Search Results - "Sztal, Tamar E."

Transcriptional adaptation: a mechanism underlying genetic robustness by Sztal, Tamar E, Stainier, Didier Y R

“…Mutations play a crucial role in evolution as they provide the genetic variation that allows evolutionary change. Although some mutations in regulatory…”
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Inflammation in Duchenne Muscular Dystrophy–Exploring the Role of Neutrophils in Muscle Damage and Regeneration by Tulangekar, Ankita, Sztal, Tamar E.

“…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…”
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Fgf-dependent glial cell bridges facilitate spinal cord regeneration in zebrafish by Goldshmit, Yona, Sztal, Tamar E, Jusuf, Patricia R, Hall, Thomas E, Nguyen-Chi, Mai, Currie, Peter D

“…Adult zebrafish show a remarkable capacity to regenerate their spinal column after injury, an ability that stands in stark contrast to the limited repair that…”
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Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein by Sztal, Tamar E, McKaige, Emily A, Williams, Caitlin, Ruparelia, Avnika A, Bryson-Richardson, Robert J

“…The lack of a mutant phenotype in homozygous mutant individuals' due to compensatory gene expression triggered upstream of protein function has been identified…”
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Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish by Sztal, Tamar E, Ruparelia, Avnika A, Williams, Caitlin, Bryson-Richardson, Robert J

“…Zebrafish muscle development is highly conserved with mammalian systems making them an excellent model to study muscle function and disease. Many myopathies…”
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Novel preclinical model for CDKL5 deficiency disorder by Serrano, Rita J, Lee, Clara, Douek, Alon M, Kaslin, Jan, Bryson-Richardson, Robert J, Sztal, Tamar E

“…Cyclin-dependent kinase-like-5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodegenerative disease characterised by early-onset epileptic…”
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Muscle Pathology in Dystrophic Rats and Zebrafish Is Unresponsive to Taurine Treatment, Compared to the mdx Mouse Model for Duchenne Muscular Dystrophy by Terrill, Jessica R, Huchet, Corinne, Le Guiner, Caroline, Lafoux, Aude, Caudal, Dorian, Tulangekar, Ankita, Bryson-Richardson, Robert J, Sztal, Tamar E, Grounds, Miranda D, Arthur, Peter G

“…Inflammation and oxidative stress are strongly implicated in the pathology of Duchenne muscular dystrophy (DMD), and the sulphur-containing amino acid taurine…”
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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy by Sztal, Tamar E, McKaige, Emily A, Williams, Caitlin, Oorschot, Viola, Ramm, Georg, Bryson-Richardson, Robert J

“…Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in…”
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Immuno Correlative Light and Electron Microscopy on Tokuyasu Cryosections by Oorschot, Viola M.J., Sztal, Tamar E., Bryson-Richardson, Robert J., Ramm, Georg

“…Finding a rare structure by electron microscopy is the equivalent of finding a “needle in a haystack.” Correlative light- and immunoelectron microscopy (CLEM)…”
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Correspondence Between Behavioral, Physiological, and Anatomical Measurements of Visual Function in Inhibitory Neuron-Ablated Zebrafish by Xie, Jiaheng, Goodbourn, Patrick T, Bui, Bang V, Sztal, Tamar E, Jusuf, Patricia R

“…To compare the effects of reduced inhibitory neuron function in the retina across behavioral, physiological, and anatomical levels. Inhibitory neurons were…”
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Altered Visual Function in a Larval Zebrafish Knockout of Neurodevelopmental Risk Gene pdzk1 by Xie, Jiaheng, Jusuf, Patricia R, Bui, Bang V, Dudczig, Stefanie, Sztal, Tamar E, Goodbourn, Patrick T

“…The human PDZK1 gene is located in a genomic susceptibility region for neurodevelopmental disorders. A genome-wide association study identified links between…”
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KBTBD13 is an actin-binding protein that modulates muscle kinetics by de Winter, Josine M, Molenaar, Joery P, Yuen, Michaela, van der Pijl, Robbert, Shen, Shengyi, Conijn, Stefan, van de Locht, Martijn, Willigenburg, Menne, Bogaards, Sylvia Jp, van Kleef, Esmee Sb, Lassche, Saskia, Persson, Malin, Rassier, Dilson E, Sztal, Tamar E, Ruparelia, Avnika A, Oorschot, Viola, Ramm, Georg, Hall, Thomas E, Xiong, Zherui, Johnson, Christopher N, Li, Frank, Kiss, Balazs, Lozano-Vidal, Noelia, Boon, Reinier A, Marabita, Manuela, Nogara, Leonardo, Blaauw, Bert, Rodenburg, Richard J, Küsters, Benno, Doorduin, Jonne, Beggs, Alan H, Granzier, Henk, Campbell, Ken, Ma, Weikang, Irving, Thomas, Malfatti, Edoardo, Romero, Norma B, Bryson-Richardson, Robert J, van Engelen, Baziel Gm, Voermans, Nicol C, Ottenheijm, Coen Ac

“…The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired…”
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KBTBD13 is an actin-binding protein that modulates muscle kinetics by de Winter, Josine M, Molenaar, Joery P, Yuen, Michaela, van der Pijl, Robbert, Shen, Shengyi, Conijn, Stefan, van de Locht, Martijn, Willigenburg, Menne, Bogaards, Sylvia Jp, van Kleef, Esmee Sb, Lassche, Saskia, Persson, Malin, Rassier, Dilson E, Sztal, Tamar E, Ruparelia, Avnika A, Oorschot, Viola, Ramm, Georg, Hall, Thomas E, Xiong, Zherui, Johnson, Christopher N, Li, Frank, Kiss, Balazs, Lozano-Vidal, Noelia, Boon, Reinier A, Marabita, Manuela, Nogara, Leonardo, Blaauw, Bert, Rodenburg, Richard J, Küsters, Benno, Doorduin, Jonne, Beggs, Alan H, Granzier, Henk, Campbell, Ken, Ma, Weikang, Irving, Thomas, Malfatti, Edoardo, Romero, Norma B, Bryson-Richardson, Robert J, van Engelen, Baziel Gm, Voermans, Nicol C, Ottenheijm, Coen Ac

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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization by O’Grady, Gina L., Best, Heather A., Sztal, Tamar E., Schartner, Vanessa, Sanjuan-Vazquez, Myriam, Donkervoort, Sandra, Abath Neto, Osorio, Sutton, Roger Bryan, Ilkovski, Biljana, Romero, Norma Beatriz, Stojkovic, Tanya, Dastgir, Jahannaz, Waddell, Leigh B., Boland, Anne, Hu, Ying, Williams, Caitlin, Ruparelia, Avnika A., Maisonobe, Thierry, Peduto, Anthony J., Reddel, Stephen W., Lek, Monkol, Tukiainen, Taru, Cummings, Beryl B., Joshi, Himanshu, Nectoux, Juliette, Brammah, Susan, Deleuze, Jean-François, Ing, Viola Oorschot, Ramm, Georg, Ardicli, Didem, Nowak, Kristen J., Talim, Beril, Topaloglu, Haluk, Laing, Nigel G., North, Kathryn N., MacArthur, Daniel G., Friant, Sylvie, Clarke, Nigel F., Bryson-Richardson, Robert J., Bönnemann, Carsten G., Laporte, Jocelyn, Cooper, Sandra T.

“…This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the…”
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Analysis of RNA Expression in Adult Zebrafish Skeletal Muscle by Sztal, Tamar E, Currie, Peter D, Bryson-Richardson, Robert J

“…The zebrafish is an excellent vertebrate model system to investigate skeletal muscle development and disease. During early muscle formation the small size of…”
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L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy by Messineo, Adriana M., Gineste, Charlotte, Sztal, Tamar E., McNamara, Elyshia L., Vilmen, Christophe, Ogier, Augustin C., Hahne, Dorothee, Bendahan, David, Laing, Nigel G., Bryson-Richardson, Robert J., Gondin, Julien, Nowak, Kristen J.

“…L-tyrosine supplementation may provide benefit to nemaline myopathy (NM) patients, however previous studies are inconclusive, with no elevation of L-tyrosine…”
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Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function by Sztal, Tamar E., Zhao, Mo, Williams, Caitlin, Oorschot, Viola, Parslow, Adam C., Giousoh, Aminah, Yuen, Michaela, Hall, Thomas E., Costin, Adam, Ramm, Georg, Bird, Phillip I., Busch-Nentwich, Elisabeth M., Stemple, Derek L., Currie, Peter D., Cooper, Sandra T., Laing, Nigel G., Nowak, Kristen J., Bryson-Richardson, Robert J.

“…Nemaline myopathy is characterized by muscle weakness and the presence of rod-like (nemaline) bodies. The genetic etiology of nemaline myopathy is becoming…”
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Epistatic dissection of laminin―receptor interactions in dystrophic zebrafish muscle by SZTAL, Tamar E, SONNTAG, Carmen, HALL, Thomas E, CURIE, Peter D

“…Laminins form essential components of the basement membrane and are integral to forming and maintaining muscle integrity. Mutations in the human Laminin-alpha2…”
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Muscle Pathology in Dystrophic Rats and Zebrafish Is Unresponsive to Taurine Treatment, Compared to the Imdx/I Mouse Model for Duchenne Muscular Dystrophy by Terrill, Jessica R, Huchet, Corinne, Le Guiner, Caroline, Lafoux, Aude, Caudal, Dorian, Tulangekar, Ankita, Bryson-Richardson, Robert J, Sztal, Tamar E, Grounds, Miranda D, Arthur, Peter G

“…Inflammation and oxidative stress are strongly implicated in the pathology of Duchenne muscular dystrophy (DMD), and the sulphur-containing amino acid taurine…”
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Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish by Sztal, Tamar E., Ruparelia, Avnika A., Williams, Caitlin, Bryson-Richardson, Robert J.

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