Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

(2018) Murat Durdu et al.   BMC Medical Genetics

A Proximity Labeling Strategy Provides Insights into the Composition and Dynamics of Lipid Droplet Proteomes

(2018) Kirill Bersuker et al.   DEVELOPMENTAL CELL

Stepping outside the comfort zone of membrane contact site research

(2018) Maria Bohnert et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Pigment epithelium-derived factor in lipid metabolic disorders

(2018) Kuang-Tzu Huang et al.   Biomedical Journal

Lipid Droplets in Cancer: Guardians of Fat in a Stressful World

(2018) Toni Petan et al.   MOLECULES

Of mice and men: The physiological role of adipose triglyceride lipase (ATGL)

(2018) Renate Schreiber et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Molecular mechanism of the ichthyosis pathology of Chanarin–Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5

(2018) Yusuke Ohno et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

ABHD5 stimulates PNPLA1-mediated ω-O-acylceramide biosynthesis essential for a functional skin permeability barrier

(2018) Benedikt Kien et al.   JOURNAL OF LIPID RESEARCH

Perilipins: a diversity of intracellular lipid droplet proteins

(2017) Hiroyuki Itabe et al.   Lipids in Health and Disease

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

(2017) D. Tavian et al.   MOLECULAR GENETICS AND METABOLISM

Lipid droplets and liver disease: from basic biology to clinical implications

(2017) Nina L. Gluchowski et al.   Nature Reviews Gastroenterology & Hepatology

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

(2017) Sara Missaglia et al.   NEUROMUSCULAR DISORDERS

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

(2017) Elena Maria Pennisi et al.   Orphanet Journal of Rare Diseases

Inhibition of intracellular lipolysis promotes human cancer cell adaptation to hypoxia

(2017) Xiaodong Zhang et al.   eLife

Muscle Lipid Metabolism: Role of Lipid Droplets and Perilipins

(2017) Pablo Esteban Morales et al.   Journal of Diabetes Research

Lipid droplet dynamics in skeletal muscle

(2016) Madeleen Bosma   EXPERIMENTAL CELL RESEARCH

Chanarin Dorfman syndrome: a case report with novel nonsense mutation

(2016) Neerja Gupta et al.   GENE

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

(2016) Maria Barbara Pasanisi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Lipid droplets go nuclear

(2016) Robert V. Farese et al.   JOURNAL OF CELL BIOLOGY

Neutral lipid-storage disease with myopathy and extended phenotype with novelPNPLA2mutation

(2016) Roberto Massa et al.   MUSCLE & NERVE

Targeting Fat: Mechanisms of Protein Localization to Lipid Droplets

(2016) Nora Kory et al.   TRENDS IN CELL BIOLOGY

Nuclear Perilipin 5 integrates lipid droplet lipolysis with PGC-1α/SIRT1-dependent transcriptional regulation of mitochondrial function

(2016) Violeta I. Gallardo-Montejano et al.   Nature Communications

Hepatic Retinyl Ester Hydrolases and the Mobilization of Retinyl Ester Stores

(2016) Lukas Grumet et al.   Nutrients

Morphologically and Functionally Distinct Lipid Droplet Subpopulations

(2016) Shuyan Zhang et al.   Scientific Reports

Characterization of lipid droplets in steroidogenic MLTC-1 Leydig cells: Protein profiles and the morphological change induced by hormone stimulation

(2015) Tomohiro Yamaguchi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Glial Lipid Droplets and ROS Induced by Mitochondrial Defects Promote Neurodegeneration

(2015) Lucy Liu et al.   CELL

Expanding Roles for Lipid Droplets

(2015) Michael A. Welte   CURRENT BIOLOGY

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

(2015) Banu Guzel Nur et al.   European Journal of Medical Genetics

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase

(2015) Masahiro Higashi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Heart Fat Infiltration In Subjects With and Without Coronary Artery Disease

(2015) Gloria Mazzali et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

(2015) Sara Missaglia et al.   MOLECULAR GENETICS AND METABOLISM

A myopathy with unusual features caused byPNPLA2gene mutations

(2015) Elena M. Pennisi et al.   MUSCLE & NERVE

Dengue Virus Uses a Non-Canonical Function of the Host GBF1-Arf-COPI System for Capsid Protein Accumulation on Lipid Droplets

(2015) Nestor G. Iglesias et al.   TRAFFIC

HIF2 -Dependent Lipid Storage Promotes Endoplasmic Reticulum Homeostasis in Clear-Cell Renal Cell Carcinoma

(2015) B. Qiu et al.   Cancer Discovery

Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes

(2015) Patrizia Dell’Era   World Journal of Stem Cells

Sequestration of fatty acids in triglycerides prevents endoplasmic reticulum stress in an in vitro model of cardiomyocyte lipotoxicity

(2014) Madeleen Bosma et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

(2014) Sara Missaglia et al.   BMC Medical Genetics

Adipose triglyceride lipase regulates eicosanoid production in activated human mast cells

(2014) Andrea Dichlberger et al.   JOURNAL OF LIPID RESEARCH

Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family

(2014) E. Gomez-Moyano et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review

(2014) Kimihiko Kaneko et al.   NEUROMUSCULAR DISORDERS

Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy

(2013) Ken-ichi Hirano et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Diacylglycerol Acyltransferase-1 Localizes Hepatitis C Virus NS5A Protein to Lipid Droplets and Enhances NS5A Interaction with the Viral Capsid Core

(2013) Gregory Camus et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lipidome analysis of rotavirus-infected cells confirms the close interaction of lipid droplets with viroplasms

(2013) E. R. Gaunt et al.   JOURNAL OF GENERAL VIROLOGY

The biophysics and cell biology of lipid droplets

(2013) Abdou Rachid Thiam et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Lipid Droplets and Cellular Lipid Metabolism

(2012) Tobias C. Walther et al.   Annual Review of Biochemistry

A Novel Mutation in PNPLA2 Leading to Neutral Lipid Storage Disease With Myopathy

(2012) Daniel B. Ash   ARCHIVES OF NEUROLOGY

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

(2012) Chiara Fiorillo et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

FAT SIGNALS - Lipases and Lipolysis in Lipid Metabolism and Signaling

(2012) Rudolf Zechner et al.   Cell Metabolism

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

(2012) Gustavo Tiscornia et al.   HUMAN MOLECULAR GENETICS

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

(2012) Daniela Tavian et al.   HUMAN MOLECULAR GENETICS

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy

(2012) Pengfei Lin et al.   JOURNAL OF HUMAN GENETICS

Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study

(2012) Pascal Laforêt et al.   MOLECULAR GENETICS AND METABOLISM

Accumulation of Polychlorinated Biphenyls in Adipocytes: Selective Targeting to Lipid Droplets and Role of Caveolin-1

(2012) Sophie Bourez et al.   PLoS One

iPS Cell Modeling of Cardiometabolic Diseases

(2012) Kenta Nakamura et al.   Journal of Cardiovascular Translational Research

Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseases

(2012) Hsiang-Po Huang et al.   Stem Cell Research & Therapy

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles

(2011) J. Chen et al.   CLINICAL NEUROPATHOLOGY

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells

(2011) Thomas Lemonnier et al.   HUMAN MOLECULAR GENETICS

The role of lipid droplets in metabolic disease in rodents and humans

(2011) Andrew S. Greenberg et al.   JOURNAL OF CLINICAL INVESTIGATION

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

(2011) Peter Reilich et al.   JOURNAL OF NEUROLOGY

Neutral Lipid Storage Disease with Unusual Presentation: Report of Three Cases

(2011) Smita Singh et al.   PEDIATRIC DERMATOLOGY

Generation of Human Melanocytes from Induced Pluripotent Stem Cells

(2011) Shigeki Ohta et al.   PLoS One

The Minimal Domain of Adipose Triglyceride Lipase (ATGL) Ranges until Leucine 254 and Can Be Activated and Inhibited by CGI-58 and G0S2, Respectively

(2011) Irina Cornaciu et al.   PLoS One

The dynamic roles of intracellular lipid droplets: from archaea to mammals

(2011) Denis J. Murphy   PROTOPLASMA

The G0/G1 Switch Gene 2 Regulates Adipose Lipolysis through Association with Adipose Triglyceride Lipase

(2010) Xingyuan Yang et al.   Cell Metabolism

Neutral Lipid Storage Leads to Acylceramide Deficiency, Likely Contributing to the Pathogenesis of Dorfman–Chanarin Syndrome

(2010) Yoshikazu Uchida et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

(2010) Hasan O. Akman et al.   NEUROMUSCULAR DISORDERS

Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene

(2010) Chiara Redaelli et al.   Orphanet Journal of Rare Diseases

Investigation and Functional Characterization of Rare Genetic Variants in the Adipose Triglyceride Lipase in a Large Healthy Working Population

(2010) Stefan Coassin et al.   PLoS Genetics

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5

(2009) Martina Schweiger et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

In vitro stereoselective hydrolysis of diacylglycerols by hormone-sensitive lipase

(2009) Jorge A. Rodriguez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

CGI-58 Is an α/β-Hydrolase within Lipid Transporting Lamellar Granules of Differentiated Keratinocytes

(2008) Masashi Akiyama et al.   AMERICAN JOURNAL OF PATHOLOGY

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

(2008) Filomena Campagna et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Adipose triglyceride lipase regulates basal lipolysis and lipid droplet size in adipocytes

(2008) Hideaki Miyoshi et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

The Lack of the C-Terminal Domain of Adipose Triglyceride Lipase Causes Neutral Lipid Storage Disease through Impaired Interactions with Lipid Droplets

(2008) Kunihisa Kobayashi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation

(2008) Anna Ronchetti et al.   JOURNAL OF HEPATOLOGY

Distal lipid storage myopathy due to PNPLA2 mutation

(2008) Aya Ohkuma et al.   NEUROMUSCULAR DISORDERS

Triglyceride Deposit Cardiomyovasculopathy

(2008) Ken-ichi Hirano et al.   NEW ENGLAND JOURNAL OF MEDICINE

Renal Involvement as a Rare Complication of Dorfman–Chanarin Syndrome: A Case Report

(2008) G. Aksu et al.   PEDIATRIC DERMATOLOGY

Neurons derived from reprogrammed fibroblasts functionally integrate into the fetal brain and improve symptoms of rats with Parkinson's disease

(2008) M. Wernig et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE

Combustion-Derived Hydrocarbons Localize to Lipid Droplets in Respiratory Cells

(2007) Gleeson Murphy et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY