Search results for "eNOS"

Modeling ATP protonation and activity coefficients in NaClaq and KClaq by SIT and Pitzer equations.

2006

Abstract The acid–base properties of Adenosine 5′-triphosphate (ATP) in NaCl and KCl aqueous solutions at different ionic strengths (0  I  / mol L − 1  ≤ 5 for NaCl aq , 0  I  / mol L − 1  ≤ 3 for KCl aq ) and at t  = 25 °C were investigated. A selection of literature data on ATP protonation constants and on activity isopiestic coefficients was performed, together with new potentiometric measurements (by ISE-H + , glass electrode). Both literature and new experimental data were used to model the dependence on ionic strength and ionic medium of ATP protonation by SIT (Specific ion Interaction Theory) and Pitzer equations. In addition to values of first and second ATP protonation constants in…

Cardiac Computed Tomography Angiography Follow-Up of Resorbable Magnesium Scaffolds.

2021

Abstract Introduction An ancillary advantage of bioresorbable scaffolds is the possibility of non-invasive imaging assessment of the treated coronary segment. Cardiac computed tomography angiography (CCTA) studies of resorbable magnesium scaffolds (RMS) are scarce. Methods In this collaborative, international study, nine patients who had an RMS implanted underwent CCTA as part of follow-up assessment. Core-lab blinded quantitative and qualitative assessment was performed by an independent CCTA investigator. Results Eight studies were amenable for quantitative analysis, and the blinded CT investigator successfully located and evaluated patency of RMS in all cases. The CCTA follow-up in-scaff…

2020

(1) Background: Knowledge about predictors for the long-time patency of recanalized chronic total coronary occlusions (CTOs) is limited. Evidence from invasive follow-up in the absence of acute coronary syndrome (routine surveillance coronary angiography) is scarce. (2) Methods: In a monocentric-retrospective analysis, we obtained baseline as well as periprocedural data of patients undergoing routine invasive follow-up. We defined target vessel failure (TVF) as a combined primary endpoint, consisting of re-occlusion, restenosis, and target vessel revascularization (TVR). (3) Results: We included 93 consecutive patients (15.1% female) from October 2013 to May 2018. After a follow-up period o…

Novel mutations of the MET proto-oncogene in papillary renal carcinomas.

1999

Hereditary papillary renal carcinoma (HPRC) is characterized by multiple, bilateral papillary renal carcinomas. Previously, we demonstrated missense mutations in the tyrosine kinase domain of the MET proto-oncogene in HPRC and a subset of sporadic papillary renal carcinomas. In this study, we screened a large panel of sporadic papillary renal carcinomas and various solid tumors for mutations in the MET proto-oncogene. Summarizing these and previous results, mutations of the MET proto-oncogene were detected in 17/129 sporadic papillary renal carcinomas but not in other solid tumors. We detected five novel missense mutations; three of five mutations were located in the ATP-binding region of t…

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

2020

BackgroundThe regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is almost ubiquitous in these disorders, the constellation of additional features characterizing many of these genes and the emerging clinical overlap among them indicate the existence of a community of syndromes. The introduction of high-throughput next generation sequencing (NGS) methods f…

Age affects myosin relaxation states in skeletal muscle fibers of female but not male mice

2018

The recent discovery that myosin has two distinct states in relaxed muscle–disordered relaxed (DRX) and super-relaxed (SRX)–provides another factor to consider in our fundamental understanding of the aging mechanism in skeletal muscle, since myosin is thought to be a potential contributor to dynapenia (age-associated loss of muscle strength independent of atrophy). The primary goal of this study was to determine the effects of age on DRX and SRX states and to examine their sex specificity. We have used quantitative fluorescence microscopy of the fluorescent nucleotide analog 2′/3′-O-(N-methylanthraniloyl) ATP (mantATP) to measure single-nucleotide turnover kinetics of myosin in skinned skel…

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

2010

Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein ( VCP ) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on…

Regulation of ISWI chromatin remodelling activity.

2013

The packaging of the eukaryotic genome into chromatin facilitates the storage of the genetic information within the nucleus, but prevents the access to the underlying DNA sequences. Structural changes in chromatin are mediated by several mechanisms. Among them, ATP-dependent remodelling complexes belonging to ISWI family provides one of the best examples that eukaryotic cells evolved to finely regulate these changes. ISWI-containing complexes use the energy derived from ATP hydrolysis to rearrange nucleosomes on chromatin in order to favour specific nuclear reactions. The combination of regulatory nuclear factors associated with the ATPase subunit as well as its modulation by specific histo…

Genome-wide characterization of chromatin binding and nucleosome spacing activity of the nucleosome remodelling ATPase ISWI.

2010

The evolutionarily conserved ATP-dependent nucleosome remodelling factor ISWI can space nucleosomes affecting a variety of nuclear processes. In Drosophila, loss of ISWI leads to global transcriptional defects and to dramatic alterations in higher-order chromatin structure, especially on the male X chromosome. In order to understand if chromatin condensation and gene expression defects, observed in ISWI mutants, are directly correlated with ISWI nucleosome spacing activity, we conducted a genome-wide survey of ISWI binding and nucleosome positioning in wild-type and ISWI mutant chromatin. Our analysis revealed that ISWI binds both genic and intergenic regions. Remarkably, we found that ISWI…

Nested MWC model describes hydrolysis of GroEL without assuming negative cooperativity in binding

2002

Folding assistance and ATPase activity of GroEL are based on the existence of different conformations. In order to characterise these conformations, published data on steady state ATPase activity in the absence of GroES were reanalysed simultaneously in terms of the Nested MWC model. This model is a hierarchical extension of the symmetry-model of Monod et al. [J. Mol. Biol. 12 (1965) 88]. An unique set of GroEL specific parameters was obtained. This set was supported by comparison of predictions arising from this set of values with experimental data for hydrolysis of ATP in the presence of ADP and ATPgammaS, binding of ATPgammaS and ADP to GroEL in the absence of ATP, and binding of ATP as …