Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives

What have human experimental overfeeding studies taught us about adipose tissue expansion and susceptibility to obesity and metabolic complications?

(2017) D J Cuthbertson et al.   INTERNATIONAL JOURNAL OF OBESITY

Lamins in the nuclear interior − life outside the lamina

(2017) Nana Naetar et al.   JOURNAL OF CELL SCIENCE

LMNA -associated partial lipodystrophy: anticipation of metabolic complications

(2017) Isabelle Jeru et al.   JOURNAL OF MEDICAL GENETICS

VRK2A is an A-type lamin–dependent nuclear envelope kinase that phosphorylates BAF

(2017) Birendra KC et al.   MOLECULAR BIOLOGY OF THE CELL

The molecular architecture of lamins in somatic cells

(2017) Yagmur Turgay et al.   NATURE

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus

(2017) Alice Barateau et al.   PLoS One

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

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria SyndromeClinical Perspective

(2016) Leslie B. Gordon et al.   CIRCULATION

Leptin Substitution in Patients With Lipodystrophy: Neural Correlates for Long-term Success in the Normalization of Eating Behavior

(2016) Haiko Schlögl et al.   DIABETES

One-year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes

(2016) C. Vatier et al.   DIABETES OBESITY & METABOLISM

Adipose tissue plasticity: how fat depots respond differently to pathophysiological cues

(2016) Vanessa Pellegrinelli et al.   DIABETOLOGIA

EJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessons

(2016) R K Semple   EUROPEAN JOURNAL OF ENDOCRINOLOGY

ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene

(2016) Maria Chatzifrangkeskou et al.   HUMAN MOLECULAR GENETICS

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

(2016) Rebecca J. Brown et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy

(2016) Caroline Le Dour et al.   JOURNAL OF LIPID RESEARCH

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance

(2016) Luca A Lotta et al.   NATURE GENETICS

The role of diet and exercise in the transgenerational epigenetic landscape of T2DM

(2016) Romain Barrès et al.   Nature Reviews Endocrinology

Laminopathies disrupt epigenomic developmental programs and cell fate

(2016) Jelena Perovanovic et al.   Science Translational Medicine

LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A

(2016) Yiping Tu et al.   Nucleus

LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A

(2016) Yiping Tu et al.   Nucleus

Anchoring a Leviathan: How the Nuclear Membrane Tethers the Genome

(2016) Rafal Czapiewski et al.   Frontiers in Genetics

Nuclear membrane diversity: underlying tissue-specific pathologies in disease?

(2015) Howard J Worman et al.   CURRENT OPINION IN CELL BIOLOGY

Lamins at the crossroads of mechanosignaling

(2015) Selma Osmanagic-Myers et al.   GENES & DEVELOPMENT

Prepatterning of differentiation-driven nuclear lamin A/C-associated chromatin domains by GlcNAcylated histone H2B

(2015) Torunn Rønningen et al.   GENOME RESEARCH

Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes

(2015) Elisa Cesarini et al.   JOURNAL OF CELL BIOLOGY

Partial and Generalized Lipodystrophy: Comparison of Baseline Characteristics and Response to Metreleptin

(2015) Talia Diker-Cohen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins

(2015) Camilla Evangelisti et al.   Oncotarget

Brown Adipose Tissue Improves Whole-Body Glucose Homeostasis and Insulin Sensitivity in Humans

(2014) M. Chondronikola et al.   DIABETES

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

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

(2014) F. Payne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human induced pluripotent stem cells: A new source for brown and white adipocytes

(2014) Anne-Laure Hafner   World Journal of Stem Cells

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

(2013) Christel Thauvin-Robinet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Fibrosis and Adipose Tissue Dysfunction

(2013) Kai Sun et al.   Cell Metabolism

Lamin A/C-promoter interactions specify chromatin state-dependent transcription outcomes

(2013) E. Lund et al.   GENOME RESEARCH

Deregulation of Fragile X-related protein 1 by the lipodystrophic lamin A p.R482W mutation elicits a myogenic gene expression program in preadipocytes

(2013) Anja R. Oldenburg et al.   HUMAN MOLECULAR GENETICS

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

(2013) Michael N Weedon et al.   NATURE GENETICS

Nuclear Lamin-A Scales with Tissue Stiffness and Enhances Matrix-Directed Differentiation

(2013) J. Swift et al.   SCIENCE

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

(2012) Cristina Capanni et al.   CELL CYCLE

Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy–causing mutations

(2012) Dan N. Simon et al.   MOLECULAR BIOLOGY OF THE CELL

Programming human pluripotent stem cells into white and brown adipocytes

(2012) Tim Ahfeldt et al.   NATURE CELL BIOLOGY

Sp1 Transcription Factor Interaction with Accumulated Prelamin A Impairs Adipose Lineage Differentiation in Human Mesenchymal Stem Cells: Essential Role of Sp1 in the Integrity of Lipid Vesicles

(2012) Garbiñe Ruiz de Eguino et al.   Stem Cells Translational Medicine

LMNA Mutations Induce a Non-Inflammatory Fibrosis and a Brown Fat-Like Dystrophy of Enlarged Cervical Adipose Tissue

(2011) Véronique Béréziat et al.   AMERICAN JOURNAL OF PATHOLOGY

Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts

(2011) Sofia Avnet et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations

(2011) D. Araújo-Vilar et al.   CLINICAL ENDOCRINOLOGY

Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins

(2011) Isabelle Duband-Goulet et al.   EXPERIMENTAL CELL RESEARCH

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

A Homozygous Mutation of Prelamin-A Preventing Its Farnesylation and Maturation Leads to a Severe Lipodystrophic Phenotype: New Insights into the Pathogenicity of Nonfarnesylated Prelamin-A

(2011) Caroline Le Dour et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Nuclear lamins and laminopathies

(2011) Howard J. Worman   JOURNAL OF PATHOLOGY

Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

(2011) Sheetal Gandotra et al.   NEW ENGLAND JOURNAL OF MEDICINE

Developmental Origins of the Adipocyte Lineage: New Insights from Genetics and Genomics Studies

(2011) Nathalie Billon et al.   Stem Cell Reviews and Reports

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging

(2010) Michelle Olive et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Lamin complexes in the nuclear interior control progenitor cell proliferation and tissue homeostasis

(2010) Nana Naetar et al.   CELL CYCLE

Lamin A precursor induces barrier-to-autointegration factor nuclear localization

(2010) Cristina Capanni et al.   CELL CYCLE

Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome

(2009) F Lombardi et al.   CLINICAL GENETICS

Efficacy of leptin therapy in the different forms of human lipodystrophy

(2009) A. Y. Chong et al.   DIABETOLOGIA

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation inCIDEC

(2009) Oscar Rubio-Cabezas et al.   EMBO Molecular Medicine

The R439C mutation inLMNAcauses lamin oligomerization and susceptibility to oxidative stress

(2009) Valerie L.R.M. Verstraeten et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Atypical Progeroid Syndrome due to Heterozygous MissenseLMNAMutations

(2009) Abhimanyu Garg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

(2009) Yukiko K. Hayashi et al.   JOURNAL OF CLINICAL INVESTIGATION

The role ofLMNAin adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation

(2009) Kari M. Wojtanik et al.   JOURNAL OF LIPID RESEARCH

Functional Brown Adipose Tissue in Healthy Adults

(2009) Kirsi A. Virtanen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

(2008) C. A. Kim et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Analysis of Prelamin A Biogenesis Reveals the Nucleus to be a CaaX Processing Compartment

(2008) Jemima Barrowman et al.   MOLECULAR BIOLOGY OF THE CELL