Point mutations in the tri-helix bundle of the M-domain of cardiac myosin binding protein-C influence systolic duration and delay cardiac relaxation

Autor: Katia Touma, Samantha P. Harris, Kristina B. Kooiker, Stacy Mazzalupo, Sabine J. van Dijk, Nathaniel C. Napierski

Cardiac myosin binding protein-C (cMyBP-C) is an essential regulatory protein required for proper systolic contraction and diastolic relaxation. We previously showed that N′-terminal domains of cMyBP-C stimulate contraction by binding to actin and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e63b9f39c794e974843475110d60602
https://europepmc.org/articles/PMC5986616/

The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency

Autor: Mark D Kittleson, Kristina B. Kooiker, Debbie Mustacich, Yuanzhang Yang, Alla S. Kostyukova, Samantha P. Harris, Sabine J. van Dijk, Stacy Mazzalupo, Elaine Hoye, Joshua A. Stern

Publikováno v: Archives of biochemistry and biophysics, vol 601, iss 16
Van Dijk, SJ; Bezold Kooiker, K; Mazzalupo, S; Yang, Y; Kostyukova, AS; Mustacich, DJ; et al.(2016). The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency. Archives of Biochemistry and Biophysics, 601, 133-140. doi: 10.1016/j.abb.2016.01.006. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/2159w3mm

© 2016 Elsevier Inc. All rights reserved. Mutations in MYBPC3, the gene encoding cardiac myosin binding protein C (cMyBP-C), are a major cause of hypertrophic cardiomyopathy (HCM). While most mutations encode premature stop codons, missense mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eeda12357267209cf20305dcecb1e07
https://escholarship.org/uc/item/2159w3mm

Effective disposal of nitrogen waste in blood-fed Aedes aegypti mosquitoes requires alanine aminotransferase

Autor: Virginia Belloni, Patricia Y. Scaraffia, Stacy Mazzalupo, Jun Isoe

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 30(1)

To better understand the mechanisms responsible for the success of female mosquitoes in their disposal of excess nitrogen, we investigated the role of alanine aminotransferase (ALAT) in blood-fed Aedes aegypti. Transcript and protein levels from the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef27093c21957048e0caec2c9e25b44
https://pubmed.ncbi.nlm.nih.gov/26310269

Role for keratins 6 and 17 during wound closure in embryonic mouse skin

Autor: Paul Martin, Pierre A. Coulombe, Pauline Wong, Stacy Mazzalupo

Publikováno v: Developmental Dynamics. 226:356-365

Injury to adult skin triggers a response designed to restore its vital barrier function. A conserved aspect of this response is a rapid switch in gene expression whereby the type II keratin 6 (K6) and type I keratins 16 and 17 (K16, K17) are induced

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3612dc2773507a866f54355d53c3f4c
https://doi.org/10.1002/dvdy.10245

Crystal Structure of Human Squalene Synthase

Autor: Jayvardhan Pandit, Gayle K. Schulte, J Harold Harwood, Dennis E. Danley, John F. Thompson, Stacy Mazzalupo, Ernest M. Hamanaka, Thomas A. Pauly, Cheryl Myers Hayward

Publikováno v: Journal of Biological Chemistry. 275:30610-30617

Squalene synthase catalyzes the biosynthesis of squalene, a key cholesterol precursor, through a reductive dimerization of two farnesyl diphosphate (FPP) molecules. The reaction is unique when compared with those of other FPP-utilizing enzymes and pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::59454f405f7fe7b8950753abbc26d034
https://doi.org/10.1074/jbc.m004132200