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We describe a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay associated with a novel, de novo CAPN5 missense mutation (c.865C>T, p.Arg289Trp) that shows greater hyperactivation of the calpain protease, indicating a genotype-phenotype correlation.
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Capn5 may play a role in CNS development, photoreceptor maintenance, and photoreceptor regeneration.
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The novel CAPN5 mutation (p.R289W) is responsible for the present autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) family. The mutant CAPN5 stimulated secretion and cleavage of SLIT2 fragments that may act as a bystander to regulate abnormal RPE cell proliferation for ADNIV.
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Our findings reveal a comprehensive CD81 network in human liver cells and show that hepatitis C virus and Plasmodium highjack selective CD81 interactions, including CAPN5 and CBLB for hepatitis C virus, to invade cells.
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The relative domain rotation of 60-100 degrees we found for mini-calpain-5 (a non-classical calpain) is significantly greater than the largest rotation previously observed for a classical calpain
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CAPN5 localization at the photoreceptor synapse and with mitochondria explains the neural circuitry phenotype in human CAPN5 disease alleles.
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A novel CAPN5 (c.750G>T, p.Lys250Asn) missense mutation causes uveitis and neovascular retinal detachment.
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CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation
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CAPN5 expression can be suppressed by shRNA-based RNA interference
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autosomal dominant neovascular inflammatory vitreoretinopathy is due to CAPN5 gain-of-function rather than haploinsufficiency.
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Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
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Results describe the cloning and characterization of rat calpain-5, which is highly homologous to human and mouse sequences.
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CAPN5 polymorphisms are associated with a risk of polycystic ovary syndrome.
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CAPN5 seems to influence traits related to increased risk for cardiovascular diseases and play a role as a candidate gene for metabolic syndrome
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We have found significant interaction between CAPN5 and PPARD genes that reduces risk for obesity in 55%. CAPN5 and PPARD gene products may also interact in vivo.
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Data examine possible allelic imbalance in papillary thyroid cancer at EMSY, CAPN5, and PAK1, as candidate genes within 11q13.5-q14 region using a single nucleotide polymorphism-based analysis.
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Calpain5 was expressed in endometrial stromal and glandular cells throughout the menstrual cycle and in decidua, and its expression was decreased in both stromal and glandular cells from women with endometriosis compared with that of fertile controls.
