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Article

Progressive degeneration of the retina in Loxl3 mutant mouse model of Stickler syndrome.

Developmental biology - 1 Mar 2023

Liu Ziyi, Mo Fan, Dong Xinyu, Chen Ge, Gao Jiangang, Zhang Jian

Abstract excerpt

Stickler syndrome is a multisystem collagenopathy with affected individuals exhibiting a high rate of ocular complications. Lysyl oxidase-like 3 (LOXL3) is a human disease gene candidate with a critical role in catalyzing collagen crosslinking. A homozygous missense variant of LOXL3 was reported in Stickler syndrome with severe myopia. However, the underlying mechanisms of the LOXL3 missense mutation that causes...

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Identifiers

PMID: 36610533
DOI: 10.1016/j.ydbio.2023.01.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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