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  • 1
    Electronic Resource
    Electronic Resource
    Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications (2000)
    Springer
    Journal of human genetics 45 (2000), S. 69-75 
    Details
    ISSN: 1435-232X
    Keywords: Key words Leigh ; Mitochondria ; ATPase ; Phylogeny
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Of 100 patients with the clinical diagnosis of Leigh syndrome, 21 were found to have specific enzyme defects: 15 involving cytochrome c oxidase (COX); 4, pyruvate dehydrogenase complex (PDHC); one, complex I (reduced nicotinamide adenine dinucleotide [NADH]-coenzyme Q reductase) and one, complex II (succinate-ubiquinone reductase) deficiencies. In addition to the most common form of COX deficiency, mtDNA mutations in the adenosine triphosphatase (ATPase) 6 coding region were also commonly seen. Eighteen patients (18%) had mtDNA mutations at nucleotide position (np) 8993 or 9176. The mutated DNAs were present in a heteroplasmic state, comprising more than 90% of the DNA in muscle and/or blood samples from all patients. Patients with the T-to-G mutation at np 8993 usually had early onset of the disease with rapid progression, showing the typical clinical features of Leigh syndrome. On the other hand, those with the T-to-C 8993 mutation showed a milder and more chronic course. Patients with the mutation at np 9176 showed variable courses. Phylogenetic analysis of mtDNA D-loop sequences for the patients with the ATPase 6 mutations and normal Japanese subjects revealed that a T-to-G/C mutation at np 8993 and a T-to-C mutation at np 9176 occurred many times independently in the Japanese population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050014
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  • 2
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    Glia-synapse interaction through Ca2+-permeable AMPA receptors in Bergmann glia (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-05-08
    Description: Glial cells express a variety of neurotransmitter receptors. Notably, Bergmann glial cells in the cerebellum have Ca2+-permeable alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors (AMPARs) assembled without the GluR2 subunit. To elucidate the role of these Ca2+-permeable AMPARs, we converted them into Ca2+-impermeable receptors by adenoviral-mediated delivery of the GluR2 gene. This conversion retracted the glial processes ensheathing synapses on Purkinje cell dendritic spines and retarded the removal of synaptically released glutamate. Furthermore, it caused multiple innervation of Purkinje cells by the climbing fibers. Thus, the glial Ca2+-permeable AMPARs are indispensable for proper structural and functional relations between Bergmann glia and glutamatergic synapses.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Iino, M -- Goto, K -- Kakegawa, W -- Okado, H -- Sudo, M -- Ishiuchi, S -- Miwa, A -- Takayasu, Y -- Saito, I -- Tsuzuki, K -- Ozawa, S -- New York, N.Y. -- Science. 2001 May 4;292(5518):926-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Gunma University School of Medicine, Maebashi, Gunma 371-8511, Japan.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11340205" target="_blank"〉PubMed〈/a〉
    Keywords: Adenoviridae/genetics ; Animals ; Astrocytes/cytology/*physiology ; Calcium/*metabolism ; Calcium Signaling ; Excitatory Postsynaptic Potentials ; Genetic Vectors ; Green Fluorescent Proteins ; In Vitro Techniques ; Luminescent Proteins/genetics ; Membrane Potentials ; Patch-Clamp Techniques ; Permeability ; Purkinje Cells/cytology/*physiology ; Rats ; Receptors, AMPA/genetics/*metabolism ; Synapses/metabolism/*physiology ; *Synaptic Transmission ; Transfection ; alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid/pharmacology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    Retrotransposon-induced mutations in grape skin color (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2004-05-15
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kobayashi, Shozo -- Goto-Yamamoto, Nami -- Hirochika, Hirohiko -- New York, N.Y. -- Science. 2004 May 14;304(5673):982.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Grape and Persimmon Research, National Institute of Fruit Tree Science, Akitsu, Hiroshima 729-2494, Japan. skobaya@affrc.go.jp〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15143274" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Anthocyanins/biosynthesis/genetics ; Fruit/*genetics/physiology ; *Genes, Plant ; *Mutation ; Pigmentation/*genetics ; *Retroelements ; Vitis/*genetics/physiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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