Search Results - "Moorwood, Catherine"

Caspase-12 ablation preserves muscle function in the mdx mouse by Moorwood, Catherine, Barton, Elisabeth R

“…Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by mutations in dystrophin. Several downstream consequences of dystrophin…”
Get full text

Isometric and eccentric force generation assessment of skeletal muscles isolated from murine models of muscular dystrophies by Moorwood, Catherine, Liu, Min, Tian, Zuozhen, Barton, Elisabeth R

“…Critical to the evaluation of potential therapeutics for muscular disease are sensitive and reproducible physiological assessments of muscle function. Because…”
Get full text

Translational regulation of utrophin by miRNAs by Basu, Utpal, Lozynska, Olga, Moorwood, Catherine, Patel, Gopal, Wilton, Steve D, Khurana, Tejvir S

“…Utrophin is the autosomal homolog of dystrophin, the product of the Duchenne Muscular Dystrophy (DMD) locus. Its regulation is of therapeutic interest as its…”
Get full text

Drug discovery for Duchenne muscular dystrophy via utrophin promoter activation screening by Moorwood, Catherine, Lozynska, Olga, Suri, Neha, Napper, Andrew D, Diamond, Scott L, Khurana, Tejvir S

“…Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by mutations in dystrophin, a muscle cytoskeletal protein. Utrophin is a…”
Get full text

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures by Poggio, Elena, Barazzuol, Lucia, Salmaso, Andrea, Milani, Celeste, Deligiannopoulou, Adamantia, Cazorla, Ángeles García, Jang, Se Song, Juliá-Palacios, Natalia, Keren, Boris, Kopajtich, Robert, Lynch, Sally Ann, Mignot, Cyril, Moorwood, Catherine, Neuhofer, Christiane, Nigro, Vincenzo, Oostra, Anna, Prokisch, Holger, Saillour, Virginie, Schuermans, Nika, Torella, Annalaura, Verloo, Patrick, Yazbeck, Elise, Zollino, Marcella, Jech, Robert, Winkelmann, Juliane, Necpal, Jan, Calì, Tito, Brini, Marisa, Zech, Michael

“…ATP2B2 encodes the variant-constrained plasma-membrane calcium-transporting ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2…”
Get full text

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations by Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

“…PURPOSEZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin…”
Get full text

Duchenne muscular dystrophy drug discovery - the application of utrophin promoter activation screening by Moorwood, Catherine, Khurana, Tejvir S

“…Duchenne muscular dystrophy (DMD) is a devastating genetic muscle wasting disease caused by mutations in the DMD gene that in turn lead to an absence of…”
Get more information

A cell-based high-throughput screening assay for posttranscriptional utrophin upregulation by Moorwood, Catherine, Soni, Neha, Patel, Gopal, Wilton, Steve D, Khurana, Tejvir S

“…Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease caused by mutations in the dystrophin gene. Utrophin is a homologue of dystrophin…”
Get more information

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies by Moorwood, Catherine, Liu, Min, Tian, Zuozhen, Barton, Elisabeth R.

Get full text

Absence of γ-sarcoglycan alters the response of p70S6 kinase to mechanical perturbation in murine skeletal muscle by Moorwood, Catherine, Philippou, Anastassios, Spinazzola, Janelle, Keyser, Benjamin, Macarak, Edward J, Barton, Elisabeth R

“…The dystrophin glycoprotein complex (DGC) is located at the sarcolemma of muscle fibers, providing structural integrity. Mutations in and loss of DGC proteins…”
Get full text

Syncoilin modulates peripherin filament networks and is necessary for large-calibre motor neurons by Clarke, W. Thomas, Edwards, Ben, McCullagh, Karl J.A, Kemp, Matthew W, Moorwood, Catherine, Sherman, Diane L, Burgess, Matthew, Davies, Kay E

“…Syncoilin is an atypical type III intermediate filament (IF) protein, which is expressed in muscle and is associated with the dystrophin-associated protein…”
Get full text

Absence of [gamma]-sarcoglycan alters the response of p70S6 kinase to mechanical perturbation in murine skeletal muscle by Moorwood, Catherine, Philippou, Anastassios, Spinazzola, Janelle, Keyser, Benjamin, Macarak, Edward J, Barton, Elisabeth R

“…The dystrophin glycoprotein complex (DGC) is located at the sarcolemma of muscle fibers, providing structural integrity. Mutations in and loss of DGC proteins…”
Get full text