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Objectives
Progressive dementia is a rare phenotypic feature of female X-ALD carriers. Even rarer is the additional presence of further risk factors for dementia, such as diabetes, hypothyroidism, and hepatopathy. We report a unique female X-ALD carrier presenting with severe, progressive dementia, paraspasticity, sphincteric dysfunction, and multisystem disease.Case report
A 79 years-old female with a history of strumectomy, diabetes, hepatopathy, hypothyroidism, arterial hypertension, hiatal hernia, left retinal ablation, ovariectomy, hysterectomy, osteoporosis, bilateral hip endoprosthesis, and neurogenic bladder dysfunction developed slowly progressive cognitive decline since age of 77 years. She had been identified as a female carrier of X-ALD in 12/2010 upon a family screening. At age of 79 years she presented with severe dementia, anxiety, unsteadiness, helplessness, hypertelorism, exaggerated patella tendon reflexes, reduced Achilles tendon reflexes, club feet, contractures of the ankles, the knees, and the hips, and the inability to stay or walk. Cerebral CT showed diffuse atrophy, demyelination periventricularly, small lacunas in the basal ganglia, and small calcifications of the basal ganglia and the temporal lobe on the right side. Differential diagnoses of dementia were considered but were all excluded upon the clinical presentation, blood chemical investigations, imaging studies, and the pattern of neuropsychological deficits.Conclusions
With progression of the disease manifesting X-ALD carriers may develop progressive severe dementia, severe paraspasticity, and sphincteric dysfunction. Female carriership of X-ALD can be a differential diagnosis of dementia. 相似文献2.
本研究旨在筛选调控北极狐毛色基因CBD103的启动子活性区域及转录因子结合位点,为揭示CBD103基因调控北极狐毛色形成的分子遗传机制提供依据。克隆获得了北极狐CBD103基因5′侧翼区2 123 bp的片段,并构建了4个不同长度的启动子缺失片段表达载体,通过双荧光素酶检测系统对启动子活性进行检测。对启动子活性最高区域预测出的3个特异性蛋白1 (Sp1)转录因子结合位点分别进行点突变并构建3个突变载体,利用双荧光素酶检测系统测定其活性。结果显示,在构建的4个不同长度启动子缺失片段中1 656 (-1 604/+51)区域活性最高,在此区域构建的3个突变载体的启动子活性较野生型(片段1 656)均显著降低,说明-1 604/+51区域为北极狐CBD103基因的核心启动子区,-1 552/-1 564、-1 439/-1 454和-329/-339区域为正调控区域。文中成功获得了北极狐CBD103基因的核心启动子区域和正调控区域,这为进一步研究该基因调控北极狐被毛颜色分子遗传机制奠定了基础。 相似文献
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The endoglycosidase (EndoS and its glycosynthase mutants D233A, D233Q) gene was fused with cellulose binding domain (CBD) using pET-35b vector and the fusion enzymes were successfully expressed in Escherichia coli. Then a simplified approach for one-step immobilization and purification of EndoS enzymes using cellulose as matrices were developed and excellent loading efficiency (81–90%) was achieved in optimal condition. The cellulose immobilized CBD-EndoS and the glycosynthase mutants presented high catalytic activity and were successfully applied in a two-step antibody Fc N-glycan remodeling, generating a therapeutic antibody with homogeneous glycoform in high efficiency. The cellulose immobilized CBD-EndoS and its mutants (D233A and D233Q) displayed excellent storage stability when stored at 4 degrees for one month. Reusability studies demonstrated that the cellulose immobilized CBD-EndoS and its mutants could be recycled for five times without obvious activity loss. 相似文献
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Erwin Beck 《当今生物学》2015,45(2):98-105
Biodiversity and biodiversity politics Extrapolations for a range of indicators suggest that based on current trends, pressures on biodiversity will continue to increase (Global Biodiversity Outlook 4, 2014). Since services of nature, like fertile soil, clear water and clean air are achieved by consortia of organisms rather than by individual species, they are already endangered. This holds, in spite of the fact, that only 10% of the earth's organisms are known to science and that therefore the loss caused by global change cannot be reliably quantified. Today, science develops new methods for recording consortia of coexisting organisms in a habitat. With the Convention on Biological Diversity, biodiversity has become a matter of politics which is welcome with respect to species and habitat conservation, but the concern of biopiracy creates bureaucratic hurdles hindering research. The most recent achievement is IPBES (Intergovernmental Platform on Biodiversity and Ecosystem Services, Bonn), which strives to bring more science into biodiversity politics. 相似文献
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利用真菌纤维素结合域(CBD)保守性序列进行草菇木聚糖酶cDNA的克隆 总被引:3,自引:0,他引:3
木聚糖是植物细胞壁的主要组分,它是木糖以β1 ,4 木糖苷键形成主链,乙酰基,阿拉伯糖基等为附链组成的复合多聚糖.木聚糖酶可以降解木聚糖主链,在木聚糖的生物降解中起着非常重要的作用[1 ] .根据木聚糖酶催化域(catalyticdomain ,CD)氨基酸序列的相似性,木聚糖酶可分为两个家 相似文献
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Jacob A. Toth George M. Stack Ali R. Cala Craig H. Carlson Rebecca L. Wilk Jamie L. Crawford Donald R. Viands Glenn Philippe Christine D. Smart Jocelyn K. C. Rose Lawrence B. Smart 《Global Change Biology Bioenergy》2020,12(3):213-222
Hemp (Cannabis sativa L.) is an emerging dioecious crop grown primarily for grain, fiber, and cannabinoids. There is good evidence for medicinal benefits of the most abundant cannabinoid in hemp, cannabidiol (CBD). For CBD production, female plants producing CBD but not tetrahydrocannabinol (THC) are desired. We developed and validated high‐throughput PACE (PCR Allele Competitive Extension) assays for C. sativa plant sex and cannabinoid chemotype. The sex assay was validated across a wide range of germplasm and resolved male plants from female and monoecious plants. The cannabinoid chemotype assay revealed segregation in hemp populations, and resolved plants producing predominantly THC, predominantly CBD, and roughly equal amounts of THC and CBD. Cultivar populations that were thought to be stabilized for CBD production were found to be segregating phenotypically and genotypically. Many plants predominantly producing CBD accumulated more than the current US legal limit of 0.3% THC by dry weight. These assays and data provide potentially useful tools for breeding and early selection of hemp. 相似文献
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Moshe Giladi Liron Boyman Helen Mikhasenko Reuben Hiller Daniel Khananshvili 《The Journal of biological chemistry》2010,285(36):28117-28125
In NCX proteins CBD1 and CBD2 domains are connected through a short linker (3 or 4 amino acids) forming a regulatory tandem (CBD12). Only three of the six CBD12 Ca2+-binding sites contribute to NCX regulation. Two of them are located on CBD1 (Kd = ∼0.2 μm), and one is on CBD2 (Kd = ∼5 μm). Here we analyze how the intrinsic properties of individual regulatory sites are affected by linker-dependent interactions in CBD12 (AD splice variant). The three sites of CBD12 and CBD1 + CBD2 have comparable Kd values but differ dramatically in their Ca2+ dissociation kinetics. CBD12 exhibits multiphasic kinetics for the dissociation of three Ca2+ ions (kr = 280 s−1, kf = 7 s−1, and ks = 0.4 s−1), whereas the dissociation of two Ca2+ ions from CBD1 (kf = 16 s−1) and one Ca2+ ion from CBD2 (kr = 125 s−1) is monophasic. Insertion of seven alanines into the linker (CBD12–7Ala) abolishes slow dissociation of Ca2+, whereas the kinetic and equilibrium properties of three Ca2+ sites of CBD12–7Ala and CBD1 + CBD2 are similar. Therefore, the linker-dependent interactions in CBD12 decelerate the Ca2+ on/off kinetics at a specific CBD1 site by 50–80-fold, thereby representing Ca2+ “occlusion” at CBD12. Notably, the kinetic and equilibrium properties of the remaining two sites of CBD12 are “linker-independent,” so their intrinsic properties are preserved in CBD12. In conclusion, the dynamic properties of three sites are specifically modified, conserved, diversified, and integrated by the linker in CBD12, thereby generating a wide range dynamic sensor. 相似文献
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Fredy D.A. Silva Ilka M. Vasconcelos Marina D.P. Lobo Patrícia G. de Castro Vladimir G. Magalhães Cléverson D.T. de Freitas Célia R.R.S. Carlini Paulo M. Pinto Leila M. Beltramini José H.A. Filho Eduardo B. Barros Luciana M.R. Alencar Thalles B. Grangeiro José T.A. Oliveira 《Biochimica et Biophysica Acta (BBA)/General Subjects》2012