| Role of calpain-5 in cerebral ischemia and reperfusion injury. | Role of calpain-5 in cerebral ischemia and reperfusion injury.
Chukai Y, Ito G, Miki Y, Wakabayashi K, Itoh K, Sugano E, Tomita H, Fukuda T, Ozaki T. | 12/22/2023 |
| Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series. | Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series.
Xia FJ, Lyu J, Zhang X, Fei P, Zhao PQ. | 12/3/2023 |
| Mitochondrial calpain-5 truncates caspase-4 during endoplasmic reticulum stress. | Mitochondrial calpain-5 truncates caspase-4 during endoplasmic reticulum stress.
Chukai Y, Ito G, Konno M, Sakata Y, Ozaki T. | 05/14/2022 |
| The C2 domain of calpain 5 contributes to enzyme activation and membrane localization. | The C2 domain of calpain 5 contributes to enzyme activation and membrane localization.
Bondada V, Gal J, Mashburn C, Rodgers DW, Larochelle KE, Croall DE, Geddes JW., Free PMC Article | 10/2/2021 |
| Characterization of mitochondrial calpain-5. | Characterization of mitochondrial calpain-5.
Chukai Y, Iwamoto T, Itoh K, Tomita H, Ozaki T. | 09/18/2021 |
| Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants. | Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.
Velez G, Sun YJ, Khan S, Yang J, Herrmann J, Chemudupati T, MacLaren RE, Gakhar L, Wakatsuki S, Bassuk AG, Mahajan VB., Free PMC Article | 03/20/2021 |
| Whole-Exome Sequencing of Patients With Posterior Segment Uveitis. | Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
Li AS, Velez G, Darbro B, Toral MA, Yang J, Tsang SH, Ferguson PJ, Folk JC, Bassuk AG, Mahajan VB., Free PMC Article | 02/2/2021 |
| Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy. | Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.
Velez G, Yang J, Li AS, Tsang SH, Bassuk AG, Mahajan VB., Free PMC Article | 10/24/2020 |
| Study found 22 loss-of-function (LOF) CAPN5 variants located throughout the gene and in all major protein domains. Structural modeling of coding variants showed these LOF variants were nearby known vitreoretinopathy-causing variants within the proteolytic core and in regions of high homology between human CAPN5 and 150 homologs, yet the LOF of CAPN5 was tolerated as opposed to gain-of-function disease-causing variants. | CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.
Wert KJ, Koch SF, Velez G, Hsu CW, Mahajan M, Bassuk AG, Tsang SH, Mahajan VB., Free PMC Article | 05/9/2020 |
| 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. | A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Velez G, Bassuk AG, Schaefer KA, Brooks B, Gakhar L, Mahajan M, Kahn P, Tsang SH, Ferguson PJ, Mahajan VB., Free PMC Article | 04/27/2019 |
| Capn5 may play a role in CNS development, photoreceptor maintenance, and photoreceptor regeneration. | Capn5 Expression in the Healthy and Regenerating Zebrafish Retina.
Coomer CE, Morris AC., Free PMC Article | 03/16/2019 |
| 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. | Photoreceptor Cell-Derived CAPN5 Regulates Retinal Pigment Epithelium Cell Proliferation Through Direct Regulation of SLIT2 Cleavage.
Wang Y, Li H, Zang S, Li F, Chen Y, Zhang X, Song Z, Peng Q, Gu F. | 02/2/2019 |
| 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. | Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
Bruening J, Lasswitz L, Banse P, Kahl S, Marinach C, Vondran FW, Kaderali L, Silvie O, Pietschmann T, Meissner F, Gerold G., Free PMC Article | 01/19/2019 |
| 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 | Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.
Gakhar L, Bassuk AG, Velez G, Khan S, Yang J, Tsang SH, Mahajan VB., Free PMC Article | 12/23/2017 |
| CAPN5 localization at the photoreceptor synapse and with mitochondria explains the neural circuitry phenotype in human CAPN5 disease alleles. | Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Schaefer KA, Toral MA, Velez G, Cox AJ, Baker SA, Borcherding NC, Colgan DF, Bondada V, Mashburn CB, Yu CG, Geddes JW, Tsang SH, Bassuk AG, Mahajan VB., Free PMC Article | 06/24/2017 |
| A novel CAPN5 (c.750G>T, p.Lys250Asn) missense mutation causes uveitis and neovascular retinal detachment. | Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Bassuk AG, Yeh S, Wu S, Martin DF, Tsang SH, Gakhar L, Mahajan VB., Free PMC Article | 04/9/2016 |
| CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation | CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.
Wert KJ, Bassuk AG, Wu WH, Gakhar L, Coglan D, Mahajan M, Wu S, Yang J, Lin CS, Tsang SH, Mahajan VB., Free PMC Article | 04/9/2016 |
| CAPN5 expression can be suppressed by shRNA-based RNA interference | CAPN5 gene silencing by short hairpin RNA interference.
Nelson NG, Skeie JM, Muradov H, Rowell HA, Seo S, Mahajan VB., Free PMC Article | 06/6/2015 |
| autosomal dominant neovascular inflammatory vitreoretinopathy is due to CAPN5 gain-of-function rather than haploinsufficiency. | Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Wert KJ, Skeie JM, Bassuk AG, Olivier AK, Tsang SH, Mahajan VB., Free PMC Article | 12/6/2014 |
| Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. | Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM., Free PMC Article | 03/23/2013 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) | Integrative predictive model of coronary artery calcification in atherosclerosis.
McGeachie M, Ramoni RL, Mychaleckyj JC, Furie KL, Dreyfuss JM, Liu Y, Herrington D, Guo X, Lima JA, Post W, Rotter JI, Rich S, Sale M, Ramoni MF., Free PMC Article | 04/7/2010 |
| 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. | Calpain5 expression is decreased in endometriosis and regulated by HOXA10 in human endometrial cells.
Penna I, Du H, Ferriani R, Taylor HS., Free PMC Article | 01/21/2010 |
| 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. | Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma.
Hidalgo M, Saez ME, Martinez-Tello FJ, Moron FJ, Ferrero-Herrero E, Labalde-Martinez M, Rigopoulou D, Ballestin-Carcavilla C, Ruiz A, Royo JL, Ramirez-Lorca R. | 01/21/2010 |
| 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. | Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity.
Sáez ME, Grilo A, Morón FJ, Manzano L, Martínez-Larrad MT, González-Pérez A, Serrano-Hernando J, Ruiz A, Ramírez-Lorca R, Serrano-Ríos M., Free PMC Article | 01/21/2010 |