Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

LncPLAAT3-AS Regulates PLAAT3-Mediated Adipocyte Differentiation and Lipogenesis in Pigs through miR-503-5p

(2023) Zhiming Wang et al.   Genes

Not Enough Fat: Mouse Models of Inherited Lipodystrophy

(2022) Soazig Le Lay et al.   Frontiers in Endocrinology

Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes

(2022) Jérémie Gautheron et al.   BMC Medicine

The biological actions of prostanoids in adipose tissue in physiological and pathophysiological conditions

(2022) Erkan Civelek et al.   PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS

PPARgamma in Metabolism, Immunity, and Cancer: Unified and Diverse Mechanisms of Action

(2021) Miguel Hernandez-Quiles et al.   Frontiers in Endocrinology

PPARγ and Diabetes: Beyond the Genome and Towards Personalized Medicine

(2021) Simona Cataldi et al.   Current Diabetes Reports

Organelle degradation in the lens by PLAAT phospholipases

(2021) Hideaki Morishita et al.   NATURE

Genetics of lipodystrophy syndromes

(2021) Isabelle Jéru   PRESSE MEDICALE

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

(2021) Jeremie Gautheron et al.   eLife

HMDB 5.0: the Human Metabolome Database for 2022

(2021) David S Wishart et al.   NUCLEIC ACIDS RESEARCH

SIV Infection and the HIV Proteins Tat and Nef Induce Senescence in Adipose Tissue and Human Adipose Stem Cells, Resulting in Adipocyte Dysfunction

(2020) Jennifer Gorwood et al.   Cells

Simple Peptide Quantification Approach for MS-Based Proteomics Quality Control

(2020) Teresa Mendes Maia et al.   ACS Omega

LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells

(2020) Camille Sollier et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Perilipin2 is an Earlier Marker Than Perilipin1 for Identifying Adipocyte Regeneration in Fat Grafts

(2020) Kaili Zhang et al.   Aesthetic Surgery Journal

What lipodystrophies teach us about the metabolic syndrome

(2019) Jake P. Mann et al.   JOURNAL OF CLINICAL INVESTIGATION

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

(2019) Daehwan Kim et al.   NATURE BIOTECHNOLOGY

Lipodystrophic syndromes: From diagnosis to treatment

(2019) Camille Sollier et al.   ANNALES D ENDOCRINOLOGIE

Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval

(2019) Emily A. King et al.   PLoS Genetics

Congenital forms of diabetes: the beta-cell and beyond

(2018) Lisa R Letourneau et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Proteome-wide identification of ubiquitin interactions using UbIA-MS

(2018) Xiaofei Zhang et al.   Nature Protocols

QCloud: A cloud-based quality control system for mass spectrometry-based proteomics laboratories

(2018) Cristina Chiva et al.   PLoS One

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

(2018) Emilie Capel et al.   Journal of Clinical Lipidology

Dynamics and functions of lipid droplets

(2018) James A. Olzmann et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Lipodystrophy Syndromes

(2016) Iram Hussain et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

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

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

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

StringTie enables improved reconstruction of a transcriptome from RNA-seq reads

(2015) Mihaela Pertea et al.   NATURE BIOTECHNOLOGY

Degradation of lipid droplet-associated proteins by chaperone-mediated autophagy facilitates lipolysis

(2015) Susmita Kaushik et al.   NATURE CELL BIOLOGY

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

Expression of Genes Related to Prostaglandin Synthesis or Signaling in Human Subcutaneous and Omental Adipose Tissue: Depot Differences and Modulation by Adipogenesis

(2014) Andréanne Michaud et al.   MEDIATORS OF INFLAMMATION

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

PPARγ and the global map of adipogenesis and beyond

(2014) Martina I. Lefterova et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

PPARγ signaling and metabolism: the good, the bad and the future

(2013) Maryam Ahmadian et al.   NATURE MEDICINE

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Structure/Function Relationships of Adipose Phospholipase A2Containing a Cys-His-His Catalytic Triad

(2012) Xiao-Yan Pang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

(2012) Pablo Cingolani et al.   Frontiers in Genetics

A metabolomics strategy for detecting protein–metabolite interactions to identify natural nuclear receptor ligands

(2011) Yun-Gon Kim et al.   Molecular BioSystems

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

KEGG for integration and interpretation of large-scale molecular data sets

(2011) M. Kanehisa et al.   NUCLEIC ACIDS RESEARCH

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

Characterization of the human tumor suppressors TIG3 and HRASLS2 as phospholipid-metabolizing enzymes

(2009) Toru Uyama et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

AdPLA ablation increases lipolysis and prevents obesity induced by high-fat feeding or leptin deficiency

(2009) Kathy Jaworski et al.   NATURE MEDICINE

Identification and Functional Characterization of Adipose-specific Phospholipase A2(AdPLA)

(2008) Robin E. Duncan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

HRASLS3 is a PPARγ-selective target gene that promotes adipocyte differentiation

(2008) Sarah Hummasti et al.   JOURNAL OF LIPID RESEARCH

The tumor suppressor gene H-Rev107 functions as a novel Ca2+-independent cytosolic phospholipase A1/2of the thiol hydrolase type

(2008) Toru Uyama et al.   JOURNAL OF LIPID RESEARCH