排序方式: 共有26条查询结果,搜索用时 15 毫秒
1.
Komen JC Distelmaier F Koopman WJ Wanders RJ Smeitink J Willems PH 《Cellular and molecular life sciences : CMLS》2007,64(24):3271-3281
Refsum disease is a rare, inherited neurodegenerative disorder characterized by accumulation of the dietary branched-chain
fatty acid phytanic acid in plasma and tissues caused by a defect in the alphaoxidation pathway. The accumulation of phytanic
acid is believed to be the main pathophysiological cause of the disease. However, the exact mechanism(s) by which phytanic
acid exerts its toxicity have not been resolved. In this study, the effect of phytanic acid on mitochondrial respiration was
investigated. The results show that in digitonin-permeabilized fibroblasts, phytanic acid decreases ATP synthesis, whereas
substrate oxidation per se is not affected. Importantly, studies in intact fibroblasts revealed that phytanic acid decreases both the mitochondrial
membrane potential and NAD(P)H autofluorescence. Taken together, the results described here show that unesterified phytanic
acid exerts its toxic effect mainly through its protonophoric action, at least in human skin fibroblasts.
Received 4 August 2007; received after revision 26 September 2007; accepted 10 October 2007
J. C. Komen, F. Distelmaier: These authors contributed equally to this work. 相似文献
2.
van de Laar IM Oldenburg RA Pals G Roos-Hesselink JW de Graaf BM Verhagen JM Hoedemaekers YM Willemsen R Severijnen LA Venselaar H Vriend G Pattynama PM Collée M Majoor-Krakauer D Poldermans D Frohn-Mulder IM Micha D Timmermans J Hilhorst-Hofstee Y Bierma-Zeinstra SM Willems PJ Kros JM Oei EH Oostra BA Wessels MW Bertoli-Avella AM 《Nature genetics》2011,43(2):121-126
Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with other aneurysm syndromes, most of these affected individuals presented with early-onset osteoarthritis. We mapped the genetic locus to chromosome 15q22.2-24.2 and show that the disease is caused by mutations in SMAD3. This gene encodes a member of the TGF-β pathway that is essential for TGF-β signal transmission. SMAD3 mutations lead to increased aortic expression of several key players in the TGF-β pathway, including SMAD3. Molecular diagnosis will allow early and reliable identification of cases and relatives at risk for major cardiovascular complications. Our findings endorse the TGF-β pathway as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis. 相似文献
3.
Zusammenfassung Die orientierte Verwachsung zwischen zwei nicht identischen Polyamiden wird als neuartiger Typ der Epitaxie am Beispiel der Aufwachsung des biopolymeren Polyamids Poly-l-Glutaminsäure--benzylester auf Poly--caprolactam beschrieben. Der Verwachsungstyp bietet einen neuen Weg zur Untersuchung der Voraussetzungen für die Assoziation nicht identischer hochmolekularer Polyamide.
The author thanks Dr.R. Holm, Farbenfabriken Bayer AG, Leverkusen, for the scanning electron micrograph. 相似文献
The author thanks Dr.R. Holm, Farbenfabriken Bayer AG, Leverkusen, for the scanning electron micrograph. 相似文献
4.
J. Willems 《Cellular and molecular life sciences : CMLS》1957,13(9):380
Ohne Zusammenfassung 相似文献
5.
6.
7.
Valsecchi F Glebbeek E Farr WM Fragos T Willems B Orosz JA Liu J Kalogera V 《Nature》2010,468(7320):77-79
The X-ray source M33 X-7 in the nearby galaxy Messier 33 is among the most massive X-ray binary stellar systems known, hosting a rapidly spinning, 15.65M(⊙) black hole orbiting an underluminous, 70M(⊙) main-sequence companion in a slightly eccentric 3.45-day orbit (M(⊙), solar mass). Although post-main-sequence mass transfer explains the masses and tight orbit, it leaves unexplained the observed X-ray luminosity, the star's underluminosity, the black hole's spin and the orbital eccentricity. A common envelope phase, or rotational mixing, could explain the orbit, but the former would lead to a merger and the latter to an overluminous companion. A merger would also ensue if mass transfer to the black hole were invoked for its spin-up. Here we report simulations of evolutionary tracks which reveal that if M33 X-7 started as a primary body of 85M(⊙)-99M(⊙) and a secondary body of 28M(⊙)-32M(⊙), in a 2.8-3.1-d orbit, its observed properties can be consistently explained. In this model, the main-sequence primary transfers part of its envelope to the secondary and loses the rest in a wind; it ends its life as a ~16M(⊙) helium star with an iron-nickel core that collapses to a black hole (with or without an accompanying supernova). The release of binding energy, and possibly collapse asymmetries, 'kick' the nascent black hole into an eccentric orbit. Wind accretion explains the X-ray luminosity, and the black-hole spin can be natal. 相似文献
8.
Elzerman JM Hanson R Willems Van Beveren LH Witkamp B Vandersypen LM Kouwenhoven LP 《Nature》2004,430(6998):431-435
Spin is a fundamental property of all elementary particles. Classically it can be viewed as a tiny magnetic moment, but a measurement of an electron spin along the direction of an external magnetic field can have only two outcomes: parallel or anti-parallel to the field. This discreteness reflects the quantum mechanical nature of spin. Ensembles of many spins have found diverse applications ranging from magnetic resonance imaging to magneto-electronic devices, while individual spins are considered as carriers for quantum information. Read-out of single spin states has been achieved using optical techniques, and is within reach of magnetic resonance force microscopy. However, electrical read-out of single spins has so far remained elusive. Here we demonstrate electrical single-shot measurement of the state of an individual electron spin in a semiconductor quantum dot. We use spin-to-charge conversion of a single electron confined in the dot, and detect the single-electron charge using a quantum point contact; the spin measurement visibility is approximately 65%. Furthermore, we observe very long single-spin energy relaxation times (up to approximately 0.85 ms at a magnetic field of 8 T), which are encouraging for the use of electron spins as carriers of quantum information. 相似文献
9.
Coucke PJ Willaert A Wessels MW Callewaert B Zoppi N De Backer J Fox JE Mancini GM Kambouris M Gardella R Facchetti F Willems PJ Forsyth R Dietz HC Barlati S Colombi M Loeys B De Paepe A 《Nature genetics》2006,38(4):452-457
Arterial tortuosity syndrome (ATS) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall. Previously, we used homozygosity mapping to map a candidate locus in a 4.1-Mb region on chromosome 20q13.1 (ref. 2). Here, we narrowed the candidate region to 1.2 Mb containing seven genes. Mutations in one of these genes, SLC2A10, encoding the facilitative glucose transporter GLUT10, were identified in six ATS families. GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity. The identification of a glucose transporter gene responsible for altered arterial morphogenesis is notable in light of the previously suggested link between GLUT10 and type 2 diabetes. Our data could provide new insight on the mechanisms causing microangiopathic changes associated with diabetes and suggest that therapeutic compounds intervening with TGFbeta signaling represent a new treatment strategy. 相似文献
10.
J. Willems 《Cellular and molecular life sciences : CMLS》1959,15(5):175
Summary Oriented overgrowth of pentachlorophenol was obtained on a thin film of Nylon 6 produced in contact with (100) of KCl. 相似文献