Using CRISPR/Cas9 to model human liver disease

Auger, Michèle; Furey, Nika; Johnson, Christina; Bissig, Karl‐Dimiter

doi:10.1016/j.jhepr.2019.09.002

Cited by 27 publications

(16 citation statements)

References 108 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…34,35 However, due to its simplicity, high efficiency, and easy customization, CRISPR/Cas9 is the gene editing tool of choice nowadays. [36][37][38][39] Several clinical trials using CRISPR/Cas9…”

Section: Administration Of Naked Genetic Materialsmentioning

confidence: 99%

Novel vectors and approaches for gene therapy in liver diseases

Maestro

Weber²,

Zabaleta

et al. 2021

JHEP Reports

View full text Add to dashboard Cite

This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

show abstract

Section: Administration Of Naked Genetic Materialsmentioning

confidence: 99%

Novel vectors and approaches for gene therapy in liver diseases

Maestro

Weber²,

Zabaleta

et al. 2021

JHEP Reports

View full text Add to dashboard Cite

show abstract

“…In order to investigate the mechanisms involved in innate and acquired intrahepatic cholestasis, BSEP knockout animal models (mice and rat) have been established [ 89 , 90 ]. Recently, the CRISPR/cas9 technology has been employed to knock out the BSEP gene in adult mice [ 91 , 92 ]. In all models, expression of BSEP was strongly reduced, thus providing an alternative experimental model for studying intrahepatic cholestasis and putative therapeutic intervention in rodents.…”

Section: Experimental Model Systemsmentioning

confidence: 99%

The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies

Sohail

Dönmez-Cakil

Szöllősi

et al. 2021

IJMS

View full text Add to dashboard Cite

The bile salt export pump (BSEP/ABCB11) is responsible for the transport of bile salts from hepatocytes into bile canaliculi. Malfunction of this transporter results in progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2) and intrahepatic cholestasis of pregnancy (ICP). Over the past few years, several small molecular weight compounds have been identified, which hold the potential to treat these genetic diseases (chaperones and potentiators). As the treatment response is mutation-specific, genetic analysis of the patients and their families is required. Furthermore, some of the mutations are refractory to therapy, with the only remaining treatment option being liver transplantation. In this review, we will focus on the molecular structure of ABCB11, reported mutations involved in cholestasis and current treatment options for inherited BSEP deficiencies.

show abstract

“…To date, CRISPR/Cas9 has been the most widely used genome editing because of its relative ease of use as well as its time-and cost-effectiveness. In this review, we mainly discuss CRISPR/Cas9-mediated NAFLD models [28].…”

Section: Nafld Models Generated Using Genome Editingmentioning

confidence: 99%

“…Although recent GWAS have identified genetic variants that are significantly associated with NAFLD, causal links between specific SNPs and NAFLD must be verified by functional analyses. Advances in genome-editing tools, particularly CRISPR/Cas9, have enabled the development of several in vitro and in vivo NAFLD models [28]. Representative CRISPR/Cas9-mediated NAFLD models are described below (Table 2).…”

Section: Crispr/cas9-mediated Nafld Modelsmentioning

confidence: 99%

Modeling Non-Alcoholic Fatty Liver Disease (NAFLD) Using “Good-Fit” Genome-Editing Tools

Kim

Shin

2020

Cells

View full text Add to dashboard Cite

Non-alcoholic fatty liver disease (NAFLD), which affects both adults and children, is the most common liver disorder worldwide. NAFLD is characterized by excess fat accumulation in the liver in the absence of significant alcohol use. NAFLD is strongly associated with obesity, insulin resistance, metabolic syndrome, as well as specific genetic polymorphisms. Severe NAFLD cases can further progress to cirrhosis, hepatocellular carcinoma (HCC), or cardiovascular complications. Here, we describe the pathophysiological features and critical genetic variants associated with NAFLD. Recent advances in genome-engineering technology have provided a new opportunity to generate in vitro and in vivo models that reflect the genetic abnormalities of NAFLD. We review the currently developed NAFLD models generated using clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9) genome editing. We further discuss unique features of CRISPR/Cas9 and Cas9 variants, including base editors and prime editor, that are useful for replicating genetic features specific to NAFLD. We also compare advantages and limitations of currently available methods for delivering genome-editing tools necessary for optimal genome editing. This review should provide helpful guidance for selecting “good fit” genome-editing tools and appropriate gene-delivery methods for the successful development of NAFLD models and clinical therapeutics.

show abstract

Using CRISPR/Cas9 to model human liver disease

Cited by 27 publications

References 108 publications

Novel vectors and approaches for gene therapy in liver diseases

Novel vectors and approaches for gene therapy in liver diseases

The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies

Modeling Non-Alcoholic Fatty Liver Disease (NAFLD) Using “Good-Fit” Genome-Editing Tools

Contact Info

Product

Resources

About