排序方式: 共有6条查询结果,搜索用时 78 毫秒
1
1.
Karakaya Songul Göger Gamze Bona Gülnur Ekşi Yuca Hafize Aydın Bilge Tekman Enes Şahin Aydan Acar Pınar Nur Münevver Güvenalp Zühal 《Protoplasma》2022,259(6):1493-1506
Protoplasma - Colchicum speciosum Steven species is a perennial stemless plant. C. speciosum is a flowering herb native to mountainous regions of northern Turkey, the Caucasus, and northern Iran.... 相似文献
2.
Niccolo E. Mencacci Ignacio Rubio-Agusti Anselm Zdebik Friedrich Asmus Marthe H.R. Ludtmann Mina Ryten Vincent Plagnol Ann-Kathrin Hauser Sara Bandres-Ciga Conceição Bettencourt Paola Forabosco Deborah Hughes Marc M.P. Soutar Kathryn Peall Huw R. Morris Daniah Trabzuni Mehmet Tekman Horia C. Stanescu Robert Kleta Miryam Carecchio Giovanna Zorzi Nardo Nardocci Barbara Garavaglia Ebba Lohmann Anne Weissbach Christine Klein John Hardy Alan M. Pittman Thomas Foltynie Andrey Y. Abramov Thomas Gasser Kailash P. Bhatia Nicholas W. Wood 《American journal of human genetics》2015,96(6):938-947
Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%–50% of cases. After excluding SGCE mutations, we identified through a combination of linkage analysis and whole-exome sequencing KCTD17 c.434 G>A p.(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screening in a cohort of M-D cases without mutations in SGCE revealed the same KCTD17 variant in a German family. The clinical presentation of the KCTD17-mutated cases was distinct from the phenotype usually observed in M-D due to SGCE mutations. All cases initially presented with mild myoclonus affecting the upper limbs. Dystonia showed a progressive course, with increasing severity of symptoms and spreading from the cranio-cervical region to other sites. KCTD17 is abundantly expressed in all brain regions with the highest expression in the putamen. Weighted gene co-expression network analysis, based on mRNA expression profile of brain samples from neuropathologically healthy individuals, showed that KCTD17 is part of a putamen gene network, which is significantly enriched for dystonia genes. Functional annotation of the network showed an over-representation of genes involved in post-synaptic dopaminergic transmission. Functional studies in mutation bearing fibroblasts demonstrated abnormalities in endoplasmic reticulum-dependent calcium signaling. In conclusion, we demonstrate that the KCTD17 c.434 G>A p.(Arg145His) mutation causes autosomal dominant M-D. Further functional studies are warranted to further characterize the nature of KCTD17 contribution to the molecular pathogenesis of M-D. 相似文献
3.
Tekman B Ozdemir H Senturk M Ciftci M 《Comparative biochemistry and physiology. Toxicology & pharmacology : CBP》2008,148(2):117-121
Glutathione reductase (E C: 1.8.1.7; GR) was purified from rainbow trout (Oncorhynchus mykiss) liver, and some characteristics of the enzyme were investigated. The purification procedure consisted of four steps: preparation of homogenate, ammonium sulfate fractionation, affinity chromatography on 2',5'-ADP Sepharose-4B and gel filtration chromatography on Sephadex G-200. The enzyme, with a specific activity of 27.45 U/mg protein, was purified 1,654-fold with a yield of 41%. Optimal pH, stable pH, optimal temperature, optimum ionic strength, molecular mass, KM and Vmax values for GSSG and NADPH were also determined for the enzyme. In addition, Ki values and inhibition types were determined for GSH and NADP+. Additionally, inhibitory effects of metal ions (Cd+2, Cu+2, Pb+2, Hg+2, Fe+3 and Al+3) on glutathione reductase were investigated. Ki constants and IC50 values for metal ions were determined by Lineweaver-Burk graphs and plotting activity % vs. [I], respectively. IC50 values of Cd+2,Cu+2, Pb+2, Hg+2, Fe+3 and Al+3 were 0.0655, 0.082, 0.122, 0.509, 0.797 and 0.804 mM, and the Ki constants for Cd+2 and Cu+2 were 0.104+/-0.001, 0.117+/-0.001, respectively. 相似文献
4.
5.
Hafize Yuca Assoc. Songul Karakaya Assoc. Gülnur Ekşi Bilge Aydin Assoc. Gamze Goger Assoc. Mehmet Bona Enes Tekman Aydan Acar Şahin Prof. Oksana Sytar Prof. Nur Münevver Pinar Prof. Zuhal Guvenalp 《化学与生物多样性》2023,20(9):e202300416
Gagea genus, which is native to the Mediterranean and Black Sea regions, has attracted significant attention due to its biodiversity and potential health benefits. In this study, the biochemical composition and biological activities of methanol extracts from various parts of G. taurica were investigated, along with their anatomical and morphological characteristics. The best antimicrobial activity was found to be MeOH extracts of corm and leaf against several Candida strains with MIC=640 μg/mL. The highest level of phenolics together with significant results of antioxidant activities were observed in flowers extracts. The α-amylase inhibition assay results showed that the highest inhibition percentage was observed with acarbose (59 %), followed by leaf extract (43 %). Leaf exhibited the most effective inhibitory activity in AChE inhibition assay, whereas flower demonstrated the most significant inhibitory activity in BChE inhibition assay. Hesperidin was found as 1621.0001 ng/ml value in flower extract and 283.9339 ng/ml value leaf. 相似文献
6.
Aydın Bilge Yuca Hafize Karakaya Songul Bona Gülnur Ekşi Göger Gamze Tekman Enes Şahin Aydan Acar Sytar Oksana Civas Ayşe Canlı Deniz Pınar Nur Münevver Guvenalp Zuhal 《Protoplasma》2023,260(2):371-389
Protoplasma - Scilla siberica subsp. armena is known as Siberian Squill which is naturally distributed in Lebanon-Syria, Transcaucasus, and Turkey. It is a perennial bulbous plant with a short... 相似文献
1