Zobrazeno 1 - 10
of 45
pro vyhledávání: '"William A. Kronert"'
Autor:
Yiming Guo, William A. Kronert, Karen H. Hsu, Alice Huang, Floyd Sarsoza, Kaylyn M. Bell, Jennifer A. Suggs, Douglas M. Swank, Sanford I. Bernstein
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-18 (2020)
Abstract Background Distal arthrogryposis (DA) is a group of autosomal dominant skeletal muscle diseases characterized by congenital contractures of distal limb joints. The most common cause of DA is a mutation of the embryonic myosin heavy chain gen
Externí odkaz:
https://doaj.org/article/4397c26e81354be48f32976393b896ee
Autor:
William A. Kronert, Karen H. Hsu, Aditi Madan, Floyd Sarsoza, Anthony Cammarato, Sanford I. Bernstein
Publikováno v:
Biology, Vol 11, Iss 8, p 1137 (2022)
The R249Q mutation in human β-cardiac myosin results in hypertrophic cardiomyopathy. We previously showed that inserting this mutation into Drosophila melanogaster indirect flight muscle myosin yields mechanical and locomotory defects. Here, we use
Externí odkaz:
https://doaj.org/article/8c3fb6e5983d42678b687bae17aff566
Publikováno v:
J Physiol
Key points Hypertrophic cardiomyopathy (HCM) is a genetic disease that causes thickening of the heart's ventricular walls and is a leading cause of sudden cardiac death. HCM is caused by missense mutations in muscle proteins including myosin, but how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13839d356929fb8b6826dca1472dedc7
https://doi.org/10.1113/jp277333
https://doi.org/10.1113/jp277333
Autor:
Sanford I. Bernstein, Floyd Sarsoza, Yiming Guo, Karen H. Hsu, William A. Kronert, Deepti Rao
Publikováno v:
Molecular Biology of the Cell
Using Drosophila melanogaster, we created the first animal models for myosin-based Freeman–Sheldon syndrome (FSS), a dominant form of distal arthrogryposis defined by congenital facial and distal skeletal muscle contractures. Electron microscopy of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::342edcf68f381288b724f6f60eb0aed3
https://doi.org/10.1091/mbc.e18-08-0526
https://doi.org/10.1091/mbc.e18-08-0526
Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome
Publikováno v:
Biophys J
Freeman-Sheldon syndrome (FSS) is characterized by congenital contractures resulting from dominant point mutations in the embryonic isoform of muscle myosin. To investigate its disease mechanism, we used Drosophila models expressing FSS myosin mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f0c175fe82faa594db6266b02b10eb
https://pubmed.ncbi.nlm.nih.gov/33524372
https://pubmed.ncbi.nlm.nih.gov/33524372
Autor:
Adriana S. Trujillo, William A. Kronert, Rick C. Tham, Sanford I. Bernstein, Meera C. Viswanathan, Anthony Cammarato, Floyd Sarsoza
Publikováno v:
Human Molecular Genetics. 26:4799-4813
Myosin storage myopathy (MSM) is a congenital skeletal muscle disorder caused by missense mutations in the β-cardiac/slow skeletal muscle myosin heavy chain rod. It is characterized by subsarcolemmal accumulations of myosin that have a hyaline appea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::059063fa88c48bb90cda56f063b4b25b
https://doi.org/10.1093/hmg/ddx359
https://doi.org/10.1093/hmg/ddx359
Publikováno v:
Journal of Biological Chemistry. 290:29270-29280
Our molecular modeling studies suggest a charge-dependent interaction between residues Glu-497 in the relay domain and Arg-712 in the converter domain of human β-cardiac myosin. To test the significance of this putative interaction, we generated tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abb510ca44c23dbc561027afd4011b9b
https://doi.org/10.1074/jbc.m115.681874
https://doi.org/10.1074/jbc.m115.681874
Autor:
Meera C. Viswanathan, Kaylyn M. Bell, Alice Huang, Sanford I. Bernstein, Anju Melkani, Girish C. Melkani, Anthony Cammarato, Adriana S. Trujillo, William A. Kronert, Douglas M. Swank
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8aea66ba4adab1b2d97080297e19367
https://doi.org/10.7554/elife.38064.025
https://doi.org/10.7554/elife.38064.025
Autor:
Sanford I. Bernstein, Anju Melkani, Girish C. Melkani, William A. Kronert, Douglas M. Swank, Anthony Cammarato, Adriana S. Trujillo, Meera C. Viswanathan, Kaylyn M. Bell, Alice Huang
Publikováno v:
eLife, Vol 7 (2018)
K146N is a dominant mutation in human β-cardiac myosin heavy chain, which causes hypertrophic cardiomyopathy. We examined howDrosophilamuscle responds to this mutation and integratively analyzed the biochemical, physiological and mechanical foundati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2428d0da797c9debffc2f9dadc9ec9d0
https://elifesciences.org/articles/38064
https://elifesciences.org/articles/38064
Autor:
William A, Kronert, Kaylyn M, Bell, Meera C, Viswanathan, Girish C, Melkani, Adriana S, Trujillo, Alice, Huang, Anju, Melkani, Anthony, Cammarato, Douglas M, Swank, Sanford I, Bernstein
Publikováno v:
eLife. 7
K146N is a dominant mutation in human β-cardiac myosin heavy chain, which causes hypertrophic cardiomyopathy. We examined how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0caa54162fae21a431c5f7ac06d61fe7
https://pubmed.ncbi.nlm.nih.gov/30222106
https://pubmed.ncbi.nlm.nih.gov/30222106