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Select item 85887471.

The C2 domain of calpain 5 contributes to enzyme activation and membrane localization

Vimala Bondada, Jozsef Gal, Charles Mashburn, David W. Rodgers, Katherine E. Larochelle, Dorothy E. Croall, James W. Geddes

Biochim Biophys Acta Mol Cell Res. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Biochim Biophys Acta Mol Cell Res. 2021 Jun; 1868(7): 119019. Published online 2021 Mar 31. doi: 10.1016/j.bbamcr.2021.119019

PMCID:: PMC8588747

Abstract Article PDF–2.3M

Select item 70017642.

Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants

Gabriel Velez, Young Joo Sun, Saif Khan, Jing Yang, Jonathan Herrmann, Teja Chemudupati, Robert E. MacLaren, Lokesh Gakhar, Soichi Wakatsuki, Alexander G. Bassuk, Vinit B. Mahajan

Cell Rep. Author manuscript; available in PMC 2020 Feb 5.

Published in final edited form as: Cell Rep. 2020 Jan 21; 30(3): 881–892.e5. doi: 10.1016/j.celrep.2019.12.077

PMCID:: PMC7001764

Abstract Article PDF–2.8M

Select item 65275833.

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy

Gabriel Velez, Jing Yang, Angela S. Li, Stephen H. Tsang, Alexander G. Bassuk, Vinit B. Mahajan

Sci Rep. 2019; 9: 7608. Published online 2019 May 20. doi: 10.1038/s41598-019-44031-7

PMCID:: PMC6527583

Abstract Article PDF–3.3M

Select item 59831754.

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

Gabriel Velez, Alexander G. Bassuk, Kellie A. Schaefer, Brian Brooks, Lokesh Gakhar, MaryAnn Mahajan, Philip Kahn, Stephen H. Tsang, Polly J. Ferguson, Vinit B. Mahajan

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002519. doi: 10.1101/mcs.a002519

PMCID:: PMC5983175

Abstract Article PDF–16M

Select item 51180955.

Small-angle x-ray scattering of calpain-5 reveals a highly open conformation among calpains

Lokesh Gakhar, Alexander G. Bassuk, Gabriel Velez, Saif Khan, Jing Yang, Stephen H. Tsang, Vinit B. Mahajan

J Struct Biol. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: J Struct Biol. 2016 Dec; 196(3): 309–318. Published online 2016 Jul 27. doi: 10.1016/j.jsb.2016.07.017

PMCID:: PMC5118095

Abstract Article PDF–1.1M

Select item 43919186.

Structural Modeling of a Novel CAPN5 Mutation that Causes Uveitis and Neovascular Retinal Detachment

Bassuk Alexander G., Yeh Steven, Wu Shu, Martin Daniel F., Tsang Stephen H., Gakhar Lokesh, Mahajan Vinit B.

PLoS One. 2015; 10(4): e0122352. Published online 2015 Apr 9. doi: 10.1371/journal.pone.0122352

PMCID:: PMC4391918

Abstract Article PDF–2.3M

Select item 41697967.

CAPN5 gene silencing by short hairpin RNA interference

Nnamdi G Nelson, Jessica M Skeie, Hakim Muradov, Hannah A Rowell, Seongjin Seo, Vinit B Mahajan

BMC Res Notes. 2014; 7: 642. Published online 2014 Sep 12. doi: 10.1186/1756-0500-7-642

PMCID:: PMC4169796

Abstract Article PDF–777K

Select item 25177388.

The pathogenic activation of calpain: a marker and mediator of cellular toxicity and disease states

Peter W Vanderklish, Ben A Bahr

Int J Exp Pathol. 2000 Oct; 81(5): 323–339. doi: 10.1111/j.1365-2613.2000.00169.x

PMCID:: PMC2517738

Abstract Article PDF–208K

Select item 17836459.

Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels

María E Sáez, María T Martínez-Larrad, Reposo Ramírez-Lorca, José L González-Sánchez, Carina Zabena, María J Martinez-Calatrava, Alejandro González, Francisco J Morón, Agustín Ruiz, Manuel Serrano-Ríos

BMC Med Genet. 2007; 8: 1. Published online 2007 Jan 16. doi: 10.1186/1471-2350-8-1

PMCID:: PMC1783645

Abstract Article PDF–719K

Select item 451262810.

CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model

Katherine J. Wert, Alexander G. Bassuk, Wen-Hsuan Wu, Lokesh Gakhar, Diana Coglan, MaryAnn Mahajan, Shu Wu, Jing Yang, Chyuan-Sheng Lin, Stephen H. Tsang, Vinit B. Mahajan

Hum Mol Genet. 2015 Aug 15; 24(16): 4584–4598. Published online 2015 May 20. doi: 10.1093/hmg/ddv189

PMCID:: PMC4512628

Abstract Article PDF–1.7M

Select item 399016611.

Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina

Katherine J. Wert, Jessica M. Skeie, Alexander G. Bassuk, Alicia K. Olivier, Stephen H. Tsang, Vinit B. Mahajan

Hum Mol Genet. 2014 May 15; 23(10): 2665–2677. Published online 2013 Dec 30. doi: 10.1093/hmg/ddt661

PMCID:: PMC3990166

Abstract Article PDF–1.4M

Select item 346420512.

Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

Vinit B. Mahajan, Jessica M. Skeie, Alexander G. Bassuk, John H. Fingert, Terry A. Braun, Heather T. Daggett, James C. Folk, Val C. Sheffield, Edwin M. Stone

PLoS Genet. 2012 Oct; 8(10): e1003001. Published online 2012 Oct 4. doi: 10.1371/journal.pgen.1003001

PMCID:: PMC3464205

Abstract Article PDF–4.2M

Select item 273416113.

Calpain5 expression is decreased in endometriosis and regulated by HOXA10 in human endometrial cells

Ivan Penna, Hongling Du, Rui Ferriani, Hugh S. Taylor

Mol Hum Reprod. 2008 Oct; 14(10): 613–618. Published online 2008 Sep 30. doi: 10.1093/molehr/gan055

PMCID:: PMC2734161

Abstract Article PDF–1.0M

Select item 773606914.

Whole-Exome Sequencing of Patients with Posterior Segment Uveitis

Angela S. Li, Gabriel Velez, Benjamin Darbro, Marcus A. Toral, Jing Yang, Stephen H. Tsang, Polly J. Ferguson, James C. Folk, Alexander G. Bassuk, Vinit B. Mahajan

Am J Ophthalmol. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Am J Ophthalmol. 2021 Jan; 221: 246–259. Published online 2020 Jul 21. doi: 10.1016/j.ajo.2020.07.021

PMCID:: PMC7736069

Abstract Article PDF–2.4M

Select item 749342915.

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials

Katherine J. Wert, Susanne F. Koch, Gabriel Velez, Chun-Wei Hsu, MaryAnn Mahajan, Alexander G. Bassuk, Stephen H. Tsang, Vinit B. Mahajan

Hum Mutat. Author manuscript; available in PMC 2020 Sep 16.

Published in final edited form as: Hum Mutat. 2019 Dec; 40(12): 2377–2392. Published online 2019 Aug 26. doi: 10.1002/humu.23894

PMCID:: PMC7493429

Abstract Article PDF–2.0M

Select item 486810216.

Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses

Kellie A. Schaefer, Marcus A. Toral, Gabriel Velez, Allison J. Cox, Sheila A. Baker, Nicholas C. Borcherding, Diana F. Colgan, Vimala Bondada, Charles B. Mashburn, Chen-Guang Yu, James W. Geddes, Stephen H. Tsang, Alexander G. Bassuk, Vinit B. Mahajan

Invest Ophthalmol Vis Sci. 2016 May; 57(6): 2509–2521. Published online 2016 May 6. doi: 10.1167/iovs.15-18680

PMCID:: PMC4868102

Abstract Article PDF–2.0M

Select item 252730017.

Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity

María E Sáez, Antonio Grilo, Francisco J Morón, Luis Manzano, María T Martínez-Larrad, Antonio González-Pérez, Javier Serrano-Hernando, Agustín Ruiz, Reposo Ramírez-Lorca, Manuel Serrano-Ríos

Cardiovasc Diabetol. 2008; 7: 23. Published online 2008 Jul 25. doi: 10.1186/1475-2840-7-23

PMCID:: PMC2527300

Abstract Article PDF–300K

Select item 605442718.

Capn5 Expression in the Healthy and Regenerating Zebrafish Retina

Cagney E. Coomer, Ann C. Morris

Invest Ophthalmol Vis Sci. 2018 Jul; 59(8): 3643–3654. doi: 10.1167/iovs.18-24278

PMCID:: PMC6054427

Abstract Article PDF–1.7M

Select item 412195719.

Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease

Leah C. Kottyan, Benjamin P. Davis, Joseph D. Sherrill, Kan Liu, Mark Rochman, Kenneth Kaufman, Matthew T. Weirauch, Samuel Vaughn, Sara Lazaro, Andrew M. Rupert, Mojtaba Kohram, Emily M. Stucke, Katherine A. Kemme, Albert Magnusen, Hua He, Phillip Dexheimer, Mirna Chehade, Robert A. Wood, Robbie D. Pesek, Brian P. Vickery, David M. Fleischer, Robert Lindbad, Hugh A. Sampson, Vince Mukkada, Phil E. Putnam, J. Pablo Abonia, Lisa J. Martin, John B. Harley, Marc E. Rothenberg

Nat Genet. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Nat Genet. 2014 Aug; 46(8): 895–900. Published online 2014 Jul 13. doi: 10.1038/ng.3033

PMCID:: PMC4121957

Abstract Article PDF–832K

Select item 286953720.

Family-Based Analysis of Candidate Genes for Polycystic Ovary Syndrome

Kathryn G. Ewens, Douglas R. Stewart, Wendy Ankener, Margrit Urbanek, Jan M. McAllister, Chen Chen, K. Maravet Baig, Stephen C. J. Parker, Elliot H. Margulies, Richard S. Legro, Andrea Dunaif, Jerome F. Strauss, III, Richard S. Spielman

J Clin Endocrinol Metab. 2010 May; 95(5): 2306–2315. Published online 2010 Mar 3. doi: 10.1210/jc.2009-2703

PMCID:: PMC2869537

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