Abstract:
BACKGROUND:Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative fatal disease that can affect the neurons of brain and spinal cord. ALS genetics has identified various genes to be associated with disease pathology. Oxidative stress induced bunina and lewy bodies formation can be regulated through the action of SOD1 protein. Hence, in the present study we aim to analyse the structural and functional annotation of various reported SOD1 variants throughout and their putative correlation with the location of mutation and degree of ALS severity by inferring the structural and functional alterations in different SOD1 variants. METHODS:We have retrieved around 69 SNPs of SOD1 gene from Genecards. Structural annotation of SOD1 variants were performed using SWISS Model, I-Mutant 2.0, Dynamut, ConSurf. Similarly, the functional annotation of same variants were done using SIFT, PHP-SNP, PolyPhen2, PROVEAN and RegulomeDB. Ramachandran plot was also obtained for six synonymous SNPs to compare the amino acid distribution of wild-type SOD1 (WT SOD1) protein. Frequency analysis, Chi square analysis, ANOVA and multiple regression analysis were performed to compare the structural and functional components among various groups. RESULTS AND CONCLUSION:Results showed the mutations in conserved domain of SOD1 protein are more deleterious and significantly distort the tertiary structure of protein by altering Gibb's free energy and entropy. Moreover, significant changes in SIFT, PHP-SNP, PolyPhen2, PROVEAN and RegulomeDB scores were also observed in mutations located in conserved domain of SOD1 protein. Multiple regression results were also suggesting the significant alterations in free energy and entropy for conserved domain mutations which were concordant with structural changes of SOD1 protein. Results of the study are suggesting the biological importance of location of mutation(s) which may derive the different disease phenotypes and must be dealt accordingly to provide precise therapy for ALS patients.
journal_name
BMC Neuroscijournal_title
BMC neuroscienceauthors
Pal S,Tiwari A,Sharma K,Sharma SKdoi
10.1186/s12868-020-00591-3subject
Has Abstractpub_date
2020-10-09 00:00:00pages
42issue
1issn
1471-2202pii
10.1186/s12868-020-00591-3journal_volume
21pub_type
杂志文章相关文献
BMC NEUROSCIENCE文献大全abstract:BACKGROUND:Agmatine is an endogenous polyamine formed by the decarboxylation of L-arginine. We investigated the protective effects of agmatine against hypoxia-induced apoptosis of immortalized rat retinal ganglion cells (RGC-5). RGC-5 cells were cultured in a closed hypoxic chamber (5% O2) with or without agmatine. Cel...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-8-81
更新日期:2007-10-02 00:00:00
abstract:BACKGROUND:Knock-in (KI) mouse models of Alzheimer's disease (AD) that endogenously overproduce Aβ without non-physiological overexpression of amyloid precursor protein (APP) provide important insights into the pathogenic mechanisms of AD. Previously, we reported that AppNL-G-F mice, which harbor three familial AD muta...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/s12868-019-0496-6
更新日期:2019-03-20 00:00:00
abstract::Numerous molecular factors orchestrate the development of the peripheral taste system. The unique anatomy/function of the taste system makes this system ideal for understanding the mechanisms by which these factors function; yet the taste system is underutilized for this role. This review focuses on some of the many f...
journal_title:BMC neuroscience
pub_type: 杂志文章,评审
doi:10.1186/1471-2202-8-S3-S4
更新日期:2007-09-18 00:00:00
abstract:BACKGROUND:Evoked potentials have been proposed to result from phase-locking of electroencephalographic (EEG) activities within specific frequency bands. However, the respective contribution of phasic activity and phase resetting of ongoing EEG oscillation remains largely debated. We here applied the EEGlab procedure i...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-8-75
更新日期:2007-09-18 00:00:00
abstract:BACKGROUND:Multi-sensor technologies such as EEG, MEG, and ECoG result in high-dimensional data sets. Given the high temporal resolution of such techniques, scientific questions very often focus on the time-course of an experimental effect. In many studies, researchers focus on a single sensor or the average over a sub...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-14-122
更新日期:2013-10-14 00:00:00
abstract:BACKGROUND:Empathy refers to the ability to recognise and share emotions with others. Several research groups have recognised observational fear in mice as a useful behavioural model for assessing their ability to empathise. However, in these observation systems, it remains unclear whether the observer mouse truly reco...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/s12868-020-00566-4
更新日期:2020-05-01 00:00:00
abstract:BACKGROUND:Acute subdural hemorrhage (ASDH) is a severe consequence of traumatic brain injury. The occurrence of subdural blood increases the lethality of these patients independent of the amount of blood or elevated intracranial pressure. Thrombin is one of the potential harmful blood components. Possible harmful effe...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/s12868-018-0481-5
更新日期:2018-12-27 00:00:00
abstract:BACKGROUND:Earlier functional imaging studies on visually induced self-motion perception (vection) disclosed a bilateral network of activations within primary and secondary visual cortex areas which was combined with signal decreases, i.e., deactivations, in multisensory vestibular cortex areas. This finding led to the...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-13-81
更新日期:2012-07-16 00:00:00
abstract:BACKGROUND:Human neural stem cells (hNSC) have the potential to provide novel cell-based therapies for neurodegenerative conditions such as multiple sclerosis and Parkinson's disease. In order to realise this goal, protocols need to be developed that allow for large quantities of hNSC to be cultured efficiently. As suc...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-9-71
更新日期:2008-07-23 00:00:00
abstract:BACKGROUND:It has been reported that various types of axonal injury of hypothalamo-neurohypophyseal tract can result in degeneration of the magnocellular neurons (MCNs) in hypothalamus and development of central diabetes insipidus (CDI). However, the mechanism of the degeneration and death of MCNs after hypophysectomy ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-9-54
更新日期:2008-06-25 00:00:00
abstract:BACKGROUND:Stress involves alterations of brain functioning that may precipitate to mood disorders. The neurotrophin Brain Derived Neurotrophic Factor (BDNF) has recently been involved in stress-induced adaptation. BDNF is a key regulator of neuronal plasticity and adaptive processes. Regulation of BDNF is complex and ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-11-4
更新日期:2010-01-14 00:00:00
abstract:BACKGROUND:To date, functional imaging studies of treatment-induced recovery from chronic aphasia only assessed short-term treatment effects after intensive language training. In the present study, we show with functional magnetic resonance imaging (fMRI), that different brain regions may be involved in immediate versu...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-10-118
更新日期:2009-09-22 00:00:00
abstract:BACKGROUND:Low-intensity pulsed ultrasound stimulation (LIPUS) has been proven to be a noninvasive method with high spatial resolution and deep penetration. Previous studies have qualitatively demonstrated that the electromyographic response caused by LIPUS in the mouse motor cortex is affected by the anesthetic state ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/s12868-018-0476-2
更新日期:2018-12-03 00:00:00
abstract:BACKGROUND:Humans demonstrate a number of unique adaptations that allow for the maintenance of blood pressure and brain blood flow when upright. While several physiological systems, including cerebral autoregulation, are involved in this adaptation the unique role the vestibular system plays in helping to maintain brai...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-10-119
更新日期:2009-09-23 00:00:00
abstract:BACKGROUND:We previously described planar areal differences in adult mouse visual, somatosensory, and neocortex that collectively discriminated C57BL/6J and DBA/2J inbred strain identity. Here we use a novel application of established methods of two-dimensional geometric morphometrics to examine shape differences in th...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-7-63
更新日期:2006-09-15 00:00:00
abstract:BACKGROUND:10 Hz electroencephalographic (EEG) alpha rhythms correlate with memory performance. Alpha and memory decline in older people. We wished to test if alpha-like EEG activity contributes to memory formation. Flicker can elicit alpha-like EEG activity. We tested if alpha-frequency flicker enhances memory in olde...
journal_title:BMC neuroscience
pub_type: 临床试验,杂志文章
doi:10.1186/1471-2202-7-21
更新日期:2006-03-05 00:00:00
abstract:BACKGROUND:Excitotoxicity (the toxic overstimulation of neurons by the excitatory transmitter Glutamate) is a central process in widespread neurodegenerative conditions such as brain ischemia and chronic neurological diseases. Many mechanisms have been suggested to mediate excitotoxicity, but their significance across ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/s12868-015-0158-2
更新日期:2015-04-23 00:00:00
abstract:BACKGROUND:Anticipatory planning, the ability to anticipate future perceptual-motor demands of a goal-oriented action sequence, is essential for flexible, purposeful behavior. Once an action goal has been defined, movement details necessary to achieve that goal can be selected. Here, we investigate if anticipatory plan...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-14-91
更新日期:2013-08-28 00:00:00
abstract:BACKGROUND:Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG repeat expansion mutation in the coding region of a novel gene. The mechanism of HD is unknown. Most data suggest that polyglutamine-mediated aggregation associated with expression of mutant huntingtin protein (mhtt) contri...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-10-73
更新日期:2009-07-08 00:00:00
abstract:BACKGROUND:Many studies of cerebral asymmetries in different species lead, on the one hand, to a better understanding of the functions of each cerebral hemisphere and, on the other hand, to develop an evolutionary history of hemispheric laterality. Our animal model is particularly interesting because of its original ev...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-13-9
更新日期:2012-01-12 00:00:00
abstract:BACKGROUND:Following partial injury to the central nervous system, cells beyond the initial injury site undergo secondary degeneration, exacerbating loss of neurons, compact myelin and function. Changes in Ca2+ flux are associated with metabolic and structural changes, but it is not yet clear how flux through specific ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/s12868-017-0380-1
更新日期:2017-08-14 00:00:00
abstract:BACKGROUND:Receptor-interacting protein 3 (RIP3), a member of RIP family proteins, has been shown to participate in programmed necrosis or necroptosis in cell biology studies. Evidence suggests that necroptosis may be a mode of neuronal death in the retina. RESULTS:In the present study we determined the expression of ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-14-16
更新日期:2013-02-02 00:00:00
abstract:BACKGROUND:The function of synaptotagmins (syt) in Ca2+-dependent transmitter release has been attributed primarily to Ca2+-dependent isoforms such as syt I. Recently, syt IV, an inducible Ca2+-independent isoform has been implicated in transmitter release. We postulated that the effects of syt IV on transmitter releas...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-11-104
更新日期:2010-08-24 00:00:00
abstract:BACKGROUND:Neurogenesis continues to occur throughout life but dramatically decreases with increasing age. This decrease is mostly related to a decline in proliferative activity as a result of an impoverishment of the microenvironment of the aged brain, including a reduction in trophic factors and increased inflammatio...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-9-22
更新日期:2008-02-14 00:00:00
abstract:BACKGROUND:The zitter (zi/zi) rat, a loss-of-function mutant of the glycosylated transmembrane protein attractin (atrn), exhibits widespread age-dependent spongiform degeneration, hypomyelination, and abnormal metabolism of reactive oxygen species (ROS) in the brain. To date, the mechanisms underlying these phenotypes ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-9-35
更新日期:2008-04-05 00:00:00
abstract:BACKGROUND:Previous studies showed that anodal transcranial DC stimulation (tDCS) applied to the primary motor cortex of the affected hemisphere (M1affected hemisphere) after subcortical stroke transiently improves performance of complex tasks that mimic activities of daily living (ADL). It is not known if relatively s...
journal_title:BMC neuroscience
pub_type: 临床试验,杂志文章
doi:10.1186/1471-2202-7-73
更新日期:2006-11-03 00:00:00
abstract:BACKGROUND:Even though more than 600 stroke treatments have been shown effective in preclinical studies, clinically proven treatment alternatives for cerebral infarction remain scarce. Amongst the reasons for the discrepancy may be methodological shortcomings, such as high mortality and outcome variability, in the prec...
journal_title:BMC neuroscience
pub_type: 杂志文章,meta分析
doi:10.1186/1471-2202-14-41
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:Amyloid precursor protein (APP) is enzymatically cleaved by gamma-secretase to form two peptide products, either Abeta40 or the more neurotoxic Abeta42. The Abeta42/40 ratio is increased in many cases of familial Alzheimer's disease (FAD). The transmembrane domain (TM) of APP contains the known dimerization ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-9-17
更新日期:2008-01-30 00:00:00
abstract:BACKGROUND:Numerous electrophysiological, ultrastructural, and immunocytochemical studies on rodent taste buds have been carried out on rat taste buds. In recent years, however, the mouse has become the species of choice for molecular and other studies on sensory transduction in taste buds. Do rat and mouse taste buds ...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/1471-2202-8-5
更新日期:2007-01-05 00:00:00
abstract:BACKGROUND:Astaxanthin (ATX) is a carotenoid pigment with pleiotropic pharmacological properties that is seen as a possible drug for treating cerebral ischemic injury and subarachnoid hemorrhage. Na+-K+-2Cl- co-transporter-1 (NKCC1), an intrinsic membrane protein expressed by many cell types, is activated by various in...
journal_title:BMC neuroscience
pub_type: 杂志文章
doi:10.1186/s12868-017-0358-z
更新日期:2017-05-10 00:00:00