There is no effective treatment for the cardiomyopathy of the most common autosomal recessive ataxia, Friedreich's ataxia (FA). The identification of potentially toxic mitochondrial (MIT) iron (Fe) deposits in FA suggests that Fe plays a role in its pathogenesis. This study used the muscle creatine kinase conditional frataxin (Fxn) knockout (mutant) mouse model that reproduces the classical tra...

Abstract Background The Spo0B-associated GTP-binding protein (Obg) GTPase, has diverse and important functions in bacteria, including morphological development, DNA replication ribosome maturation. Homologs of the Bacillus subtilis Obg have been also found chloroplast Oryza sativa , but their primary roles remain unknown. Results We clarify that OsObgC1 is a functional homolog AtObgC. mutant ob...

microRNAs have been implicated in mediating key aspects of skeletal muscle development and responses to diseases and injury. Recently, we demonstrated that a synaptically enriched microRNA, miR-206, functions to promote maintenance and repair of the neuromuscular junction (NMJ); in mutant mice lacking miR-206, reinnervation is impaired following nerve injury and loss of NMJs is accelerated in a...

The retinaldehyde dehydrogenase 3 (Raldh3) gene encodes a major retinoic acid synthesizing enzyme and is highly expressed in the inner ear during embryogenesis. We found that mice deficient in Raldh3 bear severe impairment in vestibular functions. These mutant mice exhibited spontaneous circling/tilted behaviors and performed poorly in several vestibular-motor function tests. In addition, video...

prevalence of abortion is higher in women with autoimmune thyroid disease. in the majority of cases, however, no abnormality of thyroid function is detected despite the high levels of antithyroid antibodies. the direct influence of such harmful autoantibodies in female reproductive organs may serve a role in pregnancy loss. in this study, expression of thyroglobulin in the reproductive tissues ...

We characterized two bacteriophages, ΦFG02 and ΦCO01, against clinical isolates of Acinetobacter baumannii established that the bacterial capsule is receptor for these phages. Phage-resistant mutants harboured loss-of-function mutations in genes responsible biosynthesis, resulting loss disruption phage adsorption. The phage-resistant strains were resensitized to human complement, beta-lactam an...

The gap junction (GJ) protein connexin32 (Cx32) is expressed by myelinating Schwann cells and oligodendrocytes and is mutated in X-linked Charcot-Marie-Tooth disease. In addition to a demyelinating peripheral neuropathy, some Cx32 mutants are associated with transient or chronic CNS phenotypes. To investigate the molecular basis of these phenotypes, we generated transgenic mice expressing the T...