Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Christopher T Pappas"'
Publikováno v:
PLoS Genetics, Vol 20, Iss 5, p e1011279 (2024)
The leiomodin (Lmod) family of actin-binding proteins play a critical role in muscle function, highlighted by the fact that mutations in all three family members (LMOD1-3) result in human myopathies. Mutations in the cardiac predominant isoform, LMOD
Externí odkaz:
https://doaj.org/article/d1c4262a10d6440d8adc1049377bcc5b
Autor:
Lei Mi-Mi, Gerrie P Farman, Rachel M Mayfield, Joshua Strom, Miensheng Chu, Christopher T Pappas, Carol C Gregorio
Publikováno v:
PLoS ONE, Vol 15, Iss 1, p e0226138 (2020)
A novel cardiac-specific transgenic mouse model was generated to identify the physiological consequences of elongated thin filaments during post-natal development in the heart. Remarkably, increasing the expression levels in vivo of just one sarcomer
Externí odkaz:
https://doaj.org/article/2d90ecf9462448239a0553f27833ccd2
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
Autor:
Christopher T. Pappas, Vitold E. Galkin, William Schlecht, Alla S. Kostyukova, Thu Ly, Wen-Ji Dong, Dylan Johnson, Mert Colpan, Carol C. Gregorio
Publikováno v:
Molecular Biology of the Cell
Missense mutations K15N and R21H in striated muscle tropomyosin are linked to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), respectively. Tropomyosin, together with the troponin complex, regulates muscle contraction and, along w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf79e45f7b4893051ef004d4eb905dc
https://doi.org/10.1091/mbc.e18-06-0406
https://doi.org/10.1091/mbc.e18-06-0406
Autor:
John P. Konhilas, Gerrie P. Farman, Rachel M. Mayfield, Christopher T. Pappas, Carol C. Gregorio
Publikováno v:
Journal of Molecular and Cellular Cardiology. 122:88-97
Leiomodin-2 (Lmod2) is a striated muscle-specific actin binding protein that is implicated in assembly of thin filaments. The necessity of Lmod2 in the adult mouse and role it plays in the mechanics of contraction are unknown. To answer these questio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb1bdaa5c3b2c9e2af13320af214ec1
https://doi.org/10.1016/j.yjmcc.2018.08.009
https://doi.org/10.1016/j.yjmcc.2018.08.009
Autor:
Tania M. Larrinaga, Livija Medne, Chrystalle Katte Carreon, Justin H. Berger, Christopher T. Pappas, Chaya Murali, Ian D. Krantz, Kimberly Y. Lin, Carol C. Gregorio, Gerrie P. Farman, Alyssa Ritter, Rebecca C. Ahrens-Nicklas, Rachel M. Mayfield, Sabrina W. Yum
Publikováno v:
Science Advances. 5
Neonatal heart failure is a rare, poorly-understood presentation of familial dilated cardiomyopathy (DCM). Exome sequencing in a neonate with severe DCM revealed a homozygous nonsense variant in leiomodin 2 (LMOD2, p.Trp398*). Leiomodins (Lmods) are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d29182e56d3c3442dab96a65dba5913
https://doi.org/10.1126/sciadv.aax2066
https://doi.org/10.1126/sciadv.aax2066
Autor:
Rebecca C, Ahrens-Nicklas, Christopher T, Pappas, Gerrie P, Farman, Rachel M, Mayfield, Tania M, Larrinaga, Livija, Medne, Alyssa, Ritter, Ian D, Krantz, Chaya, Murali, Kimberly Y, Lin, Justin H, Berger, Sabrina W, Yum, Chrystalle Katte, Carreon, Carol C, Gregorio
Publikováno v:
Science Advances
Similarities between a mouse model and human patient informed diagnosis and management of a novel cause of dilated cardiomyopathy.
Neonatal heart failure is a rare, poorly-understood presentation of familial dilated cardiomyopathy (DCM). Exome s
Neonatal heart failure is a rare, poorly-understood presentation of familial dilated cardiomyopathy (DCM). Exome s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4d2ef4fb663226e8210f7bcb5b055b3f
https://pubmed.ncbi.nlm.nih.gov/31517052
https://pubmed.ncbi.nlm.nih.gov/31517052
Autor:
Christopher T. Pappas, Natalia Moroz, Alla S. Kostyukova, Dayton Wooldridge, Gregory L. Helms, Thu Ly, Rachel M. Mayfield, Stefanie M. Novak, Carol C. Gregorio, Dmitri Tolkatchev
Publikováno v:
Molecular Biology of the Cell
The precise arrangement of the N-terminal actin- and tropomyosin-binding sites within leiomodin-2 is determined. A novel model is given of the roles of leiomodin-2 at thin filament pointed ends.
Leiomodin is a potent actin nucleator related to t
Leiomodin is a potent actin nucleator related to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb06f8c934edb889803692dde93443df
https://doi.org/10.1091/mbc.e16-03-0200
https://doi.org/10.1091/mbc.e16-03-0200
Autor:
Nicol C. Voermans, Balázs Kiss, Eun Jeong Lee, Alan H. Beggs, Christopher T. Pappas, Carina Wallgren-Pettersson, Michaela Yuen, Sandra Donkervoort, Vandana Gupta, Nigel F. Clarke, Edoardo Malfatti, Ger J.M. Stienen, Barbara Joureau, Katarina Pelin, Norma B. Romero, Henk Granzier, Josine M. de Winter, Carol C. Gregorio, Carsten G. Bönnemann, Baziel G.M. van Engelen, Simon Edvardson, Vilma Lotta Lehtokari, Coen A.C. Ottenheijm
Publikováno v:
Annals of Neurology. 79:959-969
Nemaline myopathy and congenital fiber type disproportion are among the most common nondystrophic congenital muscular disorders.1 Genes that are implicated in these myopathies encode proteins that are either components of the skeletal muscle thin fil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9d47322ed45610b2984a90dd448f667
https://doi.org/10.1002/ana.24654
https://doi.org/10.1002/ana.24654
Publikováno v:
Journal of Experimental Biology. 219:146-152
Efficient muscle contraction in skeletal muscle is predicated on the regulation of actin filament lengths. In one long-standing model that was prominent for decades, the giant protein nebulin was proposed to function as a ‘molecular ruler’ to spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc48e1012fb4081d4baf0ed610cc2247
https://doi.org/10.1242/jeb.126383
https://doi.org/10.1242/jeb.126383