Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Carol C. Gregorio"'
Autor:
Jessika B. Iwanski, Christopher T. Pappas, Rachel M. Mayfield, Gerrie P. Farman, Rebecca Ahrens-Nicklas, Jared M. Churko, Carol C. Gregorio
Publikováno v:
npj Regenerative Medicine, Vol 9, Iss 1, Pp 1-21 (2024)
Abstract Neonatal dilated cardiomyopathy (DCM) is a poorly understood muscular disease of the heart. Several homozygous biallelic variants in LMOD2, the gene encoding the actin-binding protein Leiomodin 2, have been identified to result in severe DCM
Externí odkaz:
https://doaj.org/article/d3e3b84a14fb40d49e229be1589d0e31
Autor:
Catalina Vasilescu, Mert Colpan, Tiina H. Ojala, Tuula Manninen, Aino Mutka, Kaisa Ylänen, Otto Rahkonen, Tuija Poutanen, Laura Martelius, Reena Kumari, Helena Hinterding, Virginia Brilhante, Simo Ojanen, Pekka Lappalainen, Juha Koskenvuo, Christopher J. Carroll, Velia M. Fowler, Carol C. Gregorio, Anu Suomalainen
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)
Abstract Familial cardiomyopathy in pediatric stages is a poorly understood presentation of heart disease in children that is attributed to pathogenic mutations. Through exome sequencing, we report a homozygous variant in tropomodulin 1 (TMOD1; c.565
Externí odkaz:
https://doaj.org/article/17f82ec28ec14b21ac18fe950a134c51
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-15 (2021)
Gregorio, Colpan and Iwanski characterize the role of cyclase-associated protein 2 (CAP2) in regulating the organization and dynamics of actin filaments within cardiomyocytes. They show that CAP2 depolymerizes and inhibits actin incorporation into th
Externí odkaz:
https://doaj.org/article/bde9cd3dca6f4dd298abb535d9836f9b
Autor:
Reiri Sono, Tania M. Larrinaga, Alden Huang, Frank Makhlouf, Xuedong Kang, Jonathan Su, Ryan Lau, Valerie A. Arboleda, Reshma Biniwale, Gregory A. Fishbein, Negar Khanlou, Ming-Sing Si, Gary M. Satou, Nancy Halnon, UCLA Congenital Heart Defects-BioCore Faculty, Glen S. Van Arsdell, Carol C. Gregorio, Stanly Nelson, Marlin Touma
Publikováno v:
Cells, Vol 12, Iss 11, p 1455 (2023)
As an essential component of the sarcomere, actin thin filament stems from the Z-disk extend toward the middle of the sarcomere and overlaps with myosin thick filaments. Elongation of the cardiac thin filament is essential for normal sarcomere matura
Externí odkaz:
https://doaj.org/article/1549951580934b4d81d7ef112d28c224
Autor:
Xin Sun, Swetansu K. Hota, Yu-Qing Zhou, Stefanie Novak, Dario Miguel-Perez, Danos Christodoulou, Christine E. Seidman, J. G. Seidman, Carol C. Gregorio, R. Mark Henkelman, Janet Rossant, Benoit G. Bruneau
Publikováno v:
Biology Open, Vol 7, Iss 1 (2018)
How chromatin-remodeling complexes modulate gene networks to control organ-specific properties is not well understood. For example, Baf60c (Smarcd3) encodes a cardiac-enriched subunit of the SWI/SNF-like BAF chromatin complex, but its role in heart d
Externí odkaz:
https://doaj.org/article/62d83786091c4b2c80877a1b569c4852
Autor:
Touma, Reiri Sono, Tania M. Larrinaga, Alden Huang, Frank Makhlouf, Xuedong Kang, Jonathan Su, Ryan Lau, Valerie A. Arboleda, Reshma Biniwale, Gregory A. Fishbein, Negar Khanlou, Ming-Sing Si, Gary M. Satou, Nancy Halnon, UCLA Congenital Heart Defects-BioCore Faculty UCLA Congenital Heart Defects-BioCore Faculty, Glen S. Van Arsdell, Carol C. Gregorio, Stanly Nelson, Marlin
Publikováno v:
Cells; Volume 12; Issue 11; Pages: 1455
As an essential component of the sarcomere, actin thin filament stems from the Z-disk extend toward the middle of the sarcomere and overlaps with myosin thick filaments. Elongation of the cardiac thin filament is essential for normal sarcomere matura
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::6ade808c3282b8412f87407fa3c4e917
Publikováno v:
The FEBS Journal. 289:6119-6131
Leiomodin is an important emerging regulator of thin filaments. As novel molecular, cellular, animal model, and human data accumulate, the mechanisms of its action become clearer. Structural studies played a significant part in understanding the func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77bce3fe18ee51dc7f9c57248676d3e7
https://doi.org/10.1111/febs.16128
https://doi.org/10.1111/febs.16128
Autor:
Garry E. Smith, Dmitri Tolkatchev, Cristina Risi, Madison Little, Carol C. Gregorio, Vitold E. Galkin, Alla S. Kostyukova
Publikováno v:
Protein Science. 31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7774da31a34b6be3108e64af9fe29a83
https://doi.org/10.1002/pro.4358
https://doi.org/10.1002/pro.4358
Autor:
Garry E, Smith, Dmitri, Tolkatchev, Cristina, Risi, Madison, Little, Carol C, Gregorio, Vitold E, Galkin, Alla S, Kostyukova
Publikováno v:
Protein science : a publication of the Protein Society. 31(7)
A transient increase in Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c84195ade0de35946a55ac3f177c6652
https://pubmed.ncbi.nlm.nih.gov/35762710
https://pubmed.ncbi.nlm.nih.gov/35762710
Autor:
Michaela Yuen, Lisa Worgan, Jessika Iwanski, Christopher T. Pappas, Himanshu Joshi, Jared M. Churko, Susan Arbuckle, Edwin P. Kirk, Ying Zhu, Tony Roscioli, Carol C. Gregorio, Sandra T. Cooper
Publikováno v:
European journal of human genetics : EJHG. 30(4)
Dilated cardiomyopathy (DCM) is characterized by cardiac enlargement and impaired ventricular contractility leading to heart failure. A single report identified variants in leiomodin-2 (LMOD2) as a cause of neonatally-lethal DCM. Here, we describe tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f6dd1a3e2ed80f1758b545dead4aa70
https://pubmed.ncbi.nlm.nih.gov/35082396
https://pubmed.ncbi.nlm.nih.gov/35082396