Literature for peptidase C02.011: calpain-5

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

2020
1. Tang,P.H., Chemudupati,T., Wert,K.J., Folk,J.C., Mahajan,M., Tsang,S.H., Bassuk,A.G. and Mahajan,V.B.
   Phenotypic variance in calpain-5 retinal degeneration
   Am J Ophthalmol Case Rep18, 100627-100627. PubMed  Europe PubMed DOI  M
2018
2. Coomer,C.E. and Morris,A.C.
   Capn5 expression in the healthy and regenerating zebrafish retina
   Invest Ophthalmol Vis Sci59, 3643-3654. PubMed  Europe PubMed DOI  M
3. Velez,G., Bassuk,A.G., Schaefer,K.A., Brooks,B., Gakhar,L., Mahajan,M., Kahn,P., Tsang,S.H., Ferguson,P.J. and Mahajan,V.B.
   A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay
   Cold Spring Harb Mol Case Stud4, a002519-a002519. PubMed  Europe PubMed DOI  M
2016
4. Schaefer,K.A., Toral,M.A., Velez,G., Cox,A.J., Baker,S.A., Borcherding,N.C., Colgan,D.F., Bondada,V., Mashburn,C.B., Yu,C.G., Geddes,J.W., Tsang,S.H., Bassuk,A.G. and Mahajan,V.B.
   Calpain-5 expression in the retina localizes to photoreceptor synapses
   Invest Ophthalmol Vis Sci57, 2509-2521. PubMed  Europe PubMed DOI  M
2015
5. Wert,K.J., Bassuk,A.G., Wu,W.H., Gakhar,L., Coglan,D., Mahajan,M., Wu,S., Yang,J., Lin,C.S., Tsang,S.H. and Mahajan,V.B.
   CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model
   Hum Mol Genet24, 4584-4598. PubMed  Europe PubMed DOI  M
2014
6. Wert,K.J., Skeie,J.M., Bassuk,A.G., Olivier,A.K., Tsang,S.H. and Mahajan,V.B.
   Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina
   Hum Mol Genet23, 2665-2677. PubMed  Europe PubMed DOI  M
2007
7. [YEAR:16-1-2007]Saez,M.E., Martinez-Larrad,M.T., Ramirez-Lorca,R., Gonzalez-Sanchez,J.L., Zabena,C., Martinez-Calatrava,M.J., Gonzalez,A., Moron,F.J., Ruiz,A. and Serrano-Rios,M.
   Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
   BMC Med Genet8, 1-1. PubMed  Europe PubMed DOI  M
2006
8. [YEAR:5-1-2006]Gonzalez,A., Saez,M.E., Aragon,M.J., Galan,J.J., Vettori,P., Molina,L., Rubio,C., Real,L.M., Ruiz,A. and Ramirez-Lorca,R.
   Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome
   Hum Reprod21, 943-951. PubMed  Europe PubMed DOI  M