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The effect of diethyl pyrocarbonate on chromatophores and isolated pigment--protein complexes of Chromatium minutissimum was studied. It is shown that modification of histidine residues results in the destruction of the core antenna LHI (B880) and in a spectral shift from 850 to 830 nm in the peripheral antenna LHII (B800-850). In the purple sulfur bacterium Chromatium minutissimum the pigment--protein complexes B800-B850 (peripheral antenna, LHII) and B880 (core antenna, LHI) collect and transmit the absorbed light energy to the reaction centers. The composition of pigments and proteins as well as primary structure of the majority of polypeptides in both types of complexes from various photosynthetic bacteria have been determined. 相似文献
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Jens O. Watzlawik Xu Hou Dominika Fricova Chloe Ramnarine Sandeep K. Barodia Tania F. Gendron Michael G. Heckman Michael DeTure Joanna Siuda Zbigniew K. Wszolek Clemens R. Scherzer Owen A. Ross Guojun Bu Dennis W. Dickson Matthew S. Goldberg Fabienne C. Fiesel Wolfdieter Springer 《Autophagy》2021,17(9):2613
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Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms 下载免费PDF全文
Melquist S Craig DW Huentelman MJ Crook R Pearson JV Baker M Zismann VL Gass J Adamson J Szelinger S Corneveaux J Cannon A Coon KD Lincoln S Adler C Tuite P Calne DB Bigio EH Uitti RJ Wszolek ZK Golbe LI Caselli RJ Graff-Radford N Litvan I Farrer MJ Dickson DW Hutton M Stephan DA 《American journal of human genetics》2007,80(4):769-778
To date, only the H1 MAPT haplotype has been consistently associated with risk of developing the neurodegenerative disease progressive supranuclear palsy (PSP). We hypothesized that additional genetic loci may be involved in conferring risk of PSP that could be identified through a pooling-based genomewide association study of >500,000 SNPs. Candidate SNPs with large differences in allelic frequency were identified by ranking all SNPs by their probe-intensity difference between cohorts. The MAPT H1 haplotype was strongly detected by this methodology, as was a second major locus on chromosome 11p12-p11 that showed evidence of association at allelic (P<.001), genotypic (P<.001), and haplotypic (P<.001) levels and was narrowed to a single haplotype block containing the DNA damage-binding protein 2 (DDB2) and lysosomal acid phosphatase 2 (ACP2) genes. Since DNA damage and lysosomal dysfunction have been implicated in aging and neurodegenerative processes, both genes are viable candidates for conferring risk of disease. 相似文献
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Rutherford NJ Zhang YJ Baker M Gass JM Finch NA Xu YF Stewart H Kelley BJ Kuntz K Crook RJ Sreedharan J Vance C Sorenson E Lippa C Bigio EH Geschwind DH Knopman DS Mitsumoto H Petersen RC Cashman NR Hutton M Shaw CE Boylan KB Boeve B Graff-Radford NR Wszolek ZK Caselli RJ Dickson DW Mackenzie IR Petrucelli L Rademakers R 《PLoS genetics》2008,4(9):e1000193
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative conditions: the TDP-43 proteinopathies. The first pathogenic mutations in the gene encoding TDP-43 (TARDBP) were recently reported in familial and sporadic ALS patients, supporting a direct role for TDP-43 in neurodegeneration. In this study, we report the identification and functional analyses of two novel and one known mutation in TARDBP that we identified as a result of extensive mutation analyses in a cohort of 296 patients with variable neurodegenerative diseases associated with TDP-43 histopathology. Three different heterozygous missense mutations in exon 6 of TARDBP (p.M337V, p.N345K, and p.I383V) were identified in the analysis of 92 familial ALS patients (3.3%), while no mutations were detected in 24 patients with sporadic ALS or 180 patients with other TDP-43-positive neurodegenerative diseases. The presence of p.M337V, p.N345K, and p.I383V was excluded in 825 controls and 652 additional sporadic ALS patients. All three mutations affect highly conserved amino acid residues in the C-terminal part of TDP-43 known to be involved in protein-protein interactions. Biochemical analysis of TDP-43 in ALS patient cell lines revealed a substantial increase in caspase cleaved fragments, including the approximately 25 kDa fragment, compared to control cell lines. Our findings support TARDBP mutations as a cause of ALS. Based on the specific C-terminal location of the mutations and the accumulation of a smaller C-terminal fragment, we speculate that TARDBP mutations may cause a toxic gain of function through novel protein interactions or intracellular accumulation of TDP-43 fragments leading to apoptosis. 相似文献
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Chartier-Harlin MC Dachsel JC Vilariño-Güell C Lincoln SJ Leprêtre F Hulihan MM Kachergus J Milnerwood AJ Tapia L Song MS Le Rhun E Mutez E Larvor L Duflot A Vanbesien-Mailliot C Kreisler A Ross OA Nishioka K Soto-Ortolaza AI Cobb SA Melrose HL Behrouz B Keeling BH Bacon JA Hentati E Williams L Yanagiya A Sonenberg N Lockhart PJ Zubair AC Uitti RJ Aasly JO Krygowska-Wajs A Opala G Wszolek ZK Frigerio R Maraganore DM Gosal D Lynch T Hutchinson M Bentivoglio AR Valente EM Nichols WC Pankratz N 《American journal of human genetics》2011,(3):140-406
Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease. 相似文献
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Oswaldo Lorenzo-Betancor Kotaro Ogaki Alexandra Soto-Ortolaza Catherine Labbé Carles Vilari?o-Güell Alex Rajput Ali H. Rajput Pau Pastor Sara Ortega Elena Lorenzo Audrey J. Strongosky Jay A. van Gerpen Ryan J. Uitti Zbigniew K. Wszolek Owen A. Ross 《PloS one》2014,9(11)
Background and Objective
Genes encoding RNA-binding proteins, including FUS and TDP43, play a central role in different neurodegenerative diseases such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Recently, a mutation located in the nuclear export signal (NES) of the FUS gene has been reported to cause an autosomal dominant form of familial Essential tremor.Material and Methods
We sequenced the exons coding the NES domains of five RNA-binding proteins (TARDBP, hnRNPA2B1, hnRNPA1, TAF15 and EWSR1) that have been previously implicated in neurodegeneration in a series of 257 essential tremor (ET) cases and 376 healthy controls. We genotyped 404 additional ET subjects and 510 healthy controls to assess the frequency of the EWSR1 p.R471C substitution.Results
We identified a rare EWSR1 p.R471C substitution, which is highly conserved, in a single subject with familial ET. The pathogenicity of this substitution remains equivocal, as DNA samples from relatives were not available and the genotyping of 404 additional ET subjects did not reveal any further carriers. No other variants were observed with significant allele frequency differences compared to controls in the NES coding regions.Conclusions
The present study demonstrates that the NES domains of RNA-binding proteins are highly conserved. The role of the EWSR1 p.R471C substitution needs to be further evaluated in future studies. 相似文献9.
P. T. Holland B. R. Simoneit P. C. Wszolek A. L. Burlingame 《Origins of life and evolution of the biosphere》1972,3(4):551-561
The gases released on DF dissolution of a variety of samples have been studied by gas chromatography and high resolution mass spectrometry. Results on Apollo 12 samples confirm previous observations that CH4 and C2H6 are released as well as CD4, C2D4, C2D6 and higher deuterated hydrocarbons. The yields correlate with the total carbon content of the samples and the CH4 and C2H6 released may be regarded as indigenous while the deuterated products result from hydrolysis of carbide material. Dissolutions were also performed on five size fractions of sample 14240,5, ranging from >420 to <37 . The yields of CH4, CD4,20Ne and36Ar correlate with the surface area and therefore probably arise from solar wind implantation. Other deuterocarbons released include C2D4, C2D6, C3D6, C3D8 and C4D10. Preliminary pyrolysis results of these size differentiated samples confirmed the presence and surface correlation of the CH4,20Ne and36Ar. Dissolution of the 14148, 14156 and 14149 trench samples showed that their carbon chemistry and solar wind exposure are very similar to that of the 14240 SESC and Apollo 11 and 12 fines of high carbon content. Other interesting components released from the soil samples by DF include D2S, DCN and CS2.This paper is an amplified version of the comments made by Dr Holland during the discussions at the meeting on Lunar Analysis: Significance for Exobiology, held at College Park, Maryland, October 26–28, 1971. 相似文献
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Carrasquillo MM Belbin O Hunter TA Ma L Bisceglio GD Zou F Crook JE Pankratz VS Sando SB Aasly JO Barcikowska M Wszolek ZK Dickson DW Graff-Radford NR Petersen RC Passmore P Morgan K;Alzheimer's Research UK 《Molecular neurodegeneration》2011,6(1):54-9