Zobrazeno 1 - 10
of 161
pro vyhledávání: '"Sanford I. Bernstein"'
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
Autor:
Jennifer A. Suggs, Girish C. Melkani, Bernadette M. Glasheen, Mia M. Detor, Anju Melkani, Nathan P. Marsan, Douglas M. Swank, Sanford I. Bernstein
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 6, Pp 761-771 (2017)
Individuals with inclusion body myopathy type 3 (IBM3) display congenital joint contractures with early-onset muscle weakness that becomes more severe in adulthood. The disease arises from an autosomal dominant point mutation causing an E706K substit
Externí odkaz:
https://doaj.org/article/0734f576d32c4449a6e56f15badb6a57
Publikováno v:
Journal of Biological Chemistry. 295:14522-14535
We investigated the biochemical and biophysical properties of one of the four alternative exon-encoded regions within the Drosophila myosin catalytic domain. This region is encoded by alternative exons 3a and 3b and includes part of the N-terminal β
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ed13609103219aa2fbbe41f76d8d59
https://doi.org/10.1074/jbc.ra120.014684
https://doi.org/10.1074/jbc.ra120.014684
Autor:
Adriana S, Trujillo, Karen H, Hsu, Meera C, Viswanathan, Anthony, Cammarato, Sanford I, Bernstein
Publikováno v:
International journal of molecular sciences. 23(5)
The myosin molecular motor interacts with actin filaments in an ATP-dependent manner to yield muscle contraction. Myosin heavy chain residue R369 is located within loop 4 at the actin-tropomyosin interface of myosin's upper 50 kDa subdomain. To probe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::77fe64986433fdf5847d7b35d58f4b53
https://pubmed.ncbi.nlm.nih.gov/35269675
https://pubmed.ncbi.nlm.nih.gov/35269675
Autor:
Thomas C. Irving, Karen H. Hsu, Anthony Cammarato, Meera C. Viswanathan, Joy T. Puthawala, Adriana S. Trujillo, Amy K. Loya, Sanford I. Bernstein, Douglas M. Swank
Publikováno v:
Molecular Biology of the Cell
Dilated cardiomyopathy (DCM), a life-threatening disease characterized by pathological heart enlargement, can be caused by myosin mutations that reduce contractile function. To better define the mechanistic basis of this disease, we employed the powe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad6472956514e2fb1a43b6e2b1882aa6
https://pubmed.ncbi.nlm.nih.gov/34081531
https://pubmed.ncbi.nlm.nih.gov/34081531
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
Autor:
Heng B Xie, Anthony Cammarato, Namakkal S Rajasekaran, Huali Zhang, Jennifer A Suggs, Ho-Chen Lin, Sanford I Bernstein, Ivor J Benjamin, Kent G Golic
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003544 (2013)
Dominant mutations in the alpha-B crystallin (CryAB) gene are responsible for a number of inherited human disorders, including cardiomyopathy, skeletal muscle myopathy, and cataracts. The cellular mechanisms of disease pathology for these disorders a
Externí odkaz:
https://doaj.org/article/4789041d94c142bda94469f8185de730
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