Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study

Lysophospholipid acyltransferases

(2012) Anil K. Agarwal   CURRENT OPINION IN LIPIDOLOGY

Alterations in Lipid Signaling Underlie Lipodystrophy Secondary to AGPAT2 Mutations

(2012) A. R. Subauste et al.   DIABETES

Seipin: from human disease to molecular mechanism

(2012) Bethany R. Cartwright et al.   JOURNAL OF LIPID RESEARCH

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Human 1-Acylglycerol-3-phosphateO-Acyltransferase Isoforms 1 and 2

(2011) Anil K. Agarwal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lipodystrophies: Genetic and Acquired Body Fat Disorders

(2011) Abhimanyu Garg   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Lipodystrophy: pathophysiology and advances in treatment

(2010) Christina G. Fiorenza et al.   Nature Reviews Endocrinology

Pathology of Congenital Generalized Lipodystrophy in Agpat2–/– Mice

(2010) P. Vogel et al.   VETERINARY PATHOLOGY

Molecular Mechanisms of Hepatic Steatosis and Insulin Resistance in the AGPAT2-Deficient Mouse Model of Congenital Generalized Lipodystrophy

(2009) Víctor A. Cortés et al.   Cell Metabolism

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

RNA landscape of evolution for optimal exon and intron discrimination

(2008) C. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA