Abstract:
:More than 30 genetic causes have been identified for the inherited neuropathies collectively referred to as Charcot-Marie-Tooth (CMT) disease. Previous therapies for CMT were limited to traditional approaches such as rehabilitation medicine, ambulation aids, and pain management. Identification of the genes causing CMT has led to improved genetic counseling and assistance in family planning. Identification of these genes is beginning to delineate common molecular pathways in multiple forms of CMT that can be exploited in future molecular therapies. Scientifically based clinical trials for CMT are currently being implemented. Techniques of gene therapy are advancing to the point that they may become feasible options for patients with CMT and other neurodegenerative diseases.
journal_name
Neuromolecular Medjournal_title
Neuromolecular medicineauthors
Shy MEdoi
10.1385/nmm:8:1-2:255subject
Has Abstractpub_date
2006-01-01 00:00:00pages
255-78issue
1-2eissn
1535-1084issn
1559-1174pii
NMM:8:1-2:255journal_volume
8pub_type
杂志文章abstract::Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterized by a wide spectrum of clinical manifestations. Both the classic and atypical forms of Rett syndrome are primarily due to mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Mutations in the X-linked cy...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-012-8212-z
更新日期:2013-03-01 00:00:00
abstract::The high-metabolic demand of neurons and their reliance on glucose as an energy source places them at risk for dysfunction and death under conditions of metabolic and oxidative stress. Uncoupling proteins (UCPs) are mitochondrial inner membrane proteins implicated in the regulation of mitochondrial membrane potential ...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1385/NMM:8:3:389
更新日期:2006-01-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that primarily affects motor neurons and descending motor tracts of the CNS. We have evaluated the CNS of a murine model of familial ALS based on the over-expression of mutant human superoxide dismutase (mSOD; G93A) using magnetic resonance microscopy ...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-007-8002-1
更新日期:2007-01-01 00:00:00
abstract::The metabolic syndrome is characterized by the clustering of various common metabolic abnormalities in an individual and it is associated with increased risk for the development of type 2 diabetes and cardiovascular diseases. Its prevalence in the general population is approximately 25%. Central fat accumulation and i...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-008-8022-5
更新日期:2008-01-01 00:00:00
abstract::It is an established fact that orexin plays an important role in regulating the reproductive axis and the secretions of gonadotropin-releasing hormone (GnRH)/luteinizing hormone (LH). However, its precise cellular and molecular mechanisms are not fully recognized. Accordingly, the aim of the present study is to find o...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-018-8506-x
更新日期:2018-12-01 00:00:00
abstract::Parkinson's disease (PD) is the most common neurodegenerative motor disorder, marked by chronic progressive loss of neurons in the substantia nigra, thereby damaging purposeful control of movement. For decades, it was believed that PD was caused solely by environmental causes. However, the discovery of genetic factors...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1385/NMM:1:2:95
更新日期:2002-01-01 00:00:00
abstract::A key neuropathological hallmark of Alzheimer's disease (AD) is the loss of neocortical and hippocampal synapses, which is closely correlated with the degree of memory impairment. Mutations in the genes encoding the amyloid precursorprotein (APP) and presenilins are responsible from some cases of early-onset autosomal...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1385/NMM:2:2:167
更新日期:2002-01-01 00:00:00
abstract::P-glycoprotein (P-gp), which is coded by the MDR1 gene, in the brain capillary endothelial cell limits the entry of many drugs including antipsychotics into the brain. The aim of this study is to examine whether a functional polymorphism, a C to T substitution at position 3435 in exon 26 of the MDR1 gene, is associate...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-008-8041-2
更新日期:2008-01-01 00:00:00
abstract::Aluminum (Al) is an environmental neurotoxin that affects cerebral functions and causes health complications. However, the role of Al in arbitrating glia homeostasis and pathophysiology remains obscure. Astrocyte, microglia activation (reactive gliosis), and associated inflammatory events play a decisive role in neuro...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-012-8210-1
更新日期:2013-03-01 00:00:00
abstract::Elevated C-reactive protein (CRP) levels increase the risk of poor functional disability in patients with ischemic stroke (IS). This study aimed to investigate the association between CRP gene polymorphisms and 3-month functional disability of large artery atherosclerotic (LAA) stroke in Han Chinese. Patients with fir...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-018-8485-y
更新日期:2018-06-01 00:00:00
abstract::The cerebral ischemia is one of the most common diseases in the central nervous system that causes progressive disability or even death. In this connection, the inflammatory response mediated by the activated microglia is believed to play a central role in this pathogenesis. In the event of brain injury, activated mic...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-016-8394-x
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Scutellarin, an herbal compound, can effectively suppress the inflammatory response in activated microglia/brain macrophage(AM/BM) in experimentally induced cerebral ischemia; however, the underlying mechanism for this has not been fully clarified. We sought to elucidate if scutellarin would exert its anti-i...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-019-08582-2
更新日期:2020-06-01 00:00:00
abstract::Accumulating studies have suggested the important role of microRNA (miRNA) in ischemic cerebral infarction. However, little is known of the modifying effect of miR-5787, a newly found miRNA, in ischemic cerebral infarction. We aim to elucidate the effect and underlying molecular mechanism of miR-5787 in the pathogenes...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-020-08628-w
更新日期:2020-11-09 00:00:00
abstract::Certain serine proteases from the circulation (e.g., coagulation factors), inflammatory cells (e.g., mast-cell tryptase, neutrophil proteinase 3), and from many other cell types (e.g., trypsins) can specifically signal to cells by cleaving protease-activated receptors (PARs), a family of four G protein-coupled recepto...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1385/NMM:7:1-2:079
更新日期:2005-01-01 00:00:00
abstract::Danshensu (DSS) and tetramethylpyrazine (TMP) are active ingredients of Salvia miltiorrhiza Bge. and Ligusticum chuanxiong Hort that are widely used in oriental medicine. Structural combination of compounds with known biological activity may lead to the formation of a molecule with multiple properties or new function ...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-016-8399-5
更新日期:2016-12-01 00:00:00
abstract::Reperfusion after cerebral ischemia causes additional ischemic injuries due to sudden recovery of blood supply. It usually produces excessive reactive species, mitochondrial dysfunction, oxidative stress, and cell apoptosis. Our study is designed to examine the role of miR-421 antagomir in cerebral ischemia/reperfusio...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-020-08600-8
更新日期:2020-09-01 00:00:00
abstract::Clinacanthus nutans Lindau (C. nutans), commonly known as Sabah Snake Grass in southeast Asia, is widely used in folk medicine due to its analgesic, antiviral, and anti-inflammatory properties. Our recent study provided evidence for the regulation of cytosolic phospholipase A2 (cPLA2) mRNA expression by epigenetic fac...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-016-8404-z
更新日期:2016-09-01 00:00:00
abstract::In addition to myelin loss and oligodendrocyte injury, axonal damage is a major cause of irreversible neurological disability in multiple sclerosis (MS). A series of studies have demonstrated that Rho kinase (ROCK) is involved in synaptic plasticity of neurons. Here, we found that ROCK activity in MS serum was elevate...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-015-8374-6
更新日期:2015-12-01 00:00:00
abstract::Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia and epilepsy. The disease is caused by a pentanucleotide ATTCT expansion in intron 9 of the ATXN10 gene on chromosome 22q13.3. SCA10 has shown a geographical distribution throughout...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-017-8464-8
更新日期:2017-12-01 00:00:00
abstract::Despite the significant amount of experimental data available on trehalose, the molecular mechanism responsible for its intracellular stabilising properties has not emerged yet. The repair of cellular homeostasis in many protein-misfolding diseases by trehalose is credited to the disaccharide being an inducer of autop...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-013-8275-5
更新日期:2014-06-01 00:00:00
abstract::T-cells directed to self-antigens ("autoimmune" T-cells) have traditionally been perceived as tending to attack the body's own tissues, and likely to exert their destructive effects unless they undergo deletion in the thymus during ontogeny. Naturally occurring CD4+CD25+ regulatory T-cells were viewed as thymus-derive...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1385/NMM:7:3:197
更新日期:2005-01-01 00:00:00
abstract::Abnormal interactions and misfolding of synaptic proteins in the nervous system are being extensively explored as important pathogenic events resulting in neurodegeneration in various neurological disorders. These include Alzheimer's disease (AD), Parkinson's disease (PD), and dementia with Lewy bodies (DLB). In AD, m...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1385/NMM:4:1-2:21
更新日期:2003-01-01 00:00:00
abstract::Mitochondria are key cytoplasmic organelles, responsible for generating cellular energy, regulating intracellular calcium levels, altering the reduction-oxidation potential of cells, and regulating cell death. Increasing evidence suggests that mitochondria play a central role in aging and in neurodegenerative diseases...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-008-8044-z
更新日期:2008-01-01 00:00:00
abstract::The present study demonstrates the efficacies of synthetic 1,8-cineole and an 1,8-cineole-rich supercritical carbon dioxide (SC-CO2) extract of small cardamom seeds in preventing oligomerization of amyloid beta peptide (Aβ42) and inhibiting iron-dependent oxyradical production in vitro. The oligomerization of Aβ42 was...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-019-08574-2
更新日期:2020-03-01 00:00:00
abstract::Sphingosine 1-phosphates (S1Ps) are bioactive lipids that mediate a diverse range of effects through the activation of cognate receptors, S1P1-S1P5. Scrutiny of S1P-regulated pathways over the past three decades has identified important and occasionally counteracting functions in the brain and cerebrovascular system. ...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-020-08632-0
更新日期:2020-11-12 00:00:00
abstract::Stroke remains a significant unmet clinical need with limited therapeutic options. The peculiar feature of ischemic stroke is the interruption in brain circulation, resulting in a cascade of detrimental cerebrovasculature alterations. Treatment strategies designed to maintain potency of the cerebrovasculature may prot...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-019-08533-x
更新日期:2019-12-01 00:00:00
abstract::Physical exercise has long been recognized as highly beneficial for brain and body health. The molecular mechanisms responsible for translation of exercise stimuli in the brain have claimed attention due to mounting evidence for the neuroprotective actions of the exercise and its positive effects in preventing both ag...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-008-8026-1
更新日期:2008-01-01 00:00:00
abstract::Epidemiological studies demonstrate that pain frequently occurs comorbid with depression. Gentiopicroside (Gent) is a secoiridoid compound isolated from Gentiana lutea that exhibits analgesic properties and inhibits the expression of GluN2B-containing N-methyl-D-aspartate (NMDA) receptors in the anterior cingulate cor...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-013-8280-8
更新日期:2014-06-01 00:00:00
abstract::Stroke is the second foremost cause of mortality worldwide and a major cause of long-term disability. Due to changes in lifestyle and an aging population, the incidence of stroke continues to increase and stroke mortality predicted to exceed 12 % by the year 2030. However, the development of pharmacological treatments...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-016-8403-0
更新日期:2016-09-01 00:00:00
abstract::Over the past several decades there has been considerable progress in our basic knowledge as to the mechanisms and factors regulating Mn toxicity. The disorder known as manganism is associated with the preferential accumulation of Mn in the globus pallidus of the basal ganglia which is generally considered to be the m...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-009-8088-8
更新日期:2009-01-01 00:00:00