. no. e36
S Shackleton et al.
JOURNAL OF MEDICAL GENETICS (2005)
Mitochondria, oxidants, and aging
RS Balaban et al.
CELL (2005)
Sensing, signaling, and responding to DNA damage: Organization of the checkpoint pathways in mammalian cells
L Li et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2005)
Longevity, lipotoxicity and leptin: the adipocyte defense against feasting and famine
RH Unger
BIOCHIMIE (2005)
Transcription factors NF-YA regulate the induction of human OGG1 following DNA-alkylating agent methylmethane sulfonate (MMS) treatment
MR Lee et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Oxidative DNA damage and disease: induction, repair and significance
MD Evans et al.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2004)
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome
RD Goldman et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints
A Sancar et al.
ANNUAL REVIEW OF BIOCHEMISTRY (2004)
Oxidative damage to DNA: formation, measurement and biochemical features
J Cadet et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2003)
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy
AK Agarwal et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
AK Agarwal et al.
HUMAN MOLECULAR GENETICS (2003)
Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways
AK Agarwal et al.
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2003)
Lamin A truncation in Hutchinson-Gilford progeria
A De Sandre-Giovannoli et al.
SCIENCE (2003)
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
M Eriksson et al.
NATURE (2003)
Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-γ
DB Savage et al.
DIABETES (2003)
Atypical progeroid syndrome: An unknown helicase gene defect?
MWG Ruijs et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
An automated method for finding molecular complexes in large protein interaction networks
GD Bader et al.
BMC BIOINFORMATICS (2003)
Cytoscape: A software environment for integrated models of biomolecular interaction networks
P Shannon et al.
GENOME RESEARCH (2003)
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or Seipin genes
V Simha et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B
T Stevnsner et al.
ONCOGENE (2002)
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy
RA Hegele et al.
DIABETES (2002)
Functional crosstalk between hOgg1 and the helicase domain of Cockayne syndrome group B protein
JS Tuo et al.
DNA REPAIR (2002)
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
L Van Maldergem et al.
JOURNAL OF MEDICAL GENETICS (2002)
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect
MO Bergo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
G Novelli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Adipogenesis and aging: does aging make fat go MAD?
JL Kirkland et al.
EXPERIMENTAL GERONTOLOGY (2002)
Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice
AM Pendás et al.
NATURE GENETICS (2002)
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
AK Agarwal et al.
NATURE GENETICS (2002)
E2F integrates cell cycle progression with DNA repair, replication, and G2/M checkpoints
B Ren et al.
GENES & DEVELOPMENT (2002)
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
J Magré et al.
NATURE GENETICS (2001)
Transcription factors Oct-1 and NF-YA regulate the p53-independent induction of the GADD45 following DNA damage
SQ Jin et al.
ONCOGENE (2001)