Article

Deficiency in <i>Lyst</i> function leads to accumulation of secreted proteases and predisposition to mechanic stress-induced retinal detachment

2021-07-24

Abstract excerpt

<h4>ABSTRACT</h4> Chediak–Higashi syndrome, caused by mutations in the Lys osome T rafficking Regulator ( Lyst ) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement of lysosomes and lysosome-related organelles. Although recent studies have suggested that Lyst mutations impair the regulation of sizes of lyso...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a5d15936-7b4e-5fc0-a9a3-e83302f401ec
DOI: 10.1101/2021.07.23.453557

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Deficiency in <i>Lyst</i> function leads to accumulation of secreted proteases and predisposition to mechanic stress-induced retinal detachmentDOI 10.1101/2021.07.23.453557Read

Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes.Semantic proximity Read

Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes.Semantic proximity Read

The road to lysosome‐related organelles: Insights from Hermansky‐Pudlak syndrome and other rare diseasesSemantic proximity Read

TAZ ( <i>Wwtr1</i> ) deficiency leads to ER stress and mitochondrial dysfunction in a mouse model of Fuchs’ endothelial corneal dystrophySemantic proximity Read

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.Semantic proximity Read

A lysosomal tetraspanin associated with retinal degeneration identified via a genome-wide screen.Semantic proximity Read

Chediak-Higashi syndrome.Semantic proximity Read

Megalin deficiency perturbs retinal homeostasis and impairs cathepsin D processing and phagosome-lysosome maturation in the retinal pigment epitheliumSemantic proximity Read

Mice deficient in UXT exhibit retinitis pigmentosa-like features via aberrant autophagy activationSemantic proximity Read

Photoreceptor-induced RPE phagolysosomal maturation defects in Stargardt-like Maculopathy (STGD3).Semantic proximity Read

Tissue-specific modifier alleles determine <i>Mertk</i> loss-of-function traitsSemantic proximity Read

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.Semantic proximity Read