نتایج جستجو برای: canavan disease

تعداد نتایج: 1490117  

Journal: :Journal of bacteriology 1959
J R McCORMICK N O SJOLANDER S JOHNSON A P DOERSCHUK

A number of nutrient media have been described by Goodman (1954), Katagiri (1954), Niedercorn (1952), Petty et al. (1953), Van Dyke and De Somer (1952), and others that allow Streptomyces aureofaciens Duggar to grow in aerated, liquid culture and to accumulate substantial quantities of 7-chlorotetracycline.' The concentrations of 7-chlorotetracycline accumulated on these different media vary fr...

Journal: :Journal of medical genetics 2002
T R Olsen L Tranebjaerg E A Kvittingen L Hagenfeldt C Møller O Nilssen

Canavan disease (CD) (OMIM 271900) is an autosomal recessive leucodystrophy characterised by swelling and spongy degeneration of the white matter of the brain. The biochemical marker for the disorder is increased level of N-acetylaspartic acid (NAA) in cerebrospinal fluid and urine owing to aspartoacylase (ASPA) deficiency. 2 The disease is caused by mutations in the gene encoding the enzyme as...

2011
Nadine Mersmann Dmitri Tkachev Ruth Jelinek Philipp Thomas Röth Wiebke Möbius Torben Ruhwedel Sabine Rühle Wolfgang Weber-Fahr Alexander Sartorius Matthias Klugmann

Canavan Disease (CD) is a recessive leukodystrophy caused by loss of function mutations in the gene encoding aspartoacylase (ASPA), an oligodendrocyte-enriched enzyme that hydrolyses N-acetylaspartate (NAA) to acetate and aspartate. The neurological phenotypes of different rodent models of CD vary considerably. Here we report on a novel targeted aspa mouse mutant expressing the bacterial β-Gala...

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