排序方式: 共有43条查询结果,搜索用时 31 毫秒
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Jacob J. Michaelson Yujian Shi Madhusudan Gujral Hancheng Zheng Dheeraj Malhotra Xin Jin Minghan Jian Guangming Liu Douglas Greer Abhishek Bhandari Wenting Wu Roser Corominas Áine Peoples Amnon Koren Athurva Gore Shuli Kang Guan Ning Lin Jasper Estabillo Therese Gadomski Balvindar Singh Kun Zhang Natacha Akshoomoff Christina Corsello Steven McCarroll Lilia M. Iakoucheva Yingrui Li Jun Wang Jonathan Sebat 《Cell》2012
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The large N-linked oligosaccharides released from Schizosaccharomyces pombe
by endo-beta-N-acetylglucosaminidase H were examined to determine how the
negatively chargedpyruvylated galactoses present (Gemmill,T.R., and
Trimble,R.B., 1996, J. Biol. Chem ., 271, 25945-25949) were attached to the
oligosaccharide chains. Binding of biotinylated human serum amyloid P and
peanut agglutinin to native and depyruvylated S.pombe glycoproteins,
respectively, indicated that the pyruvylated epitope was likely to be in
the beta configuration. Examination by high- field 1H NMR of whole glycans
and a disaccharide fragment released from them on partial acid hydrolysis
showed that the pyruvylated galactose species was in fact beta1,3-linked to
a second galactose, and this occurred an average of five to six times on
nominal Gal57Man64GlcNAc N- glycans. The pyruvate-2,(4,6)Gal-beta1,3Gal
epitope is chemically similar to acetaldehyde-Galbeta1,3Gal groups found on
the glycoproteins from Paramyxovirus-infected bovine kidney cells (Prehm,
P., Scheid,A. and Choppin,P.W. ,1979, J. Biol. Chem ., 254, 9669-9677). The
1:1 stoichiometry between pyruvate and beta-linked galactose in these
S.pombe glycans indicates that either pyruvate addition to terminal
beta1,3Gal is highly efficient or that pyruvylated Gal is transferred en
bloc to alpha1,2-linked Gal residues in theN-linked chains. In
contradiction to many galactomannan-producing fungi, which add substantial
amounts of Gal in the furanose form to their glycoproteins, all detectable
Gal in the large S.pombe galactomannans is in the pyranose form, as found
in higher eukaryotes. The current work shows that the S.pombe outer chain
structure is a poly-alpha1,6Man backbone 2- O-substituted with either Gal
or the pyruvylated galactobiose and contains little alpha1,2-linked or
2-O-substituted Man. This is in contrast to the S. cerevisiae outer chain,
which is poly-alpha1,6Man substituted with alpha1,2-linked Man sidechains
(Ballou,C.E. ,1990, Methods Enzymol , 185, 440-470).
相似文献
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Casey JP Magalhaes T Conroy JM Regan R Shah N Anney R Shields DC Abrahams BS Almeida J Bacchelli E Bailey AJ Baird G Battaglia A Berney T Bolshakova N Bolton PF Bourgeron T Brennan S Cali P Correia C Corsello C Coutanche M Dawson G de Jonge M Delorme R Duketis E Duque F Estes A Farrar P Fernandez BA Folstein SE Foley S Fombonne E Freitag CM Gilbert J Gillberg C Glessner JT Green J Guter SJ Hakonarson H Holt R Hughes G Hus V Igliozzi R Kim C Klauck SM Kolevzon A Lamb JA Leboyer M Le Couteur A 《Human genetics》2012,131(4):565-579
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data. 相似文献
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Pietro Palumbo Vincenzo Antona Orazio Palumbo Maria Piccione Rosaria Nardello Antonina Fontana Massimo Carella Giovanni Corsello 《Gene》2014
Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer–Rokitansky–Küster–Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. 相似文献
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Nancy Beyer David TR Coulson Shirley Heggarty Rivka Ravid G Brent Irvine Jan Hellemans Janet A Johnston 《Molecular neurodegeneration》2009,4(1):1-10
Extensive genetic, biochemical, and histological evidence has implicated the amyloid-β peptide (Aβ) in Alzheimer's disease pathogenesis, and several mechanisms have been suggested, such as metal binding, reactive oxygen species production, and membrane pore formation. However, recent evidence argues for an additional role for signaling mediated by the amyloid precursor protein, APP, in part via the caspase cleavage of APP at aspartate 664. Here we review the effects and implications of this cleavage event, and propose a model of Alzheimer's disease that focuses on the critical nature of this cleavage and its downstream effects. 相似文献
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