This Clinical Research Center, now in Year 21, has been concerned with human neuromuscular diseases. The board objective is to elucidate the etiology and pathogenesis of these disorders, in order to either devise rational treatments for presently untreatable conditions or provide information that could guide sound genetic counseling. The emphasis has shifted in different periods of the grant, but we have concentrated on human patients. The current program includes two main themes: mitochondrial encephalomyopathies and autoimmune motor neuropathies. Center investigators have been active in both fields and have been collaborating for many years. These are three projects. Project 1 Bonilla and Schon will study mtDNA deletions in muscle and brain, using combined morphological and genetic approaches, including novel PCR-based methodologies. Project 2 King and Miranda will study genotype-phenotype relationships of mtDNA mutations in a novel, post-mitotic tissue culture system. Project 3 Latov, Lee, and Hays will study mechanisms by which exposure to Campylobacter jejuni may activate specific 'memory' B cells which recognize the bacterial complex oligosaccharides, resulting in production of pathogenic autoantibodies, using transgenic mouse technology as a key component. A clinical core DiMauro and Rowland will provide direction, administration, external consultation, clinical coordination, and share technical service to the project as a whole. As always, we have encouraged collaboration between the basic and clinical scientists.
| Akman, H Orhan; Aykit, Yavuz; Amuk, Ozge Ceren et al. (2016) Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord 26:16-20 |
| Quinzii, Catarina M; Hirano, Michio; DiMauro, Salvatore (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med 371:81-2 |
| Cámara, Yolanda; González-Vioque, Emiliano; Scarpelli, Mauro et al. (2014) Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Hum Mol Genet 23:2459-67 |
| Li, Wei; Gigante, Alba; Perez-Perez, Maria-Jesus et al. (2014) Thymidine phosphorylase participates in platelet signaling and promotes thrombosis. Circ Res 115:997-1006 |
| Vara, Dina S; Campanella, Michelangelo; Canobbio, Ilaria et al. (2013) Autocrine amplification of integrin ?IIb?3 activation and platelet adhesive responses by deoxyribose-1-phosphate. Thromb Haemost 109:1108-19 |
| Pfeffer, Gerald; Horvath, Rita; Klopstock, Thomas et al. (2013) New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol 9:474-81 |
| Martí, Ramon; López, Luis C; Hirano, Michio (2012) Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol 837:121-33 |
| Martí, Ramon; Dorado, Beatriz; Hirano, Michio (2012) Measurement of mitochondrial dNTP pools. Methods Mol Biol 837:135-48 |
| Hirano, Michio; Quinzii, Catarina M; Mitsumoto, Hiroshi et al. (2011) Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler 12:223-7 |
| Douglas, Ganka V; Wiszniewska, Joanna; Lipson, Mark H et al. (2011) Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet 56:834-9 |
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