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1.
C. Petter 《Cellular and molecular life sciences : CMLS》1977,33(10):1384-1386
Summary Mouse foetuses were treated by Thalidomide on days 11–12 in order to verify whether the drug would induce blood abnormalities leading to circulatory troubles. About 18% of the treated foetuses showed both severe limb haemorrhages on day 14, and obvious alterations of the nucleated red blood cells of vitelline origin. These blood abnormalities, occurring suddenly during the well-known critical stage of foetal development, could be responsible for circulatory blocks leading to necrosis. 相似文献
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Steinbusch LK Schwenk RW Ouwens DM Diamant M Glatz JF Luiken JJ 《Cellular and molecular life sciences : CMLS》2011,68(15):2525-2538
Cardiomyocytes use glucose as well as fatty acids for ATP production. These substrates are transported into the cell by glucose
transporter 4 (GLUT4) and the fatty acid transporter CD36. Besides being located at the sarcolemma, GLUT4 and CD36 are stored
in intracellular compartments. Raised plasma insulin concentrations and increased cardiac work will stimulate GLUT4 as well
as CD36 to translocate to the sarcolemma. As so far studied, signaling pathways that regulate GLUT4 translocation similarly
affect CD36 translocation. During the development of insulin resistance and type 2 diabetes, CD36 becomes permanently localized
at the sarcolemma, whereas GLUT4 internalizes. This juxtaposed positioning of GLUT4 and CD36 is important for aberrant substrate
uptake in the diabetic heart: chronically increased fatty acid uptake at the expense of glucose. To explain the differences
in subcellular localization of GLUT4 and CD36 in type 2 diabetes, recent research has focused on the role of proteins involved
in trafficking of cargo between subcellular compartments. Several of these proteins appear to be similarly involved in both
GLUT4 and CD36 translocation. Others, however, have different roles in either GLUT4 or CD36 translocation. These trafficking
components, which are differently involved in GLUT4 or CD36 translocation, may be considered novel targets for the development
of therapies to restore the imbalanced substrate utilization that occurs in obesity, insulin resistance and diabetic cardiomyopathy. 相似文献
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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome 总被引:6,自引:0,他引:6
Windpassinger C Auer-Grumbach M Irobi J Patel H Petek E Hörl G Malli R Reed JA Dierick I Verpoorten N Warner TT Proukakis C Van den Bergh P Verellen C Van Maldergem L Merlini L De Jonghe P Timmerman V Crosby AH Wagner K 《Nature genetics》2004,36(3):271-276
Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic paraparesis mapped to chromosome 11q12-q14 (SPG17) in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Silver syndrome and most forms of dHMN are autosomal dominantly inherited with incomplete penetrance and a broad variability in clinical expression. A genome-wide scan in an Austrian family with dHMN-V (ref. 4) showed linkage to the locus SPG17, which was confirmed in 16 additional families with a phenotype characteristic of dHMN or Silver syndrome. After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L. Null mutations in BSCL2, which encodes the protein seipin, were previously shown to be associated with autosomal recessive Berardinelli-Seip congenital lipodystrophy (OMIM #269700). We show that seipin is an integral membrane protein of the endoplasmic reticulum (ER). The amino acid substitutions N88S and S90L affect glycosylation of seipin and result in aggregate formation leading to neurodegeneration. 相似文献
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Histone H3 lysine 9 methylation is an epigenetic imprint of facultative heterochromatin. 总被引:20,自引:0,他引:20
Antoine H F M Peters Jacqueline E Mermoud Dónal O'Carroll Michaela Pagani Dieter Schweizer Neil Brockdorff Thomas Jenuwein 《Nature genetics》2002,30(1):77-80
Post-translational modifications of histone amino termini are an important regulatory mechanism that induce transitions in chromatin structure, thereby contributing to epigenetic gene control and the assembly of specialized chromosomal subdomains. Methylation of histone H3 at lysine 9 (H3-Lys9) by site-specific histone methyltransferases (Suv39h HMTases) marks constitutive heterochromatin. Here, we show that H3-Lys9 methylation also occurs in facultative heterochromatin of the inactive X chromosome (Xi) in female mammals. H3-Lys9 methylation is retained through mitosis, indicating that it might provide an epigenetic imprint for the maintenance of the inactive state. Disruption of the two mouse Suv39h HMTases abolishes H3-Lys9 methylation of constitutive heterochromatin but not that of the Xi. In addition, HP1 proteins, which normally associate with heterochromatin, do not accumulate with the Xi. These observations suggest the existence of an Suv39h-HP1-independent pathway regulating H3-Lys9 methylation of facultative heterochromatin. 相似文献
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One approach to study the system-wide organization of biochemistry is to use statistical graph theory. In such heavily simplified methods, which disregard most of the dynamic aspects of biochemistry, one is faced with fundamental questions. One such question is how the chemical reaction systems should be reduced to a graph retaining as much functional information as possible from the original reaction system. In these graph representations, should the edges go between substrates and products, or substrates and substrates, or both? Should vertices represent substances or reactions? Different representations encode different information about the reaction system and affect network measures in different ways. This paper investigates which representation reflects the functional organization of the metabolic system in the best way, according to the defined criteria. Four different graph representations of metabolism (three where the vertices are metabolites, one where the vertices are reactions) are evaluated using data from different organisms and databases. The graph representations are evaluated by comparing the overlap between clusters (network modules) and annotated functions, and also by comparing the set of identified currency metabolites with those that other authors have identified using qualitative biological arguments. It is found that a “substance network”, where all metabolites participating in a reaction are connected, is better than others, evaluated with respect to both the functional overlap between modules and functions and to the number and identity of the identified currency metabolites. 相似文献
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F Petter 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1978,287(4):261-264
The rediscovery and reexamination of the skull of the type of Proechimys guyannensis (E. Geoffroy; 1803) allows us to give more details about this species. It appears that a new sympatric species, P. cuvieri, has to be distinguished, which could have great implications for the leishmaniosis epidemiology in French Guiana. 相似文献
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Synaesthesia is the involuntary physical experience of a cross-modal linkage--for example, hearing a tone (the inducing stimulus) evokes an additional sensation of seeing a colour (concurrent perception). Of the different types of synaesthesia, most have colour as the concurrent perception, with concurrent perceptions of smell or taste being rare. Here we describe the case of a musician who experiences different tastes in response to hearing different musical tone intervals, and who makes use of her synaesthetic sensations in the complex task of tone-interval identification. To our knowledge, this combination of inducing stimulus and concurrent perception has not been described before. 相似文献