Aspartoacylase (ASPA) is an oligodendrocyte-restricted enzyme that catalyzes the hydrolysis of neuronally derived N-acetylaspartate (NAA) to acetate and aspartic acid. ASPA deficiency leads to the fatal childhood autosomal recessive leukodystrophy Canavan disease (CD). Here we demonstrate that the previously described ENU-induced nur7 mouse mutant is caused by a nonsense mutation, Q193X, in the...

1. Berge KH, Seppala MD, Lanier WL: The anesthesiology community’s approach to opioidand anesthetic-abusing personnel: Time to change course. ANESTHESIOLOGY 2008; 109:762–4 2. McLellan AT, Skipper GS, Campbell M, DuPont RL: Five year outcomes in a cohort study of physicians treated for substance use disorders in the United States. BMJ 2008; 337:2038 3. Menk EJ, Baumgarten RK, Kingsley CP, Culli...

Various regions of the brain have been successfully transduced by recombinant adeno-associated virus (rAAV) vectors with no detected toxicity. When using the cytomegalovirus immediate early (CMV) promoter, a gradual decline in the number of transduced cells has been described. In contrast, the use of cellular promoters such as the neuron-specific enolase promoter or hybrid promoters such as the...

Recombinant adeno-associated virus (rAAV) vectors mediating long term transgene expression are excellent gene therapy tools for chronic neurological diseases. While rAAV2 was the first serotype tested in the clinics, more efficient vectors derived from the rh10 serotype are currently being evaluated and other serotypes are likely to be tested in the near future. In addition, aside from the curr...

respiratory utopia or common sense? Thorax 2013; 68: 691–694. 4 Han MK, Agusti A, Calverley PM, et al. Chronic obstructive pulmonary disease phenotypes: the future of COPD. Am J Respir Crit Care Med 2010; 182: 598–604. 5 Celli BR, Cote CG, Marı́n JM, et al. The body-mass index, airflow obstruction, dyspnea, and exercise capacity index in chronic obstructive pulmonary disease. N Engl J Med 2004; ...

1 Norman J. Powell, Centre for Excellence in Enquiry-Based Learning, University of Manchester, United Kingdom, [email protected] 2 Alasdair Renfrew, School of Electronics and Electrical Engineering, University of Manchester, United Kingdom, [email protected] 3 William S. Truscott, School of Electronics and Electrical Engineering, University of Manchester, United Kingdom, w....

Slow cortical potentials may represent the excitability of cortical neuronal networks. We have suggested that surface-negative potentia Is, such as the CNV, indicate increased cortical excitability while positive-going waves, such as P300, are produced when excitability is lowered transiently (Rockstroh, Elbert, Canavan, Lutzenberger, & Birbaumer, 1989). If true, the processing of "probe" stimu...

Aspartoacylase (ASPA; EC 3.5.1.15) catalyzes deacetylation of N-acetylaspartate (NAA) to generate free acetate in the central nervous system (CNS). Mutations in the gene coding ASPA cause Canavan disease (CD), an autosomal recessive neurodegenerative disease that results in death before 10 years of age. The pathogenesis of CD remains unclear. Our working hypothesis is that deficiency in the sup...