TY - JOUR
AU1 - Sztal, Tamar
AU2 - McKaige, Emily
AU3 - Williams, Caitlin
AU4 - Oorschot, Viola
AU5 - Ramm, Georg
AU6 - Bryson-Richardson, Robert
AB - Sztal et al. Acta Neuropathologica Communications (2018) 6:40 https://doi.org/10.1186/s40478-018-0546-9 RESEARCH Open Access Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy 1 1 1 2 2,3,4 Tamar E. Sztal , Emily A. McKaige , Caitlin Williams , Viola Oorschot , Georg Ramm 1* and Robert J. Bryson-Richardson 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 responsible for approximately 50% of nemaline myopathy cases. Despite the severity of the disease there is no effective treatment for nemaline myopathy with limited research to develop potential therapies. Several supplements, including L-tyrosine, have been suggested to be beneficial and consequently self- administered by nemaline myopathy patients without any knowledge of their efficacy. We have characterized a zebrafish model for nemaline myopathy caused by a mutation in nebulin. These fish form electron-dense nemaline bodies and display reduced muscle function akin to the phenotypes observed in nemaline myopathy patients. We have utilized our zebrafish model to test and evaluate four treatments currently self-administered by nemaline myopathy patients to determine their ability to increase 
TI - Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
JF - Acta Neuropathologica Communications
DO - 10.1186/s40478-018-0546-9
DA - 2018-05-30
UR - https://www.deepdyve.com/lp/springer-journals/testing-of-therapies-in-a-novel-nebulin-nemaline-myopathy-model-i4iiHUfrU2
SP - 1
EP - 10
VL - 6
IS - 1
DP - DeepDyve
ER -