We are requesting support for a Technical Core Unit to integrate the scientific activities of the Program Project, thus relating directly to the communal needs of the three individual projects. These needs include program centralized technical services (muscle histochemistry, biochemistry, and molecular genetic laboratories;tissue culture and cybrid generation), service contracts and supplies for common equipment (e.g liquid nitrogen).
The function of the Technical Core is to provide technical support to all three subprojects that are moreeasily provided by a centralized source that avoids duplication of time, resources, effort, and money.
|Peverelli, Lorenzo; Gold, Carl A; Naini, Ali B et al. (2014) Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene. Muscle Nerve 50:292-5|
|Tyynismaa, Henna; Schon, Eric A (2014) Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders? EMBO Mol Med 6:155-7|
|Levy, Rebecca J; Ríos, Purificación Gutierrez; Akman, Hasan O et al. (2014) Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature. J Child Neurol 29:NP105-10|
|Yien, Yvette Y; Robledo, Raymond F; Schultz, Iman J et al. (2014) TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest 124:4294-304|
|Area-Gomez, Estela; Schon, Eric A (2014) Mitochondrial genetics and disease. J Child Neurol 29:1208-15|
|Weiduschat, Nora; Kaufmann, Petra; Mao, Xiangling et al. (2014) Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers. Neurology 82:798-805|
|Garcia-Diaz, Beatriz; Garone, Caterina; Barca, Emanuele et al. (2014) Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy. Brain 137:1337-49|
|Garone, Caterina; Garcia-Diaz, Beatriz; Emmanuele, Valentina et al. (2014) Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. EMBO Mol Med 6:1016-27|
|DiMauro, Salvatore (2013) Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture. Neurology 81:281-91|
|Emmanuele, Valentina; Sotiriou, Evangelia; Rios, Purificacion Gutierrez et al. (2013) A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome. J Child Neurol 28:236-42|
Showing the most recent 10 out of 217 publications