Abstract:
OBJECTIVE:To determine the functional abnormalities of the Leu89Pro mutation in connexin32 (CX32), which we have previously reported is present within an X-linked dominant Charcot-Marie-Tooth disease family. In this family, male patients were moderately to severely affected. METHODS:We performed immunofluorescence to investigate whether the Leu89Pro CX32 protein was transported to the cell membrane in HeLa and Schwann cells. First, we constructed the eukaryotic express plasmids expressing CX32 (wild-type or Leu89Pro) and enhanced green fluorescent protein by the gene recombination technology. Then the recombinant plasmids were transiently transfected into communication-incompetent HeLa cells and human Schwann cells by the lipofectamine method. Later, we double-labeled cells for both CX32 and markers of the ER (calnexin) or the Golgi (58-kDa protein) at 24 h or 48 h. The images were collected using a Leica TCS SP5 II confocal microscope. RESULTS:The mutant CX32 protein was localized in the endoplasmic reticulum and failed to reach the cell membrane to form gap junctions. CONCLUSION:Our results indicated that the Leu89Pro substitution in the second transmembrane domain of CX32 disrupts the trafficking of the protein, inhibiting the assembly of CX32 gap junctions, which in turn may result in peripheral neuropathy. This functional abnormality may explain the moderate to severe phenotype seen in Leu89Pro patients, and as such represents a promising therapeutic target in the treatment of this subset of CMTX patients.
journal_name
Neurol Resjournal_title
Neurological researchauthors
Da Y,Wang W,Liu Z,Chen H,Di L,Previch L,Chen Zdoi
10.1080/01616412.2016.1204494subject
Has Abstractpub_date
2016-10-01 00:00:00pages
897-902issue
10eissn
0161-6412issn
1743-1328journal_volume
38pub_type
杂志文章abstract::Despite the accumulation of intraoperative data on arteriovenous malformations (AVMs), details of the haemodynamics have not yet been elucidated. A hydraulic model was constructed from silicone and glass tubes to simulate a high-flow AVM. During stepwise obliteration of the nidus, haemodynamic changes were continuousl...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.1993.11740174
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Stroke is a multi-factorial disease influenced by both genetic and environmental factors. The aim of this case-control study was to determine the association between Endothelial Nitric Oxide Synthase G894T (rs1799983) gene polymorphism and susceptibility to ischemic stroke (IS) in North Indian po...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.2016.1181376
更新日期:2016-07-01 00:00:00
abstract:OBJECTIVE:Music-supported therapy (MST) is a new approach for motor rehabilitation of stroke patients. Recently, many studies have demonstrated that MST improved the motor functions of post-stroke patients. However, the underlying mechanism for this effect is still unclear. It may result from repeated practice or repea...
journal_title:Neurological research
pub_type: 杂志文章,随机对照试验
doi:10.1179/1743132815Y.0000000034
更新日期:2015-05-01 00:00:00
abstract:OBJECTIVES:Parkinson's disease (PD) is the most common neurodegenerative disease in humans, and an abundance of evidence has implicated apoptosis signaling pathways in the neurodegeneration of PD. The purpose of this study was to assess the role of B-cell lymphoma 2 (Bcl-2)-associated athanogene 5 (BAG5) protein, whic...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/1743132812Y.0000000102
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:To explore the value of dynamically monitored levels of plasma prothrombin fragment(1+2) (F(1+2)) and D-dimer in the process of thrombolysis with urokinase. METHODS:Blood samples were collected at baseline and at hours 1, 2, 3, 6, 12, 24, 48, 72, and 96 after urokinase infusion finished. The levels of plasma...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/174313209X443991
更新日期:2009-05-01 00:00:00
abstract::Mountain trekking is significantly increasing in popularity. Hypoxia seems to play a key role in the pathogenesis of acute mountain sickness (AMS). The purpose of this study was to investigate regional cerebral (rSO2) and peripheral (SaO2) oxygen saturation for the first time, during 22 days high altitude trekking (me...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/016164103101201175
更新日期:2003-03-01 00:00:00
abstract::We examined the effect of local anaesthesia of the skin on somatosensory evoked potentials (SEPs) and psychophysical magnitude estimates for a constant intensity air-puff stimulation (7 kg.cm-2) in 23 normal subjects. Before and after intradermal injection (0.1 ml of 1% xylocain) to the tip of the right index finger, ...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.1995.11740283
更新日期:1995-02-01 00:00:00
abstract:OBJECTIVES:In order to avoid occurrence of post-operative hygromas in specific hydrocephalus patients being at high risk of overdrainage, a combination of programmable valve and anti-gravity device is widely recommended. We analyzed our series of hydrocephalus patients implanted with such a shunt configuration focusin...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/1743132811Y.0000000079
更新日期:2012-04-01 00:00:00
abstract::Electrical stimulation of peripheral nerves can be used to cause muscle contraction, to activate reflexes, and to modulate some functions of the central nervous system (neuromodulation). If applied to the spinal cord or nerves controlling the lower urinary tract, electrical stimulation can produce bladder or sphincter...
journal_title:Neurological research
pub_type: 杂志文章,评审
doi:10.1179/016164102101200294
更新日期:2002-07-01 00:00:00
abstract::Following cerebral ischemia, the extracellular concentration of excitatory amino acids increases, and the excitatory cell death may play an important role contributing to ischemic neuronal damage. Although sequential metabolic changes in permanent local cerebral ischemia have been reported, the effect of reperfusion i...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.1996.11740462
更新日期:1996-12-01 00:00:00
abstract::The possible role of nitric oxide (NO) on vibrissa-stimulated increase of regional cerebral cerebral blood flow (rCBF) and cerebral metabolic rate of glucose (rCMRglu) was investigated in conscious Wistar rats by using an inhibitor of NO synthase, NG-nitro-L-arginine (NOLAG) at a concentration of 30 mg/kg. In vivo aut...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.1993.11740103
更新日期:1993-02-01 00:00:00
abstract:OBJECTIVE:To investigate mechanisms behind the faster rehabilitation of limb fractures when associated with traumatic brain injury (TBI). METHODS:New Zealand rabbits were divided into TBI group and sham-operation group for four studies as follows: (1) blood and cerebrospinal fluid (CSF) were drawn on days 1, 3, and 7 ...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/1743132813Y.0000000201
更新日期:2013-06-01 00:00:00
abstract::A computer software program (Seapit) was developed for precise determination of intracranial targets identified by stereotactic computed tomography (CT). This program was added to the software of a GE 8800 CT scanner to perform the following operations: millimetre precise calculation and display of the rectilinear coo...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.1987.11739781
更新日期:1987-06-01 00:00:00
abstract:OBJECTIVE:The role of inflammation in cognitive alterations in a post-operative setting is still not fully understood. Surgical interventions can cause systemic inflammations which eventually can induce neuroinflammation. However, the main causes of functional changes after surgery are still elusive. In this study, we ...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.2016.1242452
更新日期:2016-11-01 00:00:00
abstract:OBJECTIVE:Recurrent lumbar disc herniation (rLDH) is a common issue after primary discectomy and can cause severe pain, morbidity, and reoperation. The purpose of this systematic review was to evaluate the surgical management of recurrent lumbar disc herniation. METHODS:A systematic literature search was conducted usi...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.2020.1787661
更新日期:2020-12-01 00:00:00
abstract::The ocular microtremor (OMT) is mediated by the oculomotor area of the brainstem and is altered in several pathologic states, including traumatic brain injury, general anesthesia, brain death, coma, Parkinsonism and multiple sclerosis. The EYETECT tremor monitor is a non-invasive means of measuring the frequency and a...
journal_title:Neurological research
pub_type: 杂志文章,评审
doi:10.1179/016164107X240198
更新日期:2007-10-01 00:00:00
abstract:OBJECTIVES:To assess prospectively the significance of sonographic measurements of the median nerve in the diagnosis of carpal tunnel syndrome (CTS), to look for proper parameters and cutoff values for the sonographic diagnosis, and to correlate with the electrophysiological findings. MATERIALS AND METHODS:This study ...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/1743132811Y.0000000028
更新日期:2011-11-01 00:00:00
abstract::Single-cell experiments were undertaken to characterize the neurons of the rat habenular complex (Hab) which respond to noxious input and the extent to which the noxious responses can be modulated by dorsal raphe stimulation. The reported observations demonstrate that habenular neurons exhibit two response patterns to...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.1990.11739929
更新日期:1990-06-01 00:00:00
abstract::The aim of this study was to use quantitative microdialysis to estimate the true extracellular concentrations of glucose and lactate in minimally disturbed human brain. These values are important as criteria for microdialytical monitoring in critical care patients and for determining therapy. Microdialysis procedures ...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/016164101101198785
更新日期:2001-07-01 00:00:00
abstract:OBJECTIVES:To assess the prevalence of calcification surrounding the odontoid process (odontoid calcification) with crowned dens syndrome (CDS) and without CDS (non-CDS) and investigate factors that may related to the onset of CDS. METHODS:Retrospective review of consecutive patients visited Sir Run Run Shaw Hospital ...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.2020.1792700
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:Hemorrhagic transformation (HT) is a common complication of ischemic stroke. We performed this study to determine whether aspartate aminotransferase (AST) to alanine aminotransferase (ALT) ratio (AAR) was related to HT, as well as compare the predictive values of AAR, ALT and AST for HT in patients with isch...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.2020.1796403
更新日期:2020-11-01 00:00:00
abstract:OBJECTIVES:Intracranial aneurysms (IAs) of the posterior circulation (PC) rupture more frequently and their morbidity and mortality rates are higher compared to anterior circulation. Morphological parameters such as size ratio (SR), inflow angle and parent artery geometry are believed to contribute significantly in det...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/1743132813Y.0000000306
更新日期:2014-08-01 00:00:00
abstract:OBJECTIVES:In the present study, we investigated the effects of treadmill exercise on microglial activation and the subsequent release of tumour necrosis factor-alpha (TNF-alpha), interleukin (IL)-6 and IL-1-beta in the hippocampus in a rat model of type 2 diabetes. METHODS:At 30 weeks of age, diabetic (Zucker diabeti...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/1743132815Y.0000000015
更新日期:2015-08-01 00:00:00
abstract::The correlation between the activities of anti-GQ1b IgG antibodies in sera of patients with Miller Fisher syndrome and their clinical manifestations was investigated. The clinical severity was analyzed for 16 patients by scoring their symptoms during the peak of the clinical course and 4 weeks after onset. Serum sampl...
journal_title:Neurological research
pub_type: 临床试验,杂志文章
doi:10.1080/01616412.1998.11740573
更新日期:1998-10-01 00:00:00
abstract:OBJECTIVES:It has been suggested that metalloproteinase-9 (MMP-9) could predict the onset of cerebral vasospasm after subarachnoidal haemorrhage (SAH). The aim of this study was to analyse, in patients with SAH, the difference between patients with MRI ischaemic infarcts and patients without, and to investigate the rol...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/1743132815Y.0000000045
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVES:In this study, we aimed to investigate the effect of bone mesenchymal stem cells (BMSCs) conditioned medium on BMP4-induced activation of the Smad signaling pathway during the process of neural stem cells differentiation. METHODS:We designed four experimental groups: (A) control group, (B) BMP-4 treatment g...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.2016.1232549
更新日期:2016-11-01 00:00:00
abstract::Intravenous infusion of glycerol has been used in patients with a cerebral infarction, expecting improvement in brain edema and cerebral blood flow (CBF). However, the mechanism of the improvement of CBF has not been clearly demonstrated. The aim of this study in the rat pial microvasculature after transient middle ce...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.1999.11741015
更新日期:1999-12-01 00:00:00
abstract::Choroid plexus carcinoma in an adult case is a very rare tumor and difficult to differentiate from metastatic tumors. The authors report a case of a 49-year-old female with choroid plexus carcinoma who previously had multiple carcinomas. In this case, synaptophysin immunohistochemistry proved to be extremely helpful f...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.2000.11740704
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVE:To investigate the perfusion parameters of computed tomography (CT) in hypoxicischemic encephalopathy (HIE) after off-pump coronary artery bypass grafting (OPCABG), and its potential in predicting the occurrence and prognosis of hypoxic-ischemic encephalopathy. METHODS:We selected 830 patients. The patients ...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1080/01616412.2017.1315862
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVE:To explore the primary regularity of cerebral electrical impedance (CEI) change in healthy people, patients with intracerebral hemorrhage (ICH) and patients with cerebral infarction (CI). METHODS:CEI of 200 healthy volunteers, 78 patients with ICH and 51 patients with CI were measured by noninvasive brain-ed...
journal_title:Neurological research
pub_type: 杂志文章
doi:10.1179/016164106X91843
更新日期:2006-01-01 00:00:00