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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene 总被引:18,自引:0,他引:18
Date H Onodera O Tanaka H Iwabuchi K Uekawa K Igarashi S Koike R Hiroi T Yuasa T Awaya Y Sakai T Takahashi T Nagatomo H Sekijima Y Kawachi I Takiyama Y Nishizawa M Fukuhara N Saito K Sugano S Tsuji S 《Nature genetics》2001,29(2):184-188
Friedreich ataxia (FRDA), the most common autosomal recessive neurodegenerative disease among Europeans and people of European descent, is characterized by an early onset (usually before the age of 25), progressive ataxia, sensory loss, absence of tendon reflexes and pyramidal weakness of the legs. We have recently identified a unique group of patients whose clinical presentations are characterized by autosomal recessive inheritance, early age of onset, FRDA-like clinical presentations and hypoalbuminemia. Linkage to the FRDA locus, however, was excluded. Given the similarities of the clinical presentations to those of the recently described ataxia with oculomotor apraxia (AOA) linked to chromosome 9p13, we confirmed that the disorder of our patients is also linked to the same locus. We narrowed the candidate region and have identified a new gene encoding a member of the histidine triad (HIT) superfamily as the 'causative' gene. We have called its product aprataxin; the gene symbol is APTX. Although many HIT proteins have been identified, aprataxin is the first to be linked to a distinct phenotype. 相似文献
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Kou Takahashi Joshua B. Foster Chien-Liang Glenn Lin 《Cellular and molecular life sciences : CMLS》2015,72(18):3489-3506
Glutamate is the predominant excitatory neurotransmitter in the central nervous system. Excitatory amino acid transporter 2 (EAAT2) is primarily responsible for clearance of extracellular glutamate to prevent neuronal excitotoxicity and hyperexcitability. EAAT2 plays a critical role in regulation of synaptic activity and plasticity. In addition, EAAT2 has been implicated in the pathogenesis of many central nervous system disorders. In this review, we summarize current understanding of EAAT2, including structure, pharmacology, physiology, and functions, as well as disease relevancy, such as in stroke, Parkinson’s disease, epilepsy, amyotrophic lateral sclerosis, Alzheimer’s disease, major depressive disorder, and addiction. A large number of studies have demonstrated that up-regulation of EAAT2 protein provides significant beneficial effects in many disease models suggesting EAAT2 activation is a promising therapeutic approach. Several EAAT2 activators have been identified. Further understanding of EAAT2 regulatory mechanisms could improve development of drug-like compounds that spatiotemporally regulate EAAT2. 相似文献
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Influence of pulsing electromagnetic field on the frequency of sister-chromatid exchanges in cultured mammalian cells 总被引:1,自引:0,他引:1
K. Takahashi I. Kaneko M. Date E. Fukada 《Cellular and molecular life sciences : CMLS》1987,43(3):331-332
Summary Exposure of Chinese hamster cells to pulsing electromagnetic field (PEMF) with 0.18–2.5 mT did not influence the baseline frequency of sister-chromatid exchanges (SCE). The results suggest that PEMF with the magnetic intensity examined does not interfere with DNA replication nor produce DNA lesions, thereby leading to an increased frequency of SCE. 相似文献
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C. Takahashi K. Yoshihira S. Natori M. Umeda K. Ohtsubo M. Saito 《Cellular and molecular life sciences : CMLS》1974,30(5):529-530
Zusammenfassung Zwei neue Toxine wurden aus den Mycelien und dem Zuchtmedium eines Schimmelpilzes,Aspergillus candidus, sowie aus dem experimentell mit demselben Pilz verschimmelten polierten Reis isoliert. Die beiden Substanzen sind sowohl chemisch als auch toxikologisch voneinander völlig verschieden. 相似文献
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Uchida K Takahashi S Harii K Ieda J Koshibae W Ando K Maekawa S Saitoh E 《Nature》2008,455(7214):778-781
The generation of electric voltage by placing a conductor in a temperature gradient is called the Seebeck effect. Its efficiency is represented by the Seebeck coefficient, S, which is defined as the ratio of the generated electric voltage to the temperature difference, and is determined by the scattering rate and the density of the conduction electrons. The effect can be exploited, for example, in thermal electric-power generators and for temperature sensing, by connecting two conductors with different Seebeck coefficients, a device called a thermocouple. Here we report the observation of the thermal generation of driving power, or voltage, for electron spin: the spin Seebeck effect. Using a recently developed spin-detection technique that involves the spin Hall effect, we measure the spin voltage generated from a temperature gradient in a metallic magnet. This thermally induced spin voltage persists even at distances far from the sample ends, and spins can be extracted from every position on the magnet simply by attaching a metal. The spin Seebeck effect observed here is directly applicable to the production of spin-voltage generators, which are crucial for driving spintronic devices. The spin Seebeck effect allows us to pass a pure spin current, a flow of electron spins without electric currents, over a long distance. These innovative capabilities will invigorate spintronics research. 相似文献