Search Results - "Davies, Kay E."

The Pathogenesis and Therapy of Muscular Dystrophies by Guiraud, Simon, Aartsma-Rus, Annemieke, Vieira, Natassia M, Davies, Kay E, van Ommen, Gert-Jan B, Kunkel, Louis M

“…Current molecular genomic approaches to human genetic disorders have led to an explosion in the identification of the genes and their encoded proteins…”
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Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers by Goyenvalle, Aurélie, Griffith, Graziella, Babbs, Arran, Andaloussi, Samir El, Ezzat, Kariem, Avril, Aurélie, Dugovic, Branislav, Chaussenot, Rémi, Ferry, Arnaud, Voit, Thomas, Amthor, Helge, Bühr, Claudia, Schürch, Stefan, Wood, Matthew J A, Davies, Kay E, Vaillend, Cyrille, Leumann, Christian, Garcia, Luis

“…Use of a new generation anti-sense oligonucleotide to target exon skipping in multiple organ systems in two mouse models of muscular dystrophy Antisense…”
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Molecular mechanisms of muscular dystrophies: old and new players by Davies, Kay E, Nowak, Kristen J

“…The study of the muscle cell in the muscular dystrophies (MDs) has shown that mutant proteins result in perturbations of many cellular components. MDs have…”
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Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain by Vernes, Sonja C, Oliver, Peter L, Spiteri, Elizabeth, Lockstone, Helen E, Puliyadi, Rathi, Taylor, Jennifer M, Ho, Joses, Mombereau, Cedric, Brewer, Ariel, Lowy, Ernesto, Nicod, Jérôme, Groszer, Matthias, Baban, Dilair, Sahgal, Natasha, Cazier, Jean-Baptiste, Ragoussis, Jiannis, Davies, Kay E, Geschwind, Daniel H, Fisher, Simon E

“…Forkhead-box protein P2 is a transcription factor that has been associated with intriguing aspects of cognitive function in humans, non-human mammals, and…”
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Safety, tolerability, and pharmacokinetics of SMT C1100, a 2-arylbenzoxazole utrophin modulator, following single- and multiple-dose administration to healthy male adult volunteers by Tinsley, Jon, Robinson, Neil, Davies, Kay E.

“…SMT C1100 is a small molecule utrophin modulator in development to treat Duchenne muscular dystrophy. This study evaluated the safety, tolerability, and…”
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The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling by Bitoun, Emmanuelle, Oliver, Peter L., Davies, Kay E.

“…AF4 gene, frequently translocated with mixed-lineage leukemia (MLL) in childhood acute leukemia, encodes a putative transcriptional activator of the…”
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A Functional Genetic Link between Distinct Developmental Language Disorders by Vernes, Sonja C, Newbury, Dianne F, Abrahams, Brett S, Winchester, Laura, Nicod, Jérôme, Groszer, Matthias, Alarcón, Maricela, Oliver, Peter L, Davies, Kay E, Geschwind, Daniel H, Monaco, Anthony P, Fisher, Simon E

“…This study shows an association between variants of CNTNAP2 and a diminished ability to repeat nonsense words, a behavioral marker of specific language…”
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Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy by Bäumer, Dirk, Lee, Sheena, Nicholson, George, Davies, Joanna L, Parkinson, Nicholas J, Murray, Lyndsay M, Gillingwater, Thomas H, Ansorge, Olaf, Davies, Kay E, Talbot, Kevin

“…Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional…”
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The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy by Guiraud, Simon, Edwards, Benjamin, Babbs, Arran, Squire, Sarah E, Berg, Adam, Moir, Lee, Wood, Matthew J, Davies, Kay E

“…Abstract Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder caused by loss of dystrophin. Several therapeutic modalities are currently in…”
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The antioxidant protein Oxr1 influences aspects of mitochondrial morphology by Wu, Yixing, Davies, Kay E., Oliver, Peter L.

“…Oxidative stress (OS) and mitochondrial dysfunction are implicated in neurodegenerative disease, suggesting that antioxidant defence systems are critical for…”
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2015 William Allan Award by Davies, Kay E.

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Oxr1 is essential for protection against oxidative stress-induced neurodegeneration by Oliver, Peter L, Finelli, Mattéa J, Edwards, Benjamin, Bitoun, Emmanuelle, Butts, Darcy L, Becker, Esther B E, Cheeseman, Michael T, Davies, Ben, Davies, Kay E

“…Oxidative stress is a common etiological feature of neurological disorders, although the pathways that govern defence against reactive oxygen species (ROS) in…”
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Embryonic myosin is a regeneration marker to monitor utrophin-based therapies for DMD by Guiraud, Simon, Edwards, Benjamin, Squire, Sarah E, Moir, Lee, Berg, Adam, Babbs, Arran, Ramadan, Nesrine, Wood, Matthew J, Davies, Kay E

“…Abstract Duchenne muscular dystrophy (DMD) is a lethal, X-linked muscle-wasting disease caused by lack of the cytoskeletal protein dystrophin. Constitutive…”
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The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress by Finelli, Mattéa J., Sanchez-Pulido, Luis, Liu, Kevin X, Davies, Kay E., Oliver, Peter L.

“…Oxidative stress is a pathological feature of many neurological disorders; therefore, utilizing proteins that are protective against such cellular insults is a…”
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Neuron-specific antioxidant OXR1 extends survival of a mouse model of amyotrophic lateral sclerosis by Liu, Kevin X, Edwards, Benjamin, Lee, Sheena, Finelli, Mattéa J, Davies, Ben, Davies, Kay E, Oliver, Peter L

“…Amyotrophic lateral sclerosis is a devastating neurodegenerative disorder characterized by the progressive loss of spinal motor neurons. While the aetiological…”
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Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping by GOYENVALLE, Aurélie, BABBS, Arran, WRIGHT, Jordan, WILKINS, Vivienne, POWELL, Dave, GARCIA, Luis, DAVIES, Kay E

“…Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the dystrophin gene that result in the absence of functional…”
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Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMD by Pichavant, Christophe, Aartsma-Rus, Annemieke, Clemens, Paula R, Davies, Kay E, Dickson, George, Takeda, Shin'ichi, Wilton, Steve D, Wolff, Jon A, Wooddell, Christine I, Xiao, Xiao, Tremblay, Jacques P

“…Duchenne muscular dystrophy (DMD) is a genetic disease affecting about one in every 3,500 boys. This X-linked pathology is due to the absence of dystrophin in…”
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Chemical Proteomics and Phenotypic Profiling Identifies the Aryl Hydrocarbon Receptor as a Molecular Target of the Utrophin Modulator Ezutromid by Wilkinson, Isabel V. L., Perkins, Kelly J., Dugdale, Hannah, Moir, Lee, Vuorinen, Aini, Chatzopoulou, Maria, Squire, Sarah E., Monecke, Sebastian, Lomow, Alexander, Geese, Marcus, Charles, Philip D., Burch, Peter, Tinsley, Jonathan M., Wynne, Graham M., Davies, Stephen G., Wilson, Francis X., Rastinejad, Fraydoon, Mohammed, Shabaz, Davies, Kay E., Russell, Angela J.

“…Duchenne muscular dystrophy (DMD) is a fatal muscle‐wasting disease arising from mutations in the dystrophin gene. Upregulation of utrophin to compensate for…”
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High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, a Gene Mutated in Speech and Language Disorders by Vernes, Sonja C., Spiteri, Elizabeth, Nicod, Jérôme, Groszer, Matthias, Taylor, Jennifer M., Davies, Kay E., Geschwind, Daniel H., Fisher, Simon E.

“…We previously discovered that mutations of the human FOXP2 gene cause a monogenic communication disorder, primarily characterized by difficulties in learning…”
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Second-generation compound for the modulation of utrophin in the therapy of DMD by Guiraud, Simon, Squire, Sarah E, Edwards, Benjamin, Chen, Huijia, Burns, David T, Shah, Nandini, Babbs, Arran, Davies, Stephen G, Wynne, Graham M, Russell, Angela J, Elsey, David, Wilson, Francis X, Tinsley, Jon M, Davies, Kay E

“…Duchenne muscular dystrophy (DMD) is a lethal, X-linked muscle-wasting disease caused by lack of the cytoskeletal protein dystrophin. There is currently no…”
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