نتایج جستجو برای: gyrate atrophy
تعداد نتایج: 36545 فیلتر نتایج به سال:
A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT), is present in the hereditary blinding disease, gyrate atrophy (GA). Because the OAT gene is a multi-gene family, and the native OAT enzyme is an oligomer, it would be important to identify the gene locus actually responsible for the OAT activity and affected in GA. A mammalian expression clone containing a p...
Retinal degeneration arises from the loss of photoreceptors or retinal pigment epithelium (RPE). It is one of the leading causes of irreversible blindness worldwide with limited effective treatment options. Generation of induced pluripotent stem cell (IPSC)-derived retinal cells and tissues from individuals with retinal degeneration is a rapidly evolving technology that holds a great potential ...
Ornithine δ-aminotransferase (OAT, E.C. 2.6.1.13) catalyzes the transfer of the δ-amino group from ornithine (Orn) to α-ketoglutarate (aKG), yielding glutamate-5-semialdehyde and glutamate (Glu), and vice versa. In mammals, OAT is a mitochondrial enzyme, mainly located in the liver, intestine, brain, and kidney. In general, OAT serves to form glutamate from ornithine, with the notable exception...
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