Готові списки джерел за темами / Stabilising mutations

Добірка наукової літератури з теми "Stabilising mutations"

Автор: Grafiati

Опубліковано: 6 вересня 2023

Оформте джерело за APA, MLA, Chicago, Harvard та іншими стилями

Оберіть тип джерела:

Зміст

Статті в журналах
Дисертації

Ознайомтеся зі списками актуальних статей, книг, дисертацій, тез та інших наукових джерел на тему "Stabilising mutations".

Біля кожної праці в переліку літератури доступна кнопка «Додати до бібліографії». Скористайтеся нею – і ми автоматично оформимо бібліографічне посилання на обрану працю в потрібному вам стилі цитування: APA, MLA, «Гарвард», «Чикаго», «Ванкувер» тощо.

Також ви можете завантажити повний текст наукової публікації у форматі «.pdf» та прочитати онлайн анотацію до роботи, якщо відповідні параметри наявні в метаданих.

Статті в журналах з теми "Stabilising mutations"

Cecchetti, Cristina, Nicola J. Scull, Thotegowdanapalya C. Mohan, Yilmaz Alguel, Alexandra M. C. Jones, Alexander D. Cameron, and Bernadette Byrne. "Transfer of stabilising mutations between different secondary active transporter families." FEBS Open Bio 11, no. 6 (May 8, 2021): 1685–94. http://dx.doi.org/10.1002/2211-5463.13168.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Dabravolski, Siarhei A., and Yury K. Kavalionak. "The Worldwide Search for the New Mutations in the RNA-Directed RNA Polymerase Domain of SARS-CoV-2." Macedonian Veterinary Review 44, no. 1 (March 1, 2021): 87–94. http://dx.doi.org/10.2478/macvetrev-2020-0036.

Повний текст джерела

Анотація:

Abstract Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is an RNA virus, responsible for the current pandemic outbreak. In total, 200 genomes of the SARS-CoV-2 strains from four host organisms have been analyzed. To investigate the presence of the new mutations in the RNA-directed RNA Polymerase (RdRp) of SARS-CoV-2, we analyzed sequences isolated from different hosts, with particular emphasis on human isolates. We performed a search for the new mutations of the RdRp proteins and study how those newly identified mutations could influence RdRp protein stability. Our results revealed 25 mutations in Rhinolophus sinicus, 1 in Mustela lutreola, 6 in Homo sapiens, and none in Mus musculus RdRp proteins of the SARS-CoV-2 isolates. We found that P323L is the most common stabilising radical mutation in human isolates. Also, we described several unique mutations, specific for studied hosts. Therefore, our data suggest that new and emerging variants of the SARS-CoV-2 RdRp have to be considered for the development of effective therapeutic agents and treatments.

Стилі APA, Harvard, Vancouver, ISO та ін.

Lillebostad, Peder A. G., Arne Raasakka, Silje J. Hjellbrekke, Sudarshan Patil, Trude Røstbø, Hanne Hollås, Siri A. Sakya, Peter D. Szigetvari, Anni Vedeler, and Petri Kursula. "Structure of the ALS Mutation Target Annexin A11 Reveals a Stabilising N-Terminal Segment." Biomolecules 10, no. 4 (April 24, 2020): 660. http://dx.doi.org/10.3390/biom10040660.

Повний текст джерела

Анотація:

The functions of the annexin family of proteins involve binding to Ca2+, lipid membranes, other proteins, and RNA, and the annexins share a common folded core structure at the C terminus. Annexin A11 (AnxA11) has a long N-terminal region, which is predicted to be disordered, binds RNA, and forms membraneless organelles involved in neuronal transport. Mutations in AnxA11 have been linked to amyotrophic lateral sclerosis (ALS). We studied the structure and stability of AnxA11 and identified a short stabilising segment in the N-terminal end of the folded core, which links domains I and IV. The crystal structure of the AnxA11 core highlights main-chain hydrogen bonding interactions formed through this bridging segment, which are likely conserved in most annexins. The structure was also used to study the currently known ALS mutations in AnxA11. Three of these mutations correspond to buried Arg residues highly conserved in the annexin family, indicating central roles in annexin folding. The structural data provide starting points for detailed structure–function studies of both full-length AnxA11 and the disease variants being identified in ALS.

Стилі APA, Harvard, Vancouver, ISO та ін.

Kielty, C. M., T. Rantamaki, A. H. Child, C. A. Shuttleworth, and L. Peltonen. "Cysteine-to-arginine point mutation in a ‘hybrid’ eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly." Journal of Cell Science 108, no. 3 (March 1, 1995): 1317–23. http://dx.doi.org/10.1242/jcs.108.3.1317.

Повний текст джерела

Анотація:

Mutations in the FBN1 gene encoding the microfibrillar glycoprotein fibrillin cause Marfan syndrome, a relatively common autosomal dominant connective tissue disease. Causative FBN1 mutations appear to be dispersed throughout the coding frame, and to date no predictable genotype: phenotype correlations have emerged. We have identified a point mutation within an eight-cysteine ‘hybrid’ motif of the fibrillin polypeptide which results in the substitution of an arginine for a cysteine, in a patient severely affected in the cardiovascular, skeletal and ocular systems. We have utilised cell cultures from various tissues of this patient to investigate the effects of this mutation on fibrillin expression and deposition, and the consequences in terms of microfibril assembly and organisation. We have established that there is no difference in the expression of normal and mutant alleles, and fibrillin synthesis, secretion and deposition are also normal. However, the rate of fibrillin aggregation is reduced and microfibrillar assemblies are both remarkably scarce and morphologically abnormal. These data clearly demonstrate that the mutated allele interferes with normal assembly, and strongly implicate this particular region of the fibrillin-1 molecule in stabilising microfibrillar assemblies.

Стилі APA, Harvard, Vancouver, ISO та ін.

Willows, Jamie, Maryam Al Badi, Chloe Richardson, Noel Edwards, Sarah Rice, and John A. Sayer. "Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report." F1000Research 8 (May 15, 2019): 666. http://dx.doi.org/10.12688/f1000research.19006.1.

Повний текст джерела

Анотація:

Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia. We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features. We performed whole exome sequencing in the affected child and segregation analysis within the family, which revealed a novel homozygous missense mutation in TRPM6, which was confirmed as a heterozygous allele in both parents and two younger siblings who had transient hypomagnesaemia. Using in silico modelling, we provide evidence that the missense variant p.(K1098E) in TRPM6 is pathogenic, as it disrupts stabilising TRP domain interactions. Management of familial hypomagnesaemia relies on prompt recognition, early magnesium replacement and lifelong monitoring.

Стилі APA, Harvard, Vancouver, ISO та ін.

Willows, Jamie, Maryam Al Badi, Chloe Richardson, Aisha Al Sinani, Noel Edwards, Sarah Rice, and John A. Sayer. "Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia." F1000Research 8 (December 5, 2019): 666. http://dx.doi.org/10.12688/f1000research.19006.2.

Повний текст джерела

Анотація:

Стилі APA, Harvard, Vancouver, ISO та ін.

Kachan, Alexandr, та Anatoliy Evtushenkov. "Thermostable mutant variants of Bacillus sp. 406 α-amylase generated by site-directed mutagenesis". Open Life Sciences 8, № 4 (1 квітня 2013): 346–56. http://dx.doi.org/10.2478/s11535-013-0142-0.

Повний текст джерела

Анотація:

AbstractSeveral mutations are known to increase the thermostability of α-amylase of B. licheniformis and other α-amylases. Site-directed mutagenesis was used to introduce similar mutations into the sequence of the α-amylase gene from mesophilic Bacillus sp. 406. The influence of the mutations on thermostability of the enzyme was studied. It was shown that the Gly211Val and Asn192Phe substitutions increased the half-inactivation temperature (Tm) of the enzyme from 51.94±0.45 to 55.51±0.59 and 58.84±0.68°C respectively, in comparison to the wild-type enzyme. The deletion of Arg178-Gly179 (dRG) resulted in an increase of Tm of the α-amylase to 71.7±1.73°C. The stabilising effect of mutations was additive. When combined they increase the Tm of the wild-type amylase by more than 26°C. Thermostability rates of the triple mutant are close to the values which are typical for industrial heat-stable α-amylases, and its ability to degrade starch at 75°C was considerably increased. The present research confirmed that the Gly211Val, Asn192Phe and dRG mutations could play a significant role in thermostabilization of both mesophilic and thermophilic α-amylases.

Стилі APA, Harvard, Vancouver, ISO та ін.

Larkin, Sarah, and Niki Karavitaki. "Recent advances in molecular pathology of craniopharyngioma." F1000Research 6 (July 24, 2017): 1202. http://dx.doi.org/10.12688/f1000research.11549.1.

Повний текст джерела

Анотація:

Craniopharyngiomas are rare epithelial tumours arising along the path of the craniopharyngeal duct. Two major histological subtypes have been recognised, the papillary and the adamantinomatous. Craniopharyngiomas remain challenging tumours to manage and are associated with significant morbidities and mortality. Recent advances in the molecular pathology of these neoplasms have identified BRAF mutations in the papillary variant, offering promising options for targeted pharmacological treatment. The involvement of β-catenin and the Wnt pathway in the tumorigenesis of the adamantinomatous subtype has been previously established with the identification of stabilising mutations in exon 3 of CTNNB1. Further understanding of the pathogenesis of this subtype has been facilitated with the use of mouse models and xenograft experiments. It has been proposed that the clusters of cells with upregulated Wnt/β-catenin signalling induce tumour formation in a paracrine manner; the complex interactions occurring between different cell populations need to be further clarified for further expansion of this hypothesis. This review outlines recent key advances in our understanding of the molecular pathology of craniopharyngiomas and discusses some of the challenges that need to be overcome for the development of targeted therapies that will hopefully improve the management and the outcomes of these patients.

Стилі APA, Harvard, Vancouver, ISO та ін.

Monteiro, Fátima Liliana, Cecilia Williams, and Luisa A. Helguero. "A Systematic Review to Define the Multi-Faceted Role of Lysine Methyltransferase SETD7 in Cancer." Cancers 14, no. 6 (March 10, 2022): 1414. http://dx.doi.org/10.3390/cancers14061414.

Повний текст джерела

Анотація:

Histone–lysine N-methyltransferase SETD7 regulates a variety of cancer-related processes, in a tissue-type and signalling context-dependent manner. To date, there is no consensus regarding SETD7´s biological functions, or potential for cancer diagnostics and therapeutics. In this work, we summarised the literature on SETD7 expression and function in cancer, to identify the contexts where SETD7 expression and targeting can lead to improvements in cancer diagnosis and therapy. The most studied cancers were found to be lung and osteosarcoma followed by colorectal and breast cancers. SETD7 mRNA and/or protein expression in human cancer tissue was evaluated using public databases and/or in-house cohorts, but its prognostic significance remains inconclusive. The most studied cancer-related processes regulated by SETD7 were cell proliferation, apoptosis, epithelial-mesenchymal transition, migration and invasion with special relevance to the pRb/E2F-1 pathway. SETD7 consistently prevented epithelial to mesenchymal transition in different cancer types, and inhibition of its function appears to be associated with improved response to DNA-damaging agents in most of the analysed studies. Stabilising mutations in SETD7 target proteins prevent their methylation or promote other competing post-translational modifications that can override the SETD7 effect. This indicates that a clear discrimination of these mutations and competing signalling pathways must be considered in future functional studies.

Стилі APA, Harvard, Vancouver, ISO та ін.

Szczepaniak, Joanna, Cara Press, and Colin Kleanthous. "The multifarious roles of Tol-Pal in Gram-negative bacteria." FEMS Microbiology Reviews 44, no. 4 (May 30, 2020): 490–506. http://dx.doi.org/10.1093/femsre/fuaa018.

Повний текст джерела

Анотація:

ABSTRACT In the 1960s several groups reported the isolation and preliminary genetic mapping of Escherichia coli strains tolerant towards the action of colicins. These pioneering studies kick-started two new fields in bacteriology; one centred on how bacteriocins like colicins exploit the Tol (or more commonly Tol-Pal) system to kill bacteria, the other on the physiological role of this cell envelope-spanning assembly. The following half century has seen significant advances in the first of these fields whereas the second has remained elusive, until recently. Here, we review work that begins to shed light on Tol-Pal function in Gram-negative bacteria. What emerges from these studies is that Tol-Pal is an energised system with fundamental, interlinked roles in cell division – coordinating the re-structuring of peptidoglycan at division sites and stabilising the connection between the outer membrane and underlying cell wall. This latter role is achieved by Tol-Pal exploiting the proton motive force to catalyse the accumulation of the outer membrane peptidoglycan associated lipoprotein Pal at division sites while simultaneously mobilising Pal molecules from around the cell. These studies begin to explain the diverse phenotypic outcomes of tol-pal mutations, point to other cell envelope roles Tol-Pal may have and raise many new questions.

Стилі APA, Harvard, Vancouver, ISO та ін.

Більше джерел

Дисертації з теми "Stabilising mutations"

Bhowmick, Jayantika. "CcdB : Stability, folding and application to design novel antibacterials." Thesis, 2020. https://etd.iisc.ac.in/handle/2005/5134.

Повний текст джерела

Анотація:

The primary amino acid sequence typically dictates the ultimate conformation of the protein. Mutations in the sequence demonstrate neutral, positive or negative effects on the structure-function relationship of the protein. Destabilising mutations often reduce the soluble levels of the protein in vivo, leading to complete or partial loss of its function. Global suppressors are diverse compensatory mutations that can alleviate the detrimental effects of multiple destabilised, inactive mutants, despite being physically distant from the site of the original inactive mutations. The molecular mechanisms responsible for suppression are still unknown, despite the characterisation of suppressors in several proteins since the late 1980s. Another modulator of a protein’s structure is the pH of the solution. It has long been known that proteins form molten globules at acidic pH conditions, which are compact denatured states with fluctuating tertiary structures. CcdB (Controller of Cell Division or Death B), a 101-residue homodimeric toxin which is a part of the CcdA:CcdB toxin:antitoxin module and poisons intracellular Gyrase, has been utilised as the model protein of choice in the course of the studies. Chapter 1 presents the importance of global suppressors, gives an overview of the role of pH on the protein’s structure and discusses various Gyrase inhibitors and outlines how the CcdB:Gyrase interaction can be utilised to design antibacterial peptides based on the toxin’s sequence. Chapter 2 provides a detailed thermodynamic and kinetic investigation of a global suppressor in CcdB. The studies show that the suppressor restores the stability and function of inactive mutants by marginally enhancing their apparent thermodynamic stabilities and lowering their unfolding rates. Chapter 3 shows the broad-spectrum antibacterial action of a novel CcdB-derived peptide on E.coli and pathogenic strains of S.aureus, S.Typhimurium, as well as a multi-drug resistant clinical isolate of A.baumannii. Chapter 4 reports a preliminary investigation of the low pH-induced molten globule-like state of CcdB using NMR spectroscopy.
MHRD, India

Стилі APA, Harvard, Vancouver, ISO та ін.

Ми пропонуємо знижки на всі преміум-плани для авторів, чиї праці увійшли до тематичних добірок літератури. Зв'яжіться з нами, щоб отримати унікальний промокод!