排序方式: 共有107条查询结果,搜索用时 15 毫秒
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Fünfschilling U Supplie LM Mahad D Boretius S Saab AS Edgar J Brinkmann BG Kassmann CM Tzvetanova ID Möbius W Diaz F Meijer D Suter U Hamprecht B Sereda MW Moraes CT Frahm J Goebbels S Nave KA 《Nature》2012,485(7399):517-521
Oligodendrocytes, the myelin-forming glial cells of the central nervous system, maintain long-term axonal integrity. However, the underlying support mechanisms are not understood. Here we identify a metabolic component of axon-glia interactions by generating conditional Cox10 (protoheme IX farnesyltransferase) mutant mice, in which oligodendrocytes and Schwann cells fail to assemble stable mitochondrial cytochrome c oxidase (COX, also known as mitochondrial complex IV). In the peripheral nervous system, Cox10 conditional mutants exhibit severe neuropathy with dysmyelination, abnormal Remak bundles, muscle atrophy and paralysis. Notably, perturbing mitochondrial respiration did not cause glial cell death. In the adult central nervous system, we found no signs of demyelination, axonal degeneration or secondary inflammation. Unlike cultured oligodendrocytes, which are sensitive to COX inhibitors, post-myelination oligodendrocytes survive well in the absence of COX activity. More importantly, by in vivo magnetic resonance spectroscopy, brain lactate concentrations in mutants were increased compared with controls, but were detectable only in mice exposed to volatile anaesthetics. This indicates that aerobic glycolysis products derived from oligodendrocytes are rapidly metabolized within white matter tracts. Because myelinated axons can use lactate when energy-deprived, our findings suggest a model in which axon-glia metabolic coupling serves a physiological function. 相似文献
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Zusammenfassung Die Autoren untersuchen den transkapillaren Durchtritt von3H Noradrenalin in das Gehirn der Mäuse. Auf Grund der Versuche scheint es wahrscheinlich, dass die Barriere, die den Eintritt von Noradrenalin in das Gehirn verhindert, sich nicht in der Kapillarwand befindet. 相似文献
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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies 总被引:24,自引:0,他引:24
Haug K Warnstedt M Alekov AK Sander T Ramírez A Poser B Maljevic S Hebeisen S Kubisch C Rebstock J Horvath S Hallmann K Dullinger JS Rau B Haverkamp F Beyenburg S Schulz H Janz D Giese B Müller-Newen G Propping P Elger CE Fahlke C Lerche H Heils A 《Nature genetics》2003,33(4):527-532
Idiopathic generalized epilepsy (IGE) is an inherited neurological disorder affecting about 0.4% of the world's population. Mutations in ten genes causing distinct forms of idiopathic epilepsy have been identified so far, but the genetic basis of many IGE subtypes is still unknown. Here we report a gene associated with the four most common IGE subtypes: childhood and juvenile absence epilepsy (CAE and JAE), juvenile myoclonic epilepsy (JME), and epilepsy with grand mal seizures on awakening (EGMA; ref. 8). We identified three different heterozygous mutations in the chloride-channel gene CLCN2 in three unrelated families with IGE. These mutations result in (i) a premature stop codon (M200fsX231), (ii) an atypical splicing (del74-117) and (iii) a single amino-acid substitution (G715E). All mutations produce functional alterations that provide distinct explanations for their pathogenic phenotypes. M200fsX231 and del74-117 cause a loss of function of ClC-2 channels and are expected to lower the transmembrane chloride gradient essential for GABAergic inhibition. G715E alters voltage-dependent gating, which may cause membrane depolarization and hyperexcitability. 相似文献
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification 总被引:8,自引:0,他引:8
Rutsch F Ruf N Vaingankar S Toliat MR Suk A Höhne W Schauer G Lehmann M Roscioli T Schnabel D Epplen JT Knisely A Superti-Furga A McGill J Filippone M Sinaiko AR Vallance H Hinrichs B Smith W Ferre M Terkeltaub R Nürnberg P 《Nature genetics》2003,34(4):379-381
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification. 相似文献
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在地图学中,地图投影是指建立地球表面上一点与投影平面上点之间的一一对应关系。地图投影的目的是通过将不可展的球面投影到一个可展曲面上,然后将该曲面展开成为一个平面,来保证空间信息在地域上的连续性、完整性和可测度性。根据美国著名地图投影专家J.P.Snyder统计,世界上地图投影种类现有256种。 相似文献