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Article

Recapitulating familial hypercholesterolemia in a mouse model by knock-in patient-specific LDLR mutation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 31 Mar 2024

Liu Jing, Yang Fayu, Shang Lu, Cai Shuo, Wu Yuting, Liu Yingchun, Zhang Lifang, Fei Chenzhong, Wang Mi, Gu Feng

Abstract excerpt

Familial hypercholesterolemia (FH) is one of the most prevalent monogenetic disorders leading to cardiovascular disease (CVD) worldwide. Mutations in Ldlr, encoding a membrane-spanning protein, account for the majority of FH cases. No effective and safe clinical treatments are available for FH. Adenine base editor (ABE)-mediated molecular therapy is a promising therapeutic strategy to treat genetic diseases...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hyperlipoproteinemia Type II

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Share to Receptors, LDL

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Source

Identifiers

PMID: 38526846
DOI: 10.1096/fj.202301216RRR

Genes

FH
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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