当前位置： SCI文献检索 > NEUROSCIENCE期刊下所有文献 > Rare Diseases of Neurodevelopment: Maintain the Mystery or Use a Dazzling Tool for Investigation? The Case of Rett Syndrome.

Rare Diseases of Neurodevelopment: Maintain the Mystery or Use a Dazzling Tool for Investigation? The Case of Rett Syndrome.

Abstract：

:The investigation on neurotransmission function during normal and pathologic development is a pivotal component needed to understand the basic mechanisms underlying neurodevelopmental pathologies. To study these diseases, many animal models have been generated which allowed to face the limited availability of human tissues and, as a consequence, most of the electrophysiology has been performed on these models of diseases. On the other hand, the technique of membrane microtransplantation in Xenopus oocytes allows the study of human functional neurotransmitter receptors thanks to the use of tissues from autopsies or surgeries, even in quantities that would not permit other kinds of functional studies. In this short article, we intend to underline how this technique is well-fit for the study of rare diseases by characterizing the electrophysiological properties of GABAA and AMPA receptors in Rett syndrome. For our purposes, we used both tissues from Rett syndrome patients and Mecp2-null mice, a well validated murine model of the same disease, in order to strengthen the solidity of our results through the comparison of the two. Our findings retrace previous results and, in the light of this, further argue in favor of Prof. Miledi's technique of membrane microtransplantation that proves itself a very useful tool of investigation in the field of neurophysiology. This article is part of a Special Issue entitled: Honoring Ricardo Miledi - outstanding neuroscientist of XX-XXI centuries.

journal_name

Neuroscience

journal_title

Neuroscience

authors

Ruffolo G,Cifelli P,Miranda-Lourenço C,De Felice E,Limatola C,Sebastião AM,Diógenes MJ,Aronica E,Palma E

doi

10.1016/j.neuroscience.2019.06.015

subject

Has Abstract

pub_date

2020-07-15 00:00:00

pages

146-152

eissn

0306-4522

issn

1873-7544

pii

S0306-4522(19)30421-X

journal_volume

439

pub_type

杂志文章

相关文献

NEUROSCIENCE文献大全
  • Zic1 levels regulate mossy fiber neuron position and axon laterality choice in the ventral brain stem.

    abstract：:Pontine gray neurons of the brain stem are a major source of mossy fiber (MF) afferents to granule cells of the cerebellum. Achieving this connectivity involves an early regionalization of pontine gray neuron cell bodies within the brainstem pontine nuclei, as well as establishing the proper ratio of crossed versus un...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2009.02.082

    authors： Dipietrantonio HJ,Dymecki SM

    更新日期：2009-09-01 00:00:00

  • The role of transcription factors cyclic-AMP responsive element modulator (CREM) and inducible cyclic-AMP early repressor (ICER) in epileptogenesis.

    abstract：:Alterations in the brain that contribute to the development of epilepsy, also called epileptogenesis, are not well understood, which makes it difficult to develop strategies for preventing epilepsy. Here we have studied the role of the CRE binding transcription factors, cyclic-AMP responsive element modulator (CREM) a...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2007.10.064

    authors： Porter BE,Lund IV,Varodayan FP,Wallace RW,Blendy JA

    更新日期：2008-03-27 00:00:00

  • Trophic interactions between the cochleovestibular ganglion of the chick embryo and its synaptic targets in culture.

    abstract：:The effect of the availability of synaptic targets on neuronal survival was tested by explanting the cochleovestibular ganglion from embryonic day 3-1/2 chick embryos and maintaining it in the presence or absence of appropriate synaptic target tissues for 14 days in culture. The targets were the inner ear, peripherall...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(85)90053-3

    authors： Ard MD,Morest DK,Hauger SH

    更新日期：1985-09-01 00:00:00

  • Galanin differentially regulates acetylcholine release in ventral and dorsal hippocampus: a microdialysis study in awake rat.

    abstract：:The purpose of the present study was to investigate, by use of in vivo microdialysis technique, the regulatory role of galanin on acetylcholine (ACh) release in the CA1, CA3, and dentate gyrus (DG) subregions of rat dorsal and ventral hippocampus. In the ventral hippocampus, local infusions of galanin (1.5 nmol) into ...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2011.09.035

    authors： Yoshitake T,Yoshitake S,Savage S,Elvander-Tottie E,Ogren SO,Kehr J

    更新日期：2011-12-01 00:00:00

  • The localization of nitric oxide synthase in the rat eye and related cranial ganglia.

    abstract：:Nitric oxide synthase is the biosynthetic enzyme for the free radical neurotransmitter nitric oxide. Using an affinity-purified antiserum, nitric oxide synthase was found to be localized to peripheral ocular nerve fibers, related cranial ganglia, and the retina of the rat. In the eye, nitric oxide synthase-like immuno...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(93)90393-t

    authors： Yamamoto R,Bredt DS,Snyder SH,Stone RA

    更新日期：1993-05-01 00:00:00

  • Detection of putative dopamine receptors in neurites outgrowing from locust central nervous system explants using anti-idiotypic dopamine antibodies.

    abstract：:Organotypic cultures established from the third thoracic ganglion of locust embryo have been used to investigate dopamine receptors. In this in vitro system, neurites emerge directly from the explants and form a dense network around the explants, presenting cell surface freely exposed for experimental labelling. Polyc...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(94)90088-4

    authors： Vanhems E,Delbos M,Geffard M,Viellemaringe J

    更新日期：1994-02-01 00:00:00

  • Stimulation of cortical acetylcholine release by orexin A.

    abstract：:The basal forebrain cholinergic system is a critical component of the neurobiological substrates underlying attentional function. Orexin neurons are important for arousal and maintenance of wakefulness and are found in the area of the hypothalamus previously shown to project to the basal forebrain. We used dual-probe ...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2004.09.050

    authors： Fadel J,Pasumarthi R,Reznikov LR

    更新日期：2005-01-01 00:00:00

  • Cortical inhibition in Parkinson's disease: new insights from early, untreated patients.

    abstract：:Transcranial magnetic stimulation (TMS) has opened important perspectives on the pathophysiological bases and potential targets of treatment strategies for idiopathic Parkinson's disease (IPD). Studies have been mainly focusing on motor cortical inhibitory phenomena. However, differences in patients and methods caused...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2007.08.033

    authors： Cantello R,Tarletti R,Varrasi C,Cecchin M,Monaco F

    更新日期：2007-11-30 00:00:00

  • Selective inhibition of cyclooxygenase-2 exacerbates methamphetamine-induced dopamine depletion in the striatum in rats.

    abstract：:Neuroinflammatory processes associated with induction of cyclooxygenase (COX) have been implicated in the deleterious events resulting in neurodegeneration. The present study was designed to investigate the impact of acute methamphetamine (MA) administration on COX expression and prostaglandin E2 (PGE(2)) production, ...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2007.09.059

    authors： Zhang X,Dong F,Mayer GE,Bruch DC,Ren J,Culver B

    更新日期：2007-12-19 00:00:00

  • Ontogeny of substance P-containing neuron system of the rat: immunohistochemical analysis--I. Forebrain and upper brain stem.

    abstract：:The ontogeny of substance P-containing neuron system in the forebrain and upper brain stem of the rat was investigated by means of the indirect immunofluorescence technique. Substance P-positive structures first appeared in the primordium of the epithalamus and the area which surrounded the commissura posterior of the...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(82)90165-8

    authors： Inagaki S,Sakanaka M,Shiosaka S,Senba E,Takatsuki K,Takagi H,Kawai Y,Minagawa H,Tohyama M

    更新日期：1982-01-01 00:00:00

  • Uptake and axonal transport of horseradish peroxidase isoenzymes by different neuronal types.

    abstract：:The uptake and transport of basic and acidic horseradish peroxidase isoenzymes was compared in the neuromuscular, visual and olfactory systems of Xenopus larvae and postmetamorphic frogs. The concentration (w/v) of the two preparations was corrected to compensate for their difference in enzymatic activity (unit/w), wh...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(87)92988-5

    authors： Key B,Giorgi PP

    更新日期：1987-09-01 00:00:00

  • Nuclear factor kappaB activation by muscarinic receptors in astroglial cells: effect of ethanol.

    abstract：:Activation of muscarinic receptors leads to proliferation of astroglial cells and this effect is inhibited by ethanol. Among the intracellular pathways involved in the mitogenic action of muscarinic agonists, activation of the atypical protein kinase C zeta (PKC zeta) appears to be of most importance, and is also affe...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/s0306-4522(03)00401-9

    authors： Guizzetti M,Bordi F,Dieguez-Acuña FJ,Vitalone A,Madia F,Woods JS,Costa LG

    更新日期：2003-01-01 00:00:00

  • Aging in the cerebellum and hippocampus and associated behaviors over the adult life span of CB6F1 mice.

    abstract：:In the present study we examined the effects of normal aging in the hippocampus and cerebellum, as well as behaviors associated with these substrates. A total of 67 CB6F1 hybrid mice were tested at one of five ages (4, 8, 12, 18 or 25 months) on the context pre-exposure facilitation effect (CPFE) modification of fear ...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2013.06.002

    authors： Kennard JA,Brown KL,Woodruff-Pak DS

    更新日期：2013-09-05 00:00:00

  • Attention modulates specific motor cortical circuits recruited by transcranial magnetic stimulation.

    abstract：:Skilled performance and acquisition is dependent upon afferent input to motor cortex. The present study used short-latency afferent inhibition (SAI) to probe how manipulation of sensory afference by attention affects different circuits projecting to pyramidal tract neurons in motor cortex. SAI was assessed in the firs...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2017.07.028

    authors： Mirdamadi JL,Suzuki LY,Meehan SK

    更新日期：2017-09-17 00:00:00

  • Neural activation in arousal and reward areas of the brain in day-active and night-active grass rats.

    abstract：:In the diurnal unstriped Nile grass rat (Arvicanthis niloticus) access to a running wheel can trigger a shift in active phase preference, with some individuals becoming night-active (NA), while others continue to be day-active (DA). To investigate the contributions of different neural systems to the support of this sh...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2009.10.019

    authors： Castillo-Ruiz A,Nixon JP,Smale L,Nunez AA

    更新日期：2010-01-20 00:00:00

  • Microbial genome dynamics in CNS pathogenesis.

    abstract：:The balancing act between microbes and their host in commensal and disease states needs to be deciphered in order to fully treat and combat infectious diseases. The elucidation of microbial genome dynamics in each instance is therefore required. In this context, the major bacterial meningitis pathogens are Neisseria m...

    journal_title：Neuroscience

    pub_type： 杂志文章,评审

    doi：10.1016/j.neuroscience.2007.01.059

    authors： Davidsen T,Koomey M,Tønjum T

    更新日期：2007-04-14 00:00:00

  • Somatotopic direct projections from orofacial areas of secondary somatosensory cortex to trigeminal sensory nuclear complex in rats.

    abstract：:Little is known about the projections from the orofacial areas of the secondary somatosensory cortex (S2) to the pons and medulla including the second-order somatosensory neuron pools. To address this in rats, we first examined the distribution of S2 neurons projecting to the trigeminal principal nucleus (Vp) or oral ...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2012.05.065

    authors： Haque T,Akhter F,Kato T,Sato F,Takeda R,Higashiyama K,Moritani M,Bae YC,Sessle BJ,Yoshida A

    更新日期：2012-09-06 00:00:00

  • Striatal neurons expressing somatostatin-like immunoreactivity: evidence for a peptidergic interneuronal system in the cat.

    abstract：:Neurons expressing immunoreactivity to antisera against somatostatin 14 and other somatostatin-related peptides were identified in the striatum of cats and nonhuman primates. In each species, immunoreactive neurons were distributed singly and in small groups in the caudate nucleus, putamen and ventral striatum. A deta...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(86)90030-8

    authors： Chesselet MF,Graybiel AM

    更新日期：1986-03-01 00:00:00

  • Endogenous hydrogen sulfide is involved in regulation of respiration in medullary slice of neonatal rats.

    abstract：:The purpose of the present study was to verify our assumption that rhythmic respiratory activity may be regulated by endogenous hydrogen sulfide (H(2)S) in the medullary slices of neonatal rats. We found that a moderate concentration of donor of H(2)S, NaHS, mainly induced diphasic respiratory responses indicated by c...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2008.08.025

    authors： Hu H,Shi Y,Chen Q,Yang W,Zhou H,Chen L,Tang Y,Zheng Y

    更新日期：2008-10-28 00:00:00

  • A functional alpha-bungarotoxin receptor is present in chick cerebellum: purification and characterization.

    abstract：:It has recently been demonstrated that alpha-bungarotoxin receptors, which behave as functional nicotinic receptors, are present in chick CNS. In this paper, we report the purification and characterization of a functional alpha-bungarotoxin receptor from chick cerebellum, a nervous tissue in which a clear inhibition o...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(92)90386-g

    authors： Gotti C,Hanke W,Schlue WR,Briscini L,Moretti M,Clementi F

    更新日期：1992-09-01 00:00:00

  • Chronic stress impairs acoustic conditioning more than visual conditioning in rats: morphological and behavioural evidence.

    abstract：:Chronic stress affects brain areas involved in learning and emotional responses. These alterations have been related with the development of cognitive deficits in major depression. The aim of this study was to determine the effect of chronic immobilization stress on the auditory and visual mesencephalic regions in the...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2005.07.032

    authors： Dagnino-Subiabre A,Terreros G,Carmona-Fontaine C,Zepeda R,Orellana JA,Díaz-Véliz G,Mora S,Aboitiz F

    更新日期：2005-01-01 00:00:00

  • Differences in the expression of transient receptor potential channel V1, transient receptor potential channel A1 and mechanosensitive two pore-domain K+ channels between the lumbar splanchnic and pelvic nerve innervations of mouse urinary bladder and col

    abstract：:The bladder and distal colon are innervated by lumbar splanchnic (LSN) and pelvic nerves (PN) whose axons arise from dorsal root ganglia (DRG) neurons at thoracolumbar (TL) and lumbosacral (LS) spinal levels, respectively. In an attempt to understand the molecular basis of differences between LSN and PN mechanosensiti...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2011.04.049

    authors： La JH,Schwartz ES,Gebhart GF

    更新日期：2011-07-14 00:00:00

  • Inhibitors of the NMDA-Nitric Oxide Signaling Pathway Protect Against Neuronal Atrophy and Synapse Loss Provoked by l-alpha Aminoadipic Acid-treated Astrocytes.

    abstract：:The impact of treating astrocytes with the astrocytic toxin l-alpha amino adipic acid (L-AAA) on neuronal outgrowth, complexity and synapse formation was assessed, using a model of astrocyte-neuronal interaction. Treatment of rat primary cortical neurons with conditioned media (CM) derived from astrocytes treated with...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2018.09.023

    authors： David J,O'Toole E,O'Reilly K,Thuery G,Assmann N,Finlay D,Harkin A

    更新日期：2018-11-10 00:00:00

  • Magnetic resonance imaging of Huntington's disease: preparing for clinical trials.

    abstract：:The known genetic mutation causing Huntington's disease (HD) makes this disease an important model to study links between gene and brain function. An autosomal dominant family history and the availability of a sensitive and specific genetic test allow pre-clinical diagnosis many years before the onset of any typical c...

    journal_title：Neuroscience

    pub_type： 杂志文章,评审

    doi：10.1016/j.neuroscience.2009.01.045

    authors： Klöppel S,Henley SM,Hobbs NZ,Wolf RC,Kassubek J,Tabrizi SJ,Frackowiak RS

    更新日期：2009-11-24 00:00:00

  • Mapping of perineuronal nets in the rat brain stained by colloidal iron hydroxide histochemistry and lectin cytochemistry.

    abstract：:Net-like structures, visualized with the Golgi technique and several histochemical and immunocytochemical methods, have been described to ensheath somata, parts of dendrites and axon initial segments of various types of neurons. The origin and function of these perineuronal nets have been controversially discussed. Re...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(94)90044-2

    authors： Seeger G,Brauer K,Härtig W,Brückner G

    更新日期：1994-01-01 00:00:00

  • Individual Mesopontine Neurons Implicated in Anesthetic Loss-of-consciousness Employ Separate Ascending Pathways to the Cerebral Cortex.

    abstract：:The mesopontine tegmental anesthesia area (MPTA) is a small brainstem nucleus that, when exposed to minute quantities of GABAA receptor agonists, induces a state of general anesthesia. In addition to immobility and analgesia this state is accompanied by widespread suppression of neural activity in the cerebral cortex ...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2020.02.022

    authors： Lellouche Y,Minert A,Schreiber C,Aroch I,Vaso K,Fishman Y,Devor M

    更新日期：2020-04-15 00:00:00

  • Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies.

    abstract：:Seipin is a widely expressed protein but with highest levels found in the brain and testes. Seipin function is not yet completely understood, therefore the aim of this study was to evaluate the expression of BSCL2 transcripts in the central nervous system (CNS) of humans and investigate the effect of their overexpress...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2018.11.004

    authors： Sánchez-Iglesias S,Fernández-Liste A,Guillín-Amarelle C,Rábano A,Rodriguez-Cañete L,González-Méndez B,Fernández-Pombo A,Senra A,Araújo-Vilar D

    更新日期：2019-01-01 00:00:00

  • Anatomical characterization of retinal ganglion cells that project to the nucleus of the basal optic root in the turtle (Pseudemys scripta elegans).

    abstract：:There is little detailed information about retinal ganglion cells which project to specific central targets in the brain. The present study examined retinal ganglion cells projecting to the nucleus of the basal optic root, a major accessory retinal target in the turtle. These ganglion cells were first selectively labe...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/0306-4522(94)90446-4

    authors： Zhang D,Eldred WD

    更新日期：1994-08-01 00:00:00

  • Aging and large-scale functional networks: white matter integrity, gray matter volume, and functional connectivity in the resting state.

    abstract：:Healthy aging is accompanied by neurobiological changes that affect the brain's functional organization and the individual's cognitive abilities. The aim of this study was to investigate the effect of global age-related differences in the cortical white and gray matter on neural activity in three key large-scale netwo...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2015.01.049

    authors： Marstaller L,Williams M,Rich A,Savage G,Burianová H

    更新日期：2015-04-02 00:00:00

  • Early-life Photoperiod Influences Depression-like Behavior, Prepulse Inhibition of the Acoustic Startle Response, and Hippocampal Astrogenesis in Mice.

    abstract：:Environmental factors during early life stages affect behavioral and physiological phenotypes in adulthood. We examined the effect of photoperiods during development on neurogenesis and affective behaviors during adolescence/adulthood using C57BL/6J mice. Mice were born and raised until weaning under long-day conditio...

    journal_title：Neuroscience

    pub_type： 杂志文章

    doi：10.1016/j.neuroscience.2018.01.038

    authors： Takai Y,Kawai M,Ogo T,Ichinose T,Furuya S,Takaki N,Tone Y,Udo H,Furuse M,Yasuo S

    更新日期：2018-03-15 00:00:00