Abstract:
:MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is a mitochondrial disease caused by one or more mutations of tRNA(Leu(UUR)). These mutations reduce both the aminoacylation of tRNA(Leu(UUR)) and a posttranslational modification in the wobble position of tRNA(Leu(UUR)). Both changes result in reduced transcription of mitochondria-encoded proteins; however, reduced aminoacylation affects the decoding of both UUG and UUA while the wobble defect specifically diminishes UUG decoding. Because 12 out of the 13 mitochondria-encoded proteins are more dependent on UUA decoding than UUG decoding, the aminoacylation defect should have a more profound effect on protein synthesis than the wobble defect, which more specifically alters the expression of one mitochondria-encoded protein, ND6. Taurine serves as a substrate in the formation of 5-taurinomethyluridine-tRNA(Leu(UUR)); therefore, taurine deficiency should mimic 5-taurinomethyluridine-tRNA(Leu(UUR)) deficiency. Hence, the wobble hypothesis predicts that the symptoms of MELAS mimic those of taurine deficiency, provided that the dominant defect in MELAS is wobble modification deficiency. On the other hand, if the aminoacylation defect dominates, significant differences should exist between taurine deficiency and MELAS. The present review tests this hypothesis by comparing the symptoms of MELAS and taurine deficiency.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Schaffer SW,Jong CJ,Warner D,Ito T,Azuma Jdoi
10.1007/978-1-4614-6093-0_16subject
Has Abstractpub_date
2013-01-01 00:00:00pages
153-65eissn
0065-2598issn
2214-8019journal_volume
776pub_type
杂志文章,评审abstract::Free radicals are critical contributors in various conditions including normal aging, Alzheimer's disease, cancer, and diabetes. Currently there is no non-invasive approach to image tissue free radicals based on endogenous contrast due to their extremely short lifetimes and low in vivo concentrations. In this study we...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-3-319-55231-6_11
更新日期:2017-01-01 00:00:00
abstract::Relative to the role of viruses in the pathogenesis of atherosclerosis a number of questions remain to be answered. Being ubiquitous, are the herpesvirus infections the norm or a diseased state in humans and animals? In all cases studied, including MDV induced atherosclerosis, direct isolation of viruses from arterial...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-1-4615-1957-7_9
更新日期:1995-01-01 00:00:00
abstract::The atomic force microscope (AFM) is a powerful tool for imaging biological molecules on a substrate, in solution. However, there is no effective time axis with AFM; commercially available AFMs require minutes to capture an image, but many interesting biological processes occur at much higher rate. Hence, what we can ...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4419-9029-7_11
更新日期:2003-01-01 00:00:00
abstract::The CD1 system is composed of five types of human CD1 proteins, CD1a, CD1b, CD1c, CD1d, and CD1e, and their mammalian orthologs. Each type of CD1 protein has a distinct antigen binding groove and shows differing patterns of expression within cells and in different tissues. Here we review the molecular mechanisms by wh...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-1-4614-6111-1_10
更新日期:2013-01-01 00:00:00
abstract::Intraperitoneal treatment with the enzyme inhibitor, pepstatin, of BSVS mice, guinea pigs and Lewis rats which were sensitized with guinea pig spinal cord and pertussis vaccine resulted in complete or partial suppression of paralysis dependent on the species studied and alterations of histological signs of experimenta...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4684-8914-9_30
更新日期:1979-01-01 00:00:00
abstract::The identification and characterization of microRNAs (miRNAs) is a rapidly growing area of research also in dermatology. Skin represents the largest organ in the human body, and its morphogenesis has been shown to require a highly coordinated and undisrupted miRNA profile. High expression of several miRNAs in the epid...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-3-319-22671-2_16
更新日期:2015-01-01 00:00:00
abstract::The aim of any pancreatic islet isolation is obtaining pure, viable and functional pancreatic islets, either for in vitro or in vivo purposes. The islets of Langerhans are complex microorgans with the important role of regulating glucose homeostasis. Imbalances in glucose homeostasis lead to diabetes, which is defined...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-3-319-39824-2_3
更新日期:2016-01-01 00:00:00
abstract::Initial attempts to model urinary folate reabsorption using cultures of HPT cells on porous filter inserts produced disappointing results in that large amounts of 5M were transported across the epithelial monolayer in a nonspecific manner. Since the impermeable molecule inulin was also transported, there apparently ex...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4615-2960-6_155
更新日期:1993-01-01 00:00:00
abstract::Aldehyde dehydrogenases are a family of enzymes that oxidize aldehydes to carboxylic acids. These enzymes are important in cellular homeostasis during oxidative stress by the elimination of toxic aldehyde by-products from various cellular processes. In osteosarcoma, aldehyde dehydrogenase 1A1has been described as a ca...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-3-030-43085-6_10
更新日期:2020-01-01 00:00:00
abstract::In summary, it can be said that in spite of possible limitations, this technique provides previously unattainable data on capillary flow pattern in the myocardium. Qualitative and quantitative results indicate that the following anatomical and physiological concepts should be incorporated in any further modelling of o...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4615-9510-6_53
更新日期:1988-01-01 00:00:00
abstract::A great many methods are available for the concentration of biosurfactants from microbiological media. The strongest known biosurfactant, surfactin, serves as a model in many studies, so is used here to illustrate the diversity in approaches to product enrichment. Common physiochemical properties mean that many of the...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-1-4419-5979-9_21
更新日期:2010-01-01 00:00:00
abstract::The metabolic properties of cancer cells have been widely accepted as a hallmark of cancer for a number of years and have shown to be of critical importance in tumour development. It is generally accepted that tumour cells exhibit a more glycolytic phenotype than normal cells. In this study, we investigate the bioener...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4939-3023-4_32
更新日期:2016-01-01 00:00:00
abstract::The chromatin of male germ cells is restructured throughout spermatogenesis. Analysis of differential histone protein patterns at specific stages of spermatogenesis may contribute towards an understanding of the changes in chromatin structure and function during this differentiation process. The most striking changes ...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-1-4615-5913-9_4
更新日期:1997-01-01 00:00:00
abstract::cDNA clones mapping within the first 2601 bases of the 3' end of the TGEV genome were sequenced completely or in part by the method of Maxam and Gilbert and open reading frames were examined. One reading frame yielding a protein having properties of the matrix (M) protein was identified. It is positioned at the immedi...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4684-1280-2_13
更新日期:1987-01-01 00:00:00
abstract::Multiple myeloma is a hematological malignancy. It is characterized by the abnormal clonal proliferation of malignant plasma cells in the bone marrow and the secretion of a large number of monoclonal immunoglobulins or light chains, causing bone destruction, elevated blood calcium levels, anemia, and renal dysfunction...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-981-15-4272-5_45
更新日期:2020-01-01 00:00:00
abstract::Humoral immunity provides protection from pathogen infection, and this is mediated by antibodies that are produced by plasma cells. Plasma cells are terminally differentiated from activated B cells and are specialized for secreting antibodies. Plasma cells are generated during extrafollicular or germinal center (GC) r...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-981-15-3532-1_6
更新日期:2020-01-01 00:00:00
abstract::For many years, the nuclear envelope was viewed as a passive barrier that separates the genetic material in the nucleus from the cytoplasm of the cell and permits regulated trafficking of various molecules through the nuclear pores. Research in the past two decades has shown that the nuclear envelope is a complex cell...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-1-4899-8032-8_10
更新日期:2014-01-01 00:00:00
abstract::Case reports are defined as the scientific documentation of a single clinical observation and have a time-honored and rich tradition in medicine and scientific publication. Case reports represent a relevant, timely, and important study design in advancing medical scientific knowledge especially of rare diseases. While...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-90-481-9485-8_5
更新日期:2010-01-01 00:00:00
abstract::In order to obtain evidence that Mb releases O(2) during muscle contraction, we have set up a buffer-perfused hindlimb rat model and applied NIRS to detect the dynamics of tissue deoxygenation during contraction. The NIRS signal was monitored on hindlimb muscle during twitch contractions at 1 Hz, evoked via electrosti...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4419-1241-1_46
更新日期:2010-01-01 00:00:00
abstract::HRQOL assessment in patients with rare diseases can help to identify health needs, to evaluate the impact of disease and treatments, and to assess the evolution in health status through the natural history of disease. Several studies have shown that although some rare diseases do not necessarily affect life expectancy...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-90-481-9485-8_15
更新日期:2010-01-01 00:00:00
abstract::Proteoglycans consist of a protein core to which at least one glycosaminoglycan chain is attached. They play important roles in the physiology and biomechanical function of tendons, ligaments and cardiovascular system through their involvement in regulation of assembly and maintenance of extracellular matrix, and as t...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-94-007-7893-1_4
更新日期:2014-01-01 00:00:00
abstract::We have described our current criteria for selecting those patients with acute V T-E who merit long-term protection, for accomplishing the acute to long-term transition efficiently and for deciding when such protection can be interrupted. Naturally, in individual patients, special circumstances may exist which alter t...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-1-4757-5985-3_17
更新日期:1987-01-01 00:00:00
abstract::Advances in consumer-level educational technologies show great promise for enhancing the learning experiences of students in health and medicine. There are particular benefits to using a combination of various devices and technologies when teaching challenging concepts. These include augmented reality-enabled devices ...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-3-030-31904-5_5
更新日期:2019-01-01 00:00:00
abstract::The protooncogene c-src is implicated in the development of the vertebrate nervous system. Its product pp60c-src is a tyrosine-specific protein kinase that is expressed in two phases of neural development. An activated form of the pp60c-src is highly enriched in the membrane of nerve growth cones and in the proximal n...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-1-4757-5876-4_10
更新日期:1990-01-01 00:00:00
abstract::In vivo imaging/spectroscopic biomarkers for solid tumor aggressiveness are needed in the clinic to facilitate cancer diagnosis and treatment strategies. In mouse models of human melanoma and breast cancer, we were able to detect the metabolic differences among tumors of different metastatic potential and between norm...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4614-7411-1_32
更新日期:2013-01-01 00:00:00
abstract::We report that rat RT6.2 and recombinant mouse Rt6 locus 1 proteins possess auto-ADP-ribosyltransferase activity and that Rt6, but not RT6, catalyzes the ADP-ribosylation of exogenous histones. Based on NH2OH sensitivity, it appeared that the ADP-ribose was attached to arginine residues on proteins. We also observed t...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::Rare diseases, including those of genetic origin, are defined by the European Union as life-threatening or chronically debilitating diseases which are of such low prevalence (less than 5 per 10,000). The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - sing...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章,评审
doi:10.1007/978-90-481-9485-8_25
更新日期:2010-01-01 00:00:00
abstract::Mitochondrial ATPase and adenylate kinase activity of hepatoma cells were inhibited by hematoporphyrin derivative (HPD) followed by photoirradiation. Inhibition of ATPase activity was a dose- and time-related event. Malonaldehyde (MDA) content of mitochondrial membranes was markedly increased by HPD plus light. The co...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4613-2165-1_19
更新日期:1985-01-01 00:00:00
abstract::Kallikreins were localized in the human parotid gland and in the human kidney from two different aspects of the enzyme: the enzyme antigenicity and the enzyme activity. In the human parotid gland, the kallikrein antigenicity and the enzyme activity were identical in their locations in the ductal cells. In the human ki...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4684-5143-6_4
更新日期:1986-01-01 00:00:00
abstract::P-ANCA that do not react with myeloperoxidase (MPO) have been claimed to serve as a useful diagnostic marker in the differential diagnosis of inflammatory bowel disease (IBD). Therefore, in this study we determined the frequency of MPO-negative-p-ANCA in patients with inflammatory bowel disease and correlated the pres...
journal_title:Advances in experimental medicine and biology
pub_type: 杂志文章
doi:10.1007/978-1-4757-9182-2_96
更新日期:1993-01-01 00:00:00