Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Tamar E. Sztal"'
Autor:
Rita J. Serrano, Clara Lee, Alon M. Douek, Jan Kaslin, Robert J. Bryson-Richardson, Tamar E. Sztal
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 3 (2022)
Cyclin-dependent kinase-like-5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodegenerative disease characterised by early-onset epileptic seizures, low muscle tone, progressive intellectual disability and severe motor function. CDD affec
Externí odkaz:
https://doaj.org/article/350b55da664c4c53a07704acd77dfab0
Autor:
Jessica R. Terrill, Corinne Huchet, Caroline Le Guiner, Aude Lafoux, Dorian Caudal, Ankita Tulangekar, Robert J. Bryson-Richardson, Tamar E. Sztal, Miranda D. Grounds, Peter G. Arthur
Publikováno v:
Metabolites, Vol 13, Iss 2, p 232 (2023)
Inflammation and oxidative stress are strongly implicated in the pathology of Duchenne muscular dystrophy (DMD), and the sulphur-containing amino acid taurine ameliorates both and decreases dystropathology in the mdx mouse model for DMD. We therefore
Externí odkaz:
https://doaj.org/article/73f0d61bc9a144188eaf04e1413481af
Autor:
Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-10 (2018)
Abstract Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are
Externí odkaz:
https://doaj.org/article/8cc6ba4097cf4c9bb514e650b9af4952
Autor:
Ankita Tulangekar, Tamar E. Sztal
Publikováno v:
Biomedicines, Vol 9, Iss 10, p 1366 (2021)
Duchenne muscular dystrophy (DMD) is a severe and progressive, X-linked, neuromuscular disorder caused by mutations in the dystrophin gene. In DMD, the lack of functional dystrophin protein makes the muscle membrane fragile, leaving the muscle fibers
Externí odkaz:
https://doaj.org/article/2d382837d42a4b16bff00c2476329c47
Autor:
Tamar E. Sztal, Ankita Tulangekar
Publikováno v:
Biomedicines
Biomedicines, Vol 9, Iss 1366, p 1366 (2021)
Biomedicines, Vol 9, Iss 1366, p 1366 (2021)
Duchenne muscular dystrophy (DMD) is a severe and progressive, X-linked, neuromuscular disorder caused by mutations in the dystrophin gene. In DMD, the lack of functional dystrophin protein makes the muscle membrane fragile, leaving the muscle fibers
Autor:
Rita J. Serrano, Clara Lee, Alon M. Douek, Jan Kaslin, Robert J. Bryson-Richardson, Tamar E. Sztal
Publikováno v:
Disease modelsmechanisms. 15(3)
Cyclin-dependent kinase-like-5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodegenerative disease characterised by early-onset epileptic seizures, low muscle tone, progressive intellectual disability and severe motor function. CDD affec
Cyclin-dependent kinase-like-5 (CDKL5) Deficiency Disorder (CDD) is a severe X-linked neurodegenerative disease characterized by early-onset epileptic seizures, low muscle tone, progressive intellectual disability, severe motor function and visual im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7875c7f5a12465eb90e70b2a8e5834a8
https://doi.org/10.1101/2021.04.07.438335
https://doi.org/10.1101/2021.04.07.438335
Autor:
Leonardo Nogara, Saskia Lassche, Jonne Doorduin, Norma B. Romero, Benno Küsters, Tamar E. Sztal, Baziel G.M. van Engelen, Balázs Kiss, Stefan Conijn, Josine M. de Winter, Coen A.C. Ottenheijm, Weikang Ma, Georg Ramm, Viola Oorschot, Joery P. Molenaar, Shengyi Shen, Christopher N. Johnson, Richard J. Rodenburg, Bert Blaauw, Robbert van der Pijl, Henk Granzier, Thomas E. Hall, Ken Campbell, Frank Li, Thomas C. Irving, Alan H. Beggs, Michaela Yuen, Reinier A. Boon, Manuela Marabita, Menne van Willigenburg, Esmee S.B. Van Kleef, Noelia Lozano-Vidal, Sylvia J. P. Bogaards, Robert J. Bryson-Richardson, Avnika A. Ruparelia, Dilson E. Rassier, Martijn van de Locht, Edoardo Malfatti, Malin Persson, Zherui Xiong, Nicol C. Voermans
Publikováno v:
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (2), pp.754-767. ⟨10.1172/JCI124000⟩
Journal of Clinical Investigation, 130, 2, pp. 754-767
J Clin Invest
Journal of Clinical Investigation, 130(2), 754-767. The American Society for Clinical Investigation
de Winter, J M, Molenaar, J P, Yuen, M, van der Pijl, R, Shen, S, Conijn, S, van de Locht, M, Willigenburg, M, Bogaards, S J P, van Kleef, E S, Lassche, S, Persson, M, Rassier, D E, Sztal, T E, Ruparelia, A A, Oorschot, V, Ramm, G, Hall, T E, Xiong, Z, Johnson, C N, Li, F, Kiss, B, Lozano-Vidal, N, Boon, R A, Marabita, M, Nogara, L, Blaauw, B, Rodenburg, R J, Küsters, B, Doorduin, J, Beggs, A H, Granzier, H, Campbell, K, Ma, W, Irving, T, Malfatti, E, Romero, N B, Bryson-Richardson, R J, van Engelen, B G M, Voermans, N C & Ottenheijm, C A C 2020, ' KBTBD13 is an actin-binding protein that modulates muscle kinetics ', Journal of Clinical Investigation, vol. 130, no. 2, pp. 754-767 . https://doi.org/10.1172/JCI124000
Journal of clinical investigation, 130(2), 754-767. The American Society for Clinical Investigation
Journal of Clinical Investigation, 130, 754-767
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (2), pp.754-767. ⟨10.1172/JCI124000⟩
Journal of Clinical Investigation, 130, 2, pp. 754-767
J Clin Invest
Journal of Clinical Investigation, 130(2), 754-767. The American Society for Clinical Investigation
de Winter, J M, Molenaar, J P, Yuen, M, van der Pijl, R, Shen, S, Conijn, S, van de Locht, M, Willigenburg, M, Bogaards, S J P, van Kleef, E S, Lassche, S, Persson, M, Rassier, D E, Sztal, T E, Ruparelia, A A, Oorschot, V, Ramm, G, Hall, T E, Xiong, Z, Johnson, C N, Li, F, Kiss, B, Lozano-Vidal, N, Boon, R A, Marabita, M, Nogara, L, Blaauw, B, Rodenburg, R J, Küsters, B, Doorduin, J, Beggs, A H, Granzier, H, Campbell, K, Ma, W, Irving, T, Malfatti, E, Romero, N B, Bryson-Richardson, R J, van Engelen, B G M, Voermans, N C & Ottenheijm, C A C 2020, ' KBTBD13 is an actin-binding protein that modulates muscle kinetics ', Journal of Clinical Investigation, vol. 130, no. 2, pp. 754-767 . https://doi.org/10.1172/JCI124000
Journal of clinical investigation, 130(2), 754-767. The American Society for Clinical Investigation
Journal of Clinical Investigation, 130, 754-767
International audience; The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8814b2daabcdfb84373f75468712d908
http://hdl.handle.net/11577/3321703
http://hdl.handle.net/11577/3321703
Publikováno v:
Investigative ophthalmologyvisual science. 60(14)
Purpose To compare the effects of reduced inhibitory neuron function in the retina across behavioral, physiological, and anatomical levels. Methods Inhibitory neurons were ablated in larval zebrafish retina. The Ptf1a gene, which determines inhibitor
Autor:
Nicholas J. Cole, Ophelia V. Ehrlich, Thomas E. Hall, Inken G. Huttner, Tamar E. Sztal, Mei Li, Carmen Sonntag, A.J. Wood, Peter D. Currie
Publikováno v:
NPJ Regenerative Medicine
npj Regenerative Medicine, Vol 4, Iss 1, Pp 1-13 (2019)
npj Regenerative Medicine, Vol 4, Iss 1, Pp 1-13 (2019)
Laminins comprise structural components of basement membranes, critical in the regulation of differentiation, survival and migration of a diverse range of cell types, including skeletal muscle. Mutations in one muscle enriched Laminin isoform, Lamini