Zobrazeno 1 - 10
of 77
pro vyhledávání: '"John C. Sparrow"'
Autor:
Anja Katzemich, Kevin Leonard, John C. Sparrow, Christopher J. H. Elliott, Zacharias Orfanos, Belinda Bullard
Publikováno v:
Journal of Molecular Biology. 427:2151-2158
The Drosophila indirect flight muscles (IFM) can be used as a model for the study of sarcomere assembly. Here we use a transgenic line with a green fluorescent protein (GFP) exon inserted into the Z-disc-proximal portion of sallimus (Sls), also known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e566acc58a3b9fd62e68f2807105e2
https://doi.org/10.1016/j.jmb.2015.04.003
https://doi.org/10.1016/j.jmb.2015.04.003
Autor:
Mohammed Aiyaz, Upendra Nongthomba, Prabodh Kumar, Divesh Thimmaiya, Aditi Madan, John C. Sparrow, Ari Franco-Cea
Publikováno v:
Gene. 631
Muscle contraction is a highly fine-tuned process that requires the precise and timely construction of large protein sub-assemblies to form sarcomeres. Mutations in many genes encoding constituent proteins of this macromolecular machine result in def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec6f7d6d6d6e3d5ba740e3f17af31b20
https://pubmed.ncbi.nlm.nih.gov/28739398
https://pubmed.ncbi.nlm.nih.gov/28739398
Publikováno v:
Neuromuscular Disorders. 23:243-255
Over 190 mutations in the human skeletal muscle α-actin gene, ACTA1 cause congenital actin myopathies. We transgenically expressed six different mutant actins, G15R, I136M, D154N, V163L, V163M and D292V in Drosophila indirect flight muscles and inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d5045e5ffbb9eb63e0e9ddec3948b3
https://doi.org/10.1016/j.nmd.2012.11.013
https://doi.org/10.1016/j.nmd.2012.11.013
Autor:
Francesco Muntoni, Adnan Y. Manzur, S. Lillis, G. Ravenscroft, John C. Sparrow, Ros Quinlivan, Massimiliano Memo, Steve Marston, Rakesh Kumar Jain, Nigel G. Laing, Waney Squier, Kristen J. Nowak, Sandeep Jayawant, Heinz Jungbluth, Caroline Sewry
Publikováno v:
Neurology. 78:1100-1103
Nemaline myopathy, known to be caused by mutations in 7 genes, including skeletal muscle α-actin ( ACTA1 ),1 is characterized by muscle weakness, hypotonia, and nemaline rods in muscle biopsy. Here we report a patient with nemaline rods but the oppo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d508394f63ceacea4199f1a714b9ab9
https://doi.org/10.1212/wnl.0b013e31824e8ebe
https://doi.org/10.1212/wnl.0b013e31824e8ebe
Autor:
John C. Sparrow, Upendra Nongthomba, David Goulding, Sheetal S. Salvi, Meg Stark, Belinda Bullard, Maria Sevdali, Jonathan D. Clayton, Sarah E. Haigh
Publikováno v:
Neuromuscular Disorders. 20:363-374
Most human ACTA1 skeletal actin gene mutations cause dominant, congenital myopathies often with severely reduced muscle function and neonatal mortality. High sequence conservation of actin means many mutated ACTA1 residues are identical to those in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8632932a13d0710ce042b72566515cb
https://doi.org/10.1016/j.nmd.2010.03.008
https://doi.org/10.1016/j.nmd.2010.03.008
Autor:
Michelle Peckham, David O. Hutchinson, Valentina A. Valova, Phillip J. Robinson, Sandra T. Cooper, Ana Domazetovska, Aurelie Vandebrouck, Biljana Ilkovski, Kathryn N. North, Vikash Kumar, John C. Sparrow
Publikováno v:
Annals of Neurology. 62:597-608
Objective Mutations in the α-skeletal actin gene (ACTA1) result in a variety of inherited muscle disorders characterized by different pathologies and variable clinical phenotypes. Mutations at Val163 in ACTA1 result in pure intranuclear rod myopathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::333ef95d220bb19e0c16f02358905237
https://doi.org/10.1002/ana.21200
https://doi.org/10.1002/ana.21200
Publikováno v:
Genetics. 177:295-306
During myofibrillogenesis, many muscle structural proteins assemble to form the highly ordered contractile sarcomere. Mutations in these proteins can lead to dysfunctional muscle and various myopathies. We have analyzed the Drosophila melanogaster tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5328ac41410c6b07ae35947485bc0ce
https://doi.org/10.1534/genetics.106.056812
https://doi.org/10.1534/genetics.106.056812
Publikováno v:
Fly. 1:68-74
We have developed a novel apparatus, an ergometer, to simultaneously measure the horizontal and vertical components of the work done during takeoff by the fruitfly, Drosophila. We confirm the anatomical prediction that all the work comes from the mid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::844d678f464b71978dde86921c65c4f3
https://doi.org/10.4161/fly.3979
https://doi.org/10.4161/fly.3979
Autor:
Anja Katzemich, John C. Sparrow, Ryan J. H. West, Belinda Bullard, Sean T. Sweeney, Atsushi Fukuzawa, Mathias Gautel
Publikováno v:
Journal of Cell Science.
Drosophila obscurin (Unc-89) is a titin-like protein in the M-line of the muscle sarcomere. Obscurin has two kinase domains near the C-terminus, both of which are predicted to be inactive. We have identified proteins binding to the kinase domains. Ki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::360f66d84235dca41ab4c1568bd21e33
https://doi.org/10.1242/jcs.170639
https://doi.org/10.1242/jcs.170639
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
In Drosophila melanogaster two high molecular weight tropomyosin isoforms, historically named heavy troponins (TnH-33 and TnH-34), are encoded by the Tm1 tropomyosin gene. They are specifically expressed in the indirect flight muscles (IFM). Their N-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0a53a06a240de0b3df0d9cffac6215a
https://doi.org/10.1007/s10974-005-9044-3
https://doi.org/10.1007/s10974-005-9044-3