Abstract:
:The motor neuron degenerative disease spinal muscular atrophy (SMA) remains one of the most frequently inherited causes of infant mortality. Afflicted patients loose the survival motor neuron 1 (SMN1) gene but retain one or more copies of SMN2, a homolog that is incorrectly spliced. Primary treatment strategies for SMA aim at boosting SMN protein levels, which are insufficient in patients. SMN is known to partner with a set of diverse proteins collectively known as GEMINs to form a macromolecular complex. The SMN-GEMINs complex is indispensible for chaperoning the assembly of small nuclear ribonucleoproteins (snRNPs), which are key for pre-mRNA splicing. Pharmaceutics that alleviate the neuromuscular phenotype by restoring the fundamental function of SMN without augmenting its levels are also crucial in the development of an effective treatment. Their use as an adjunct therapy is predicted to enhance benefit to patients. Inspired by the surprising discovery revealing a premier role for GEMINs in snRNP biogenesis together with in vivo studies documenting their requirement for the correct function of the motor system, this review speculates on whether GEMINs constitute valid targets for SMA therapeutic development.
journal_name
Front Neuroscijournal_title
Frontiers in neuroscienceauthors
Borg R,Cauchi RJdoi
10.3389/fnins.2014.00325subject
Has Abstractpub_date
2014-10-15 00:00:00pages
325eissn
1662-4548issn
1662-453Xjournal_volume
8pub_type
杂志文章,评审abstract:INTRODUCTION:Impairments in walking speed and capacity are common problems after stroke which may benefit from treadmill training. However, standard treadmills, are unable to adapt to the slower walking speeds of stroke survivors and are unable to automate training progression. This study tests a Variable Automated Spe...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2015.00231
更新日期:2015-07-10 00:00:00
abstract::Blood-oxygen-level dependent (BOLD) signals are widely used in functional magnetic resonance imaging (fMRI) as a proxy measure of brain activation. However, because these signals are blood-related, they are also influenced by other physiological processes. This is especially true in resting state fMRI, during which no...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2016.00313
更新日期:2016-06-30 00:00:00
abstract::Twenty years ago, the first report on the sound-induced double flash illusion, a visual illusion induced by sound, was published. In this paradigm, participants are presented with different numbers of auditory and visual stimuli. In case of an incongruent number of auditory and visual stimuli, the influence of auditor...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2020.00298
更新日期:2020-04-03 00:00:00
abstract::Whereas major insights into the neuronal basis of adaptive behavior have been gained from the study of automatic behaviors, including reflexive and rhythmic motor acts, the neural substrates for goal-directed behaviors in which decision-making about action selection and initiation are crucial, remain poorly understood...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2012.00113
更新日期:2012-07-26 00:00:00
abstract::Spasticity is a common comorbidity associated with spinal cord injury (SCI). Robotic exoskeletons have recently emerged to facilitate legged mobility in people with motor complete SCI. Involuntary muscle activity attributed to spasticity, however, can prevent such individuals from using an exoskeleton. Specifically, a...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00374
更新日期:2018-06-01 00:00:00
abstract::Schizophrenia is a severe neuropsychiatric disorder with persistence of symptoms throughout adult life in most of the affected patients. This unfavorable course is associated with multiple episodes and residual symptoms, mainly negative symptoms and cognitive deficits. The neural diathesis-stress model proposes that p...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2019.00274
更新日期:2019-03-21 00:00:00
abstract::Chronic exposure to alcohol produces adaptations within the basolateral amygdala (BLA) that are associated with the development of anxiety-like behaviors during withdrawal. In part, these adaptations are mediated by plasticity in glutamatergic synapses occurring through an AMPA receptor mediated form of post-synaptic ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2017.00424
更新日期:2017-07-21 00:00:00
abstract::While the adult human brain has approximately 8.8 × 10(10) neurons, this number is dwarfed by its 1 × 10(15) synapses. From the point of view of neuromorphic engineering and neural simulation in general this makes the simulation of these synapses a particularly complex problem. SpiNNaker is a digital, neuromorphic arc...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2016.00420
更新日期:2016-09-14 00:00:00
abstract::It is undisputed that presenting a rhythmic stimulus leads to a measurable brain response that follows the rhythmic structure of this stimulus. What is still debated, however, is the question whether this brain response exclusively reflects a regular repetition of evoked responses, or whether it also includes entraine...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2018.00095
更新日期:2018-03-07 00:00:00
abstract::Tau is an essential protein that physiologically promotes the assembly and stabilization of microtubules, and participates in neuronal development, axonal transport, and neuronal polarity. However, in a number of neurodegenerative diseases, including Alzheimer's disease (AD), tau undergoes pathological modifications i...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2018.00441
更新日期:2018-07-05 00:00:00
abstract::Hormonal contraceptives are on the market for more than 50 years and used by 100 million women worldwide. However, while endogenous steroids have been convincingly associated with change in brain structure, function and cognitive performance, the effects of synthetic steroids contained in hormonal contraceptives on br...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2014.00256
更新日期:2014-08-21 00:00:00
abstract::Diabetic neuropathy (DPN) is one of the most severe and yet most poorly understood complications of diabetes mellitus. In vivo imaging of dorsal root ganglia (DRG), a key structure for the understanding of DPN, has been restricted to animal studies. These have shown a correlation of decreased DRG volume with neuropath...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.570744
更新日期:2020-09-25 00:00:00
abstract::Pitch is an essential category for musical sensations. Models of pitch perception are vividly discussed up to date. Most of them rely on definitions of mathematical methods in the spectral or temporal domain. Our proposed pitch perception model is composed of an active auditory model extended by octopus cells. The act...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00660
更新日期:2018-09-25 00:00:00
abstract::Luqin is a neuropeptide that was discovered and named on account of its expression in left upper quadrant cells of the abdominal ganglion in the mollusc Aplysia californica. Subsequently, luqin-type peptides were identified as cardio-excitatory neuropeptides in other molluscs and a cognate receptor was discovered in t...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2020.00130
更新日期:2020-02-18 00:00:00
abstract::Recent neuroimaging studies in primates aim to define the functional properties of auditory cortical areas, especially areas beyond A1, in order to further our understanding of the auditory cortical organization. Precise mapping of functional magnetic resonance imaging (fMRI) results and interpretation of their locali...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2014.00198
更新日期:2014-07-21 00:00:00
abstract::The mechanisms that control the frequency and propagation velocity of colonic migrating motor complexes (CMMCs) in mammals are poorly understood. Previous in vitro studies on whole mouse colon have shown that CMMCs occur frequently (~every 1-3 min) when the colon is devoid of all fecal content. Consequently, these stu...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2014.00096
更新日期:2014-05-08 00:00:00
abstract::Traumatic brain injury (TBI) is a major public health concern that affects 69 million individuals each year worldwide. Neuropsychologists report that up to 40% of individuals undergoing evaluations for TBI may be malingering neurocognitive deficits for a compensatory reward. The memory recognition test of malingering ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00988
更新日期:2019-09-25 00:00:00
abstract::Obesity is known to induce leptin and insulin resistance. Leptin is a peptide hormone synthesized in adipose tissue that mainly regulates food intake. It has been shown that insulin stimulates the production of leptin when adipocytes are exposed to glucose to encourage satiety; while leptin, via a negative feedback, d...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.00508
更新日期:2019-05-22 00:00:00
abstract::The hypothalamo-pituitary system developed in early vertebrates. Prolactin is an ancient vertebrate hormone released from the pituitary that exerts particularly diverse functions. The purpose of the review is to take a comparative approach in the description of prolactin, its secretion from pituitary lactotrophs, and ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnins.2020.00621
更新日期:2020-06-16 00:00:00
abstract::High angular resolution diffusion imaging (HARDI)-based tractography has been increasingly used in longitudinal studies on white matter macro- and micro-structural changes in the language network during language acquisition and in language impairments. However, test-retest reliability measurements are essential to asc...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.01055
更新日期:2019-01-14 00:00:00
abstract::While convolutional neural networks (CNNs) continue to renew state-of-the-art performance across many fields of machine learning, their hardware implementations tend to be very costly and inflexible. Neuromorphic hardware, on the other hand, targets higher efficiency but their inference accuracy lags far behind that o...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.543472
更新日期:2020-12-23 00:00:00
abstract::Cognitive control of emotions depends on intermodular long-distance communications. However, negative connections between connector hubs are removed by traditional hard-thresholding approach in graph-theoretical research. Using soft-thresholding approach to reserve negative links, we explore time-varying features of c...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2019.01069
更新日期:2019-10-25 00:00:00
abstract::Induction of lordosis as typical female sexual behavior in rodents is dependent on a mount stimulus from males and blood levels of estrogen. Periaqueductal gray (PAG) efferent neurons have been suggested to be important for lordosis behavior; however, the neurochemical basis remains to be understood. In this study, we...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2014.00421
更新日期:2014-12-18 00:00:00
abstract::The classification of electroencephalogram (EEG) signals is of significant importance in brain-computer interface (BCI) systems. Aiming to achieve intelligent classification of EEG types with high accuracy, a classification methodology using sparse representation (SR) and fast compression residual convolutional neural...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.00808
更新日期:2020-09-30 00:00:00
abstract::Gambling is a widespread recreational activity and requires pitting the values of potential wins and losses against their probability of occurrence. Neuropsychological research showed that betting behavior on laboratory gambling tasks is highly sensitive to focal lesions to the ventromedial prefrontal cortex (vmPFC) a...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2012.00046
更新日期:2012-04-18 00:00:00
abstract:Background:Postherpetic neuralgia (PHN) is a form of long-lasting neuropathic pain that can severely affect patients' quality of life. Pulsed radiofrequency (PRF) has been proven to be effective in treating PHN, but the optimal radiofrequency parameters are still not well defined. This retrospective study aimed to comp...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2020.579486
更新日期:2020-12-18 00:00:00
abstract::Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique to change cortical excitability. Its effects are shown for cognitive processing, and behavior in the motor and perceptual domains. However, evidence of tDCS effects in the perceptual domain particularly for auditory processing...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00880
更新日期:2018-11-27 00:00:00
abstract::A novel low cost interconnected architecture (LCIA) is proposed in this paper, which is an efficient solution for the neuron interconnections for the hardware spiking neural networks (SNNs). It is based on an all-to-all connection that takes each paired input and output nodes of multi-layer SNNs as the source and dest...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2018.00857
更新日期:2018-11-21 00:00:00
abstract:BACKGROUND AND AIMS:Malfunctions of enteric neurons are believed to play an important role in the pathophysiology of irritable bowel syndrome (IBS). Our aim was to investigate whether neuronal activity in biopsies from IBS patients is altered in comparison to healthy controls (HC). METHODS:Activity of human submucous ...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2015.00465
更新日期:2015-12-16 00:00:00
abstract::Many of the precise biological mechanisms of synaptic plasticity remain elusive, but simulations of neural networks have greatly enhanced our understanding of how specific global functions arise from the massively parallel computation of neurons and local Hebbian or spike-timing dependent plasticity rules. For simulat...
journal_title:Frontiers in neuroscience
pub_type: 杂志文章
doi:10.3389/fnins.2014.00429
更新日期:2015-01-20 00:00:00