Abstract:
:The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common molecularly designated form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive distal muscle atrophy and weakness, areflexia, and variable sensory abnormalities. Affected males have moderate-to-severe symptoms, whereas heterozygous females are usually mildly affected or even asymptomatic. Several patients also have manifestations of central nervous system involvement or hearing impairment. Electrophysiological and pathological studies of peripheral nerves show evidence of demyelinating neuropathy with prominent axonal degeneration. A large number of mutations in the GJB1 gene encoding the gap junction (GJ) protein connexin32 (Cx32) cause CMT1X. Cx32 is expressed by Schwann cells and oligodendrocytes, as well as by other tissues, and the GJ formed by Cx32 play an important role in the homeostasis of myelinated axons. The reported CMT1X mutations are diverse and affect both the promoter region as well as the coding region of GJB1. Many Cx32 mutants fail to form functional GJ, or form GJ with abnormal biophysical properties. Furthermore, Cx32 mutants are often retained intracellularly either in the endoplasmic reticulum or Golgi in which they could potentially have additional dominant-negative effects. Animal models of CMT1X demonstrate that loss of Cx32 in myelinating Schwann cells causes a demyelinating neuropathy. No definite phenotype-genotype correlation has yet been established for CMT1X and effective molecular based therapeutics for this disease, remain to be developed.
journal_name
Neuromolecular Medjournal_title
Neuromolecular medicineauthors
Kleopa KA,Scherer SSdoi
10.1385/nmm:8:1-2:107subject
Has Abstractpub_date
2006-01-01 00:00:00pages
107-22issue
1-2eissn
1535-1084issn
1559-1174pii
NMM:8:1:107journal_volume
8pub_type
杂志文章,评审abstract::We have previously reported that mild traumatic brain injury (mTBI) induced cognitive deficits as well as apoptotic changes in the brains of mice. Apoptosis may be caused by severe, prolonged accumulation of misfolded proteins, and protein aggregation in the endoplasmic reticulum (ER stress). In an additional study, w...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-015-8340-3
更新日期:2015-03-01 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::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::Parkinson's disease (PD) features oxidative stress and accumulation of misfolded (unfolded, alternatively folded, or mutant) proteins with associated loss of dopaminergic neurons. Oxidative stress and the accumulated misfolded proteins elicit cellular responses that include an endoplasmic reticulum (ER) stress respons...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-008-8047-9
更新日期:2008-01-01 00:00:00
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::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::Familial dysautonomia (FD) is a sensory and autonomic neuropathy that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons. It is autosomally inherited and occurs almost exclusively among individuals of Ashkenazi Jewish descent. The pathological and clinical manifestations of ...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-007-8019-5
更新日期:2008-01-01 00:00:00
abstract::Functional electrical stimulation (FES) has been widely adopted to elicit muscle contraction in rehabilitation training after spinal cord injury (SCI). Conventional FES modalities include stimulations coupled with rowing, cycling, assisted walking and other derivatives. In this review, we studied thirteen clinical rep...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-019-08589-9
更新日期:2020-12-01 00:00:00
abstract::A number of studies have investigated the association between tumor necrosis factor (TNF)-α gene polymorphisms and ischemic stroke susceptibility. However, results of different individual studies are often inconsistent. To provide a more robust evaluation of the association between polymorphisms of the TNF-α gene and ...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s12017-015-8365-7
更新日期:2015-12-01 00:00:00
abstract::Schizophrenia is a complex psychiatric disorder characterized by memory impairments with delusions and hallucinations. Several investigations have focused on determining the association between NOS1 (nitric oxide synthase-1) polymorphisms and risk of schizophrenia (SZ). However, the association of rs2682826, rs3782206...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,meta分析
doi:10.1007/s12017-017-8460-z
更新日期:2017-09-01 00:00:00
abstract::The α-synuclein gene (SNCA) plays a major role in the aetiology of Lewy body disease (LBD) including Parkinson's disease (PD). Point mutations and genetic alterations causing elevated gene expression are causally linked to familial PD. To what extent epigenetic changes play a role in the regulation of α-synuclein expr...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-011-8163-9
更新日期:2011-12-01 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::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::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::Glioma ranks first among the aggressive brain tumors all over the world. LncRNA LINC00689 has been confirmed to play key roles in the progression of cancers, and LINC00689 was upregulated in glioma. However, the biological function of LINC00689 in glioma is unclear. qRT-PCR was applied to detect the expressions of LIN...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-020-08635-x
更新日期:2021-01-03 00:00:00
abstract::He spent tens of thousands of hours peering through the oculars of a microscope at stained brain tissue sections from thousands of patients who died with or without a neurodegenerative disorder; most of those patients he had himself cared for and had removed and processed their brain tissues upon their death. His disc...
journal_title:Neuromolecular medicine
pub_type: 传,历史文章,杂志文章
doi:10.1007/s12017-010-8124-8
更新日期:2011-03-01 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::GBM is the highest incidence in primary intracranial malignancy, and it remains poor prognosis even though the patient is gave standard treatment. Despite decades of intense research, the complex biology of GBM remains elusive. In view of eight hallmarks of cancer which were proposed in 2011, studies related to the ei...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,评审
doi:10.1007/s12017-018-8507-9
更新日期:2018-12-01 00:00:00
abstract::Phospholipids are the main constituents of brain membranes. Formation of new membranes requires that uridine, the omega-3 polyunsaturated fatty acids such as docosahexaenoic acid (DHA), and choline, the three circulating precursors of major phospholipids, interact via the Kennedy pathway. Supplementation of laboratory...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-016-8414-x
更新日期:2016-09-01 00:00:00
abstract::Clathrin assembly proteins AP180 and CALM regulate the assembly of clathrin-coated vesicles (CCVs), which mediate diverse intracellular trafficking processes, including synaptic vesicle (SV) recycling at the synapse. Although studies using several invertebrate model systems have indicated a role for AP180 in SV recycl...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-012-8194-x
更新日期:2013-03-01 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::Origins of onset and progression of motor neurodegeneration in amyotrophic lateral sclerosis (ALS) are not clearly known, but may include impairment of mitochondrial bioenergetics. We used quantitative PCR approaches to analyze the mitochondrial oxidative phosphorylation (OXPHOS) transcriptomes of spinal cord tissue a...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1007/s12017-014-8321-y
更新日期:2014-12-01 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::There is increasing evidence implicating apoptosis-mediated cell death in the pathogenesis of neurodegenerative diseases. One important event in the apoptotic cascade is the release of cytochrome c by mitochondria into the cytoplasm, activating caspase-9, leading to the subsequent activation of downstream executioner ...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1385/NMM:1:3:183
更新日期:2002-01-01 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::The original version of this article unfortunately contained a mistake. Gary S. Laco should not be listed as an author in the author group. ...
journal_title:Neuromolecular medicine
pub_type: 杂志文章,已发布勘误
doi:10.1007/s12017-020-08593-4
更新日期:2020-06-01 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::The gene encoding alpha-T-catenin, CTNNA3, is positioned within a region on chromosome 10, showing strong evidence of linkage to Alzheimer's disease (AD), and is therefore a good positional candidate gene for this disorder. We have demonstrated that alpha-T-catenin is expressed in human brain, and like other alpha-cat...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1385/NMM:5:2:133
更新日期:2004-01-01 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::Selective degeneration and death of motor neurons in SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS) is accompanied by axonal disorganization and reduced slow axonal transport in the three most frequently used mouse models of mutant SOD1-mediated ALS. To test whether suppression of axonal degeneration (freque...
journal_title:Neuromolecular medicine
pub_type: 杂志文章
doi:10.1385/NMM:5:3:193
更新日期:2004-01-01 00:00:00