Identification and Optimization of a Minor Allele-Specific Small Interfering RNA to Prevent PNPLA3 I148M-Driven Nonalcoholic Fatty Liver Disease

Leveraging Human Genetics to Identify Potential New Treatments for Fatty Liver Disease

(2020) Stefano Romeo et al.   Cell Metabolism

Givosiran: First Approval

(2020) Lesley J. Scott   DRUGS

Effect of the patatin‐like phospholipase domain containing 3 gene ( PNPLA3 ) I148M polymorphism on the risk and severity of nonalcoholic fatty liver disease and metabolic syndromes: A meta‐analysis of paediatric and adolescent individuals

(2020) Jiaying Li et al.   Pediatric Obesity

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

Association of PNPLA3 rs738409 G/C gene polymorphism with nonalcoholic fatty liver disease in children: a meta-analysis

(2020) Shan Tang et al.   BMC Medical Genetics

Validating a non-invasive, ALT-based non-alcoholic fatty liver phenotype in the million veteran program

(2020) Marina Serper et al.   PLoS One

Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria

(2019) Eliane Sardh et al.   NEW ENGLAND JOURNAL OF MEDICINE

The current state and future directions of RNAi-based therapeutics

(2019) Ryan L. Setten et al.   NATURE REVIEWS DRUG DISCOVERY

Association between PNPLA3 rs738409 polymorphism and nonalcoholic fatty liver disease (NAFLD) susceptibility and severity

(2019) Guangrong Dai et al.   MEDICINE

Accumulation of PNPLA3 on lipid droplets is the basis of associated hepatic steatosis

(2019) Soumik BasuRay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pnpla3 silencing with antisense oligonucleotides ameliorates nonalcoholic steatohepatitis and fibrosis in Pnpla3 I148M knock-in mice

(2019) Daniel Lindén et al.   Molecular Metabolism

Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy

(2019) Elisa Giorgio et al.   BRAIN

A divalent siRNA chemical scaffold for potent and sustained modulation of gene expression throughout the central nervous system

(2019) Julia F. Alterman et al.   NATURE BIOTECHNOLOGY

Advanced siRNA Designs Further Improve In Vivo Performance of GalNAc-siRNA Conjugates

(2018) Donald J. Foster et al.   MOLECULAR THERAPY

Noninvasive biomarkers in NAFLD and NASH — current progress and future promise

(2018) Vincent Wai-Sun Wong et al.   Nature Reviews Gastroenterology & Hepatology

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Patisiran: First Global Approval

(2018) Sheridan M. Hoy   DRUGS

Gene-silencing technology gets first drug approval after 20-year wait

(2018) Heidi Ledford   NATURE

The PNPLA3 variant associated with fatty liver disease (I148M) accumulates on lipid droplets by evading ubiquitylation

(2017) Soumik BasuRay et al.   HEPATOLOGY

The chemical evolution of oligonucleotide therapies of clinical utility

(2017) Anastasia Khvorova et al.   NATURE BIOTECHNOLOGY

A Highly Durable RNAi Therapeutic Inhibitor of PCSK9

(2017) Kevin Fitzgerald et al.   NEW ENGLAND JOURNAL OF MEDICINE

Impact of enhanced metabolic stability on pharmacokinetics and pharmacodynamics of GalNAc–siRNA conjugates

(2017) Jayaprakash K. Nair et al.   NUCLEIC ACIDS RESEARCH

Impact of Oligonucleotide Structure, Chemistry, and Delivery Method on In Vitro Cytotoxicity

(2017) Maja M. Janas et al.   Nucleic Acid Therapeutics

TIMP-1 is upregulated, but not essential in hepatic fibrogenesis and carcinogenesis in mice

(2017) Nina D. Thiele et al.   Scientific Reports

Development of antibody-siRNA conjugate targeted to cardiac and skeletal muscles

(2016) Tsukasa Sugo et al.   JOURNAL OF CONTROLLED RELEASE

PNPLA3 gene in liver diseases

(2016) Eric Trépo et al.   JOURNAL OF HEPATOLOGY

Exposure to siRNA-GalNAc Conjugates in Systems of the Standard Test Battery for Genotoxicity

(2016) Maja M. Janas et al.   Nucleic Acid Therapeutics

Hepatocyte-Specific Delivery of siRNAs Conjugated to Novel Non-nucleosidic TrivalentN-Acetylgalactosamine Elicits Robust Gene Silencing in Vivo

(2015) Kallanthottathil G. Rajeev et al.   CHEMBIOCHEM

Therapy for Dominant Inherited Diseases by Allele-Specific RNA Interference: Successes and Pitfalls

(2015) Delphine Trochet et al.   CURRENT GENE THERAPY

Genetic Variants in the SAMM50 Gene Create Susceptibility to Nonalcoholic Fatty Liver Disease in a Chinese Han Population

(2015) Lizhen Chen et al.   Hepatitis Monthly

Association Between Patatin-Like Phospholipase Domain Containing 3 Gene (PNPLA3) Polymorphisms and Nonalcoholic Fatty Liver Disease: A HuGE Review and Meta-Analysis

(2015) Renfan Xu et al.   Scientific Reports

The Effect of PNPLA3 on Fibrosis Progression and Development of Hepatocellular Carcinoma: A Meta-analysis

(2014) Amit G Singal et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Pnpla3I148Mknockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis

(2014) Eriks Smagris et al.   HEPATOLOGY

The rs738409 (I148M) variant of thePNPLA3gene and cirrhosis: a meta-analysis

(2014) Jian-Hua Shen et al.   JOURNAL OF LIPID RESEARCH

Multivalent N-Acetylgalactosamine-Conjugated siRNA Localizes in Hepatocytes and Elicits Robust RNAi-Mediated Gene Silencing

(2014) Jayaprakash K. Nair et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

A novel measurement of allele discrimination for assessment of allele-specific silencing by RNA interference

(2014) Masaki Takahashi et al.   MOLECULAR BIOLOGY REPORTS

PNPLA3/adiponutrin functions in lipid droplet formation

(2013) Zeina Chamoun et al.   BIOLOGY OF THE CELL

Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan

(2013) Takuya Kitamoto et al.   HUMAN GENETICS

Chronic overexpression of PNPLA3I148M in mouse liver causes hepatic steatosis

(2012) John Zhong Li et al.   JOURNAL OF CLINICAL INVESTIGATION

Unique Gene-Silencing and Structural Properties of 2′-Fluoro-Modified siRNAs

(2011) Muthiah Manoharan et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease

(2011) Silvia Sookoian et al.   HEPATOLOGY

Diet-induced obesity affects expression of adiponutrin/PNPLA3 and adipose triglyceride lipase, two members of the same family

(2011) P Oliver et al.   INTERNATIONAL JOURNAL OF OBESITY

Expression and Characterization of a PNPLA3 Protein Isoform (I148M) Associated with Nonalcoholic Fatty Liver Disease

(2011) Yongcheng Huang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy

(2011) Haihui Liao et al.   PLoS One

Regulation of the promoter region of the human adiponutrin/PNPLA3 gene by glucose and insulin

(2010) Sharleen M. Rae-Whitcombe et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Patatin-like phospholipase domain-containing 3/adiponutrin deficiency in mice is not associated with fatty liver disease

(2010) Weiqin Chen et al.   HEPATOLOGY

The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life

(2010) Stefano Romeo et al.   JOURNAL OF HEPATOLOGY

Distinct regulation of adiponutrin/PNPLA3 gene expression by the transcription factors ChREBP and SREBP1c in mouse and human hepatocytes

(2010) Céline Dubuquoy et al.   JOURNAL OF HEPATOLOGY

Pnpla3/Adiponutrin deficiency in mice does not contribute to fatty liver disease or metabolic syndrome

(2010) Mahesh K. Basantani et al.   JOURNAL OF LIPID RESEARCH

A Biomarker Panel for Non-alcoholic Steatohepatitis (NASH) and NASH-Related Fibrosis

(2010) Zobair M. Younossi et al.   OBESITY SURGERY

A feed-forward loop amplifies nutritional regulation of PNPLA3

(2010) Yongcheng Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Sequence Variation (I148M) in PNPLA3 Associated with Nonalcoholic Fatty Liver Disease Disrupts Triglyceride Hydrolysis

(2009) Shaoqing He et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Variant in PNPLA3 is associated with alcoholic liver disease

(2009) Chao Tian et al.   NATURE GENETICS

Severe NAFLD with hepatic necroinflammatory changes in mice fed trans fats and a high-fructose corn syrup equivalent

(2008) Laura H. Tetri et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Chemically modified siRNA: tools and applications

(2008) J WATTS et al.   DRUG DISCOVERY TODAY

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

(2008) Stefano Romeo et al.   NATURE GENETICS