A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype

(2017) Diana Gabriel et al.   PLoS One

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

Modulation of LMNA splicing as a strategy to treat prelamin A diseases

(2016) John M. Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

Successful cardiac transplantation in a patient with congenital generalized lipodystrophy

(2016) Sonia Marcos-Alonso et al.   PEDIATRIC TRANSPLANTATION

Rapamycin Reverses Metabolic Deficits in Lamin A/C-Deficient Mice

(2016) Chen-Yu Liao et al.   Cell Reports

Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies

(2015) J Scharner et al.   GENE THERAPY

A Report of Three Cases With Acquired Generalized Lipodystrophy With Distinct Autoimmune Conditions Treated With Metreleptin

(2015) Jasmin Lebastchi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

(2014) Christopher T. Johansen et al.   JOURNAL OF LIPID RESEARCH

Chemical Inhibition of NAT10 Corrects Defects of Laminopathic Cells

(2014) D. Larrieu et al.   SCIENCE

Homozygous Lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy

(2013) Katie M. Wiltshire et al.   NEUROMUSCULAR DISORDERS

Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations

(2012) Patricia B Mory et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

(2012) L. B. Gordon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted Gene Correction of Laminopathy-Associated LMNA Mutations in Patient-Specific iPSCs

(2011) Guang-Hui Liu et al.   Cell Stem Cell

Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein Clearance in Hutchinson-Gilford Progeria Syndrome Cells

(2011) K. Cao et al.   Science Translational Medicine

Diabetes mellitus de difícil manejo asociada síndrome de lipodistrofia congénita generalizada

(2010) R. Cardona-Hernández et al.   ANALES DE PEDIATRIA

Leptin and mTOR: Partners in metabolism and inflammation

(2010) Clarissa Maya-Monteiro et al.   CELL CYCLE

Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation

(2009) Patricia B. Mory et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Atypical Progeroid Syndrome due to Heterozygous MissenseLMNAMutations

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

Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

(2008) Melissa A. Merideth et al.   NEW ENGLAND JOURNAL OF MEDICINE

Leptin-enhanced neointimal hyperplasia is reduced by mTOR and PI3K inhibitors

(2008) J. Shan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA