当前位置： SCI文献检索 > JOURNAL OF NEUROCHEMISTRY期刊下所有文献 > A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

Abstract：

:Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition caused by dominant loss-of-function mutations of the tumor suppressor gene NF1 that encodes neurofibromin, a negative regulator of RAS activity. Mutation analysis of NF1 located at 17q11.2 has been hampered by the large size of the gene, the high rate of new mutations, the lack of mutational clustering, and the presence of several homologous loci. To date, about 80% of the reported NF1 mutations are predicted to result in protein truncation, but very few studies have correlated the causative NF1 mutation with its effect at the protein level. We evaluated a novel diagnostic method to detect truncated forms of neurofibromin in a large cohort of unrelated subjects suspected of having NF1, according to the NIH consensus criteria. Western blot analysis was carried out on protein extracts from patients' leukocytes to highlight the possible presence of altered neurofibromin as a result of mutations in NF1. Truncated neurofibromin was identified in 274/336 patients (81%), confirming the usefulness and reproducibility of the proposed diagnostic approach. Our methodology can be routinely applied in the diagnostic setting, thanks to its simplicity and reliability. Combined with molecular approaches, it may increase the accuracy and efficiency of NF1 genetic testing. We evaluated a novel diagnostic method to detect truncated forms of neurofibromin in patients fulfilling the clinical criteria for Neurofibromatosis 1. Western blot analysis identified truncated neurofibromin in 274/336 patients (81%). Our results indicate that the proposed technique is cheap and reliable, and could ideally be performed as a preliminary biochemical screening before molecular analysis of the NF1 gene.

journal_name

J Neurochem

journal_title

Journal of neurochemistry

authors

Esposito T,Piluso G,Saracino D,Uccello R,Schettino C,Dato C,Capaldo G,Giugliano T,Varriale B,Paolisso G,Di Iorio G,Melone MA

doi

10.1111/jnc.13396

subject

Has Abstract

pub_date

2015-12-01 00:00:00

pages

1123-8

issue

6

eissn

0022-3042

issn

1471-4159

journal_volume

135

pub_type

杂志文章

相关文献

JOURNAL OF NEUROCHEMISTRY文献大全
  • Exosomes in Parkinson disease.

    abstract：:Parkinson disease (PD) is a prevalent neurodegenerative disease, in which the formation of misfolded and aggregated α-synuclein is a key neuropathological hallmark. Recent studies reveal that extracellular vesicles such as exosomes present a potential mechanism for propagation of pathological α-synuclein throughout th...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章,评审

    doi：10.1111/jnc.15288

    authors： Pinnell JR,Cui M,Tieu K

    更新日期：2020-12-29 00:00:00

  • The astrocytic response to the dopaminergic denervation of the striatum.

    abstract：:Increasing evidence suggests that the dopaminergic degeneration which characterizes Parkinson's disease starts in the striatal dopamine terminals and progresses retrogradely to the body of dopamine cells in the substantia nigra. The role of striatal astrocytes in the striatal initiation of the dopaminergic degeneratio...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/jnc.13684

    authors： Morales I,Sanchez A,Rodriguez-Sabate C,Rodriguez M

    更新日期：2016-10-01 00:00:00

  • Altered hippocampal long-term synaptic plasticity in mice deficient in the PGE2 EP2 receptor.

    abstract：:Our laboratory demonstrated previously that PGE2-induced modulation of hippocampal synaptic transmission is via a pre-synaptic PGE2 EP2 receptor. However, little is known about whether the EP2 receptor is involved in hippocampal long-term synaptic plasticity and cognitive function. Here we show that long-term potentia...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.2008.05766.x

    authors： Yang H,Zhang J,Breyer RM,Chen C

    更新日期：2009-01-01 00:00:00

  • GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice.

    abstract：:The hph-1 mouse is characterized by low levels of GTP cyclohydrolase I (GTPCH) and tetrahydrobiopterin. A quantitative double-label in situ hybridization technique was used to examine CNS GTPCH mRNA expression within serotonin, dopamine, and norepinephrine neurons of male and female wild-type and hph-1 mice. In wild-t...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1046/j.1471-4159.1999.0720757.x

    authors： Shimoji M,Hirayama K,Hyland K,Kapatos G

    更新日期：1999-02-01 00:00:00

  • Allele-specific silencing of mutant Huntington's disease gene.

    abstract：:Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by a poly-glutamine expansion in huntingtin, the protein encoded by the HD gene. PolyQ-expanded huntingtin is toxic to neurons, especially the medium spiny neurons of the striatum. At the same time, wild-type huntingtin has important ...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.2008.05734.x

    authors： Zhang Y,Engelman J,Friedlander RM

    更新日期：2009-01-01 00:00:00

  • Glycine antagonists structurally related to 4,5,6,7-tetrahydroisoxazolo [5,4-c]pyridin-3-ol inhibit binding of [3H]strychnine to rat brain membranes.

    abstract：:[3H]Strychnine binding to rat pons + medulla membranes was used as a measure of glycine receptors or glycine receptor-coupled chloride channels in vitro. A series of compounds structurally related to 4,5,6,7-tetrahydroisoxazolo[5,4-c]pyridin-3-ol (THIP), which previously were shown to antagonize glycine responses in c...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1986.tb00667.x

    authors： Braestrup C,Nielsen M,Krogsgaard-Larsen P

    更新日期：1986-09-01 00:00:00

  • Functional coupling of the delta-, mu-, and kappa-opioid receptors to mitogen-activated protein kinase and arachidonate release in Chinese hamster ovary cells.

    abstract：:To examine whether the mitogen-activated protein kinase (MAPK) cascade and phospholipase A2 (PLA2) are involved in the signal transduction mechanism of the opioid receptor, the delta-, mu-, and kappa-opioid receptors were stably expressed from cDNA in Chinese hamster ovary cells. Activation of the delta-, mu-, and kap...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1046/j.1471-4159.1996.67031309.x

    authors： Fukuda K,Kato S,Morikawa H,Shoda T,Mori K

    更新日期：1996-09-01 00:00:00

  • A neutrophil elastase inhibitor (ONO-5046) reduces neurologic damage after spinal cord injury in rats.

    abstract：:In view of a cytoprotective effect of elastase inhibitor on chemokine-mediated tissue injury, we examined the neuroprotective effect of ONO-5046, a specific inhibitor of neutrophil elastase, in rats with spinal cord injury. Standardized spinal cord compression markedly increased cytokine-induced neutrophil chemo-attra...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1046/j.1471-4159.2001.00488.x

    authors： Tonai T,Shiba K,Taketani Y,Ohmoto Y,Murata K,Muraguchi M,Ohsaki H,Takeda E,Nishisho T

    更新日期：2001-09-01 00:00:00

  • Transcriptional activation of phosphodiesterase 7B1 by dopamine D1 receptor stimulation through the cyclic AMP/cyclic AMP-dependent protein kinase/cyclic AMP-response element binding protein pathway in primary striatal neurons.

    abstract：:Phosphodiesterase (PDE) 7B, a cAMP-specific PDE which is dominantly expressed in striatum, is expected to be involved in dopaminergic signaling in striatal neurons. Here we show, for the first time, the involvement of the dopaminergic signaling pathway in transcriptional activation of rat PDE7B in primary striatal cul...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.2004.02354.x

    authors： Sasaki T,Kotera J,Omori K

    更新日期：2004-04-01 00:00:00

  • Functional analysis and tissue-specific expression of Drosophila Na+,K+-ATPase subunits.

    abstract：:We have previously purified and characterized a nervous system-specific glycoprotein antigen from adult Drosophila heads, designated Nervana [nerve antigen (NRV)] and identified two separate genes coding for three different proteins. All three proteins share homology with the beta subunits of Na+,K+-ATPase from variou...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1046/j.1471-4159.1998.71010142.x

    authors： Sun B,Wang W,Salvaterra PM

    更新日期：1998-07-01 00:00:00

  • Glycosaminoglycan composition of PC12 pheochromocytoma cells: a comparison with PC12D cells, a new subline of PC12 cells.

    abstract：:PC12D cells, a new subline of conventional PC12 cells, respond not only to nerve growth factor but also to cyclic AMP by extending their neurites. These cells are flat in shape and are similar in appearance to PC12 cells that have been treated with nerve growth factor for a few days. In both cell lines, we have charac...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1989.tb02538.x

    authors： Katoh-Semba R,Oohira A,Sano M,Watanabe K,Kitajima S,Kashiwamata S

    更新日期：1989-03-01 00:00:00

  • Pro-thyrotropin-releasing hormone processing by recombinant PC1.

    abstract：:Pro-thyrotropin-releasing hormone (proTRH) is the precursor to thyrotropin-releasing hormone (TRH; pGlu-His-Pro-NH2), the hypothalamic releasing factor that stimulates synthesis and release of thyrotropin from the pituitary gland. Five copies of the TRH progenitor sequence (Gln-His-Pro-Gly) and seven cryptic peptides ...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1046/j.1471-4159.1995.65062462.x

    authors： Nillni EA,Friedman TC,Todd RB,Birch NP,Loh YP,Jackson IM

    更新日期：1995-12-01 00:00:00

  • Chronic copper exposure exacerbates both amyloid and tau pathology and selectively dysregulates cdk5 in a mouse model of AD.

    abstract：:Excess copper exposure is thought to be linked to the development of Alzheimer's disease (AD) neuropathology. However, the mechanism by which copper affects the CNS remains unclear. To investigate the effect of chronic copper exposure on both beta-amyloid and tau pathologies, we treated young triple transgenic (3xTg-A...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.2009.05901.x

    authors： Kitazawa M,Cheng D,Laferla FM

    更新日期：2009-03-01 00:00:00

  • Partial isolation of two classes of dopamine beta-hydroxylase-containing particles undergoing rapid axonal transport in rat sciatic nerve.

    abstract：:The rapid bidirectional transport of dopamine beta-hydroxylase (DBH) in adrenergic axons provides a means of analyzing the life cycle of adrenergic storage vesicles. We compared the physical characteristics of DBH-containing particles traveling to or returning from the terminal varicosities of ligated rat sciatic nerv...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1989.tb07379.x

    authors： Studelska DR,Brimijoin S

    更新日期：1989-08-01 00:00:00

  • Kurtosis imaging reveals microstructural changes of late-stage α-synuclein accumulation in a mouse model of Parkinson's disease.

    abstract：:This article is a critique of the paper by Khairnar et al. in the current issue of the Journal of Neurochemistry which describes the use of a sophisticated magnetic resonance imaging technique, diffusion kurtosis imaging, to investigate microstructural changes in the brain of TNWT-61 mice that are over-expressing α-sy...

    journal_title：Journal of neurochemistry

    pub_type： 社论

    doi：10.1111/jnc.13522

    authors： Williams S

    更新日期：2016-03-01 00:00:00

  • Campylobacter sialyltransferase gene polymorphism directs clinical features of Guillain-Barré syndrome.

    abstract：:Progress has been made in Guillain-Barré syndrome, a post-infectious autoimmune neuropathy, especially on identifying Campylobacter jejuni genes responsible for the development and determinant of clinical features. C. jejuni strains carrying a sialyltransferase gene (cst-II), which is essential for the biosynthesis of...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章,评审

    doi：10.1111/j.1471-4159.2007.04707.x

    authors： Yuki N

    更新日期：2007-11-01 00:00:00

  • Fyn kinase regulates the association between amyloid precursor protein and Dab1 by promoting their localization to detergent-resistant membranes.

    abstract：:The adaptor protein Disabled1 (Dab1) interacts with amyloid precursor protein (APP) and decreases its pathological processing, an effect mediated by Fyn tyrosine kinase. Fyn is highly enriched in lipid rafts, a major site of pathological APP processing. To investigate the role of Fyn in the localization and phosphoryl...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.2011.07296.x

    authors： Minami SS,Hoe HS,Rebeck GW

    更新日期：2011-09-01 00:00:00

  • A negative regulatory element in the rat dopamine beta-hydroxylase gene contributes to the cell type specificity of expression.

    abstract：:Dopamine beta-hydroxylase (DBH) catalyzes the synthesis of the neurohormone norepinephrine and is expressed only in noradrenergic and adrenergic cells of the nervous and endocrine systems. We have previously described a positive-acting genetic regulatory element of the DBH that contributes to the restricted expression...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1046/j.1471-4159.1995.64010052.x

    authors： Shaskus J,Zellmer E,Lewis EJ

    更新日期：1995-01-01 00:00:00

  • Modulation of [3H]muscimol binding in rat cerebellar and cerebral cortical membranes by picrotoxin, pentobarbitone, and etomidate.

    abstract：:Modulation of [3H]muscimol binding by picrotoxin, pentobarbitone, and etomidate was investigated in rat cerebellar and cerebral cortical membranes. In cerebellum, at 37 degrees C in the presence of chloride ions (150 mM), picrotoxin and picrotoxinin decreased specific [3H]muscimol binding to 43 +/- 3% of control, with...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1983.tb04758.x

    authors： Quast U,Brenner O

    更新日期：1983-08-01 00:00:00

  • Content of quinolinic acid and of other tryptophan metabolites increases in brain regions of rats used as experimental models of hepatic encephalopathy.

    abstract：:The content of the tryptophan metabolites quinolinic acid (QUIN), 5-hydroxytryptamine (5-HT), and 5-hydroxyindoleacetic acid (5-HIAA) was measured in various brain areas of rats bearing a portocaval anastomosis (PCA) for 4 weeks, using mass fragmentography or HPLC. In these animals, the content of the excitotoxic comp...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1986.tb13052.x

    authors： Moroni F,Lombardi G,Carlà V,Pellegrini D,Carassale GL,Cortesini C

    更新日期：1986-03-01 00:00:00

  • Developmental regulation of beta-thymosins in the rat central nervous system.

    abstract：:HPLC analysis of guanidinium hydrochloride extracts of neonatal and adult rat brain revealed a polypeptide that is present in high concentration in the immature nervous system, but whose levels decline dramatically in the adult. This polypeptide has been isolated and its complete amino acid sequence determined by gas-...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1991.tb08172.x

    authors： Lugo DI,Chen SC,Hall AK,Ziai R,Hempstead JL,Morgan JI

    更新日期：1991-02-01 00:00:00

  • Expression of the choline acetyltransferase gene depends on protein kinase A activity.

    abstract：:Choline acetyltransferase activity is barely detectable in a mutant pheochromocytoma PC12 cell line, A123.7, which is deficient in protein kinase A activity. Northern blot and polymerase chain reaction analyses showed that this mutant cell line has dramatically reduced levels of choline acetyltransferase mRNA, which c...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1046/j.1471-4159.1995.64030985.x

    authors： Inoue H,Li YP,Wagner JA,Hersh LB

    更新日期：1995-03-01 00:00:00

  • Subdivision of mouse brain [3H]imipramine binding based on ion dependence and serotonin sensitivity.

    abstract：:The specific binding of [3H]imipramine to mouse brain membranes in an assay containing 120 mM NaCl and 5 mM KCl was similar in regional distribution and pharmacological specificity to that reported previously in rat and human brain. However, the absence of ions decreased the density of the specific binding of [3H]imip...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1986.tb08492.x

    authors： Severson JA,Woodward JJ,Wilcox RE

    更新日期：1986-06-01 00:00:00

  • Studies on subcellular fractions which are involved in myelin assembly: labeling of myelin proteins by a double radioisotope approach indicates developmental relationships.

    abstract：:The question of developmental relationships amongst myelin-related membranes in subfractions of myelinating mouse brain (15 days) was investigated by a time-staggered double isotope protocol using [3H]leucine and [14C]leucine. Preliminary results are interpreted and discussed in the context of a mathematical conceptua...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1983.tb09041.x

    authors： Pereyra PM,Braun PE,Greenfield S,Hogan EL

    更新日期：1983-10-01 00:00:00

  • Ammonium influx pathways into astrocytes and neurones of hippocampal slices.

    abstract：:Ammonium (NH(4) (+) ) is required to maintain pathways involved in shuttling metabolic precursors between astrocytes and neurones. Under hyperammonaemic conditions, increases in the cellular influx of NH(4) (+) , and accompanying changes in ion concentrations, may contribute to disruptions in metabolism and neurotrans...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.2010.07009.x

    authors： Kelly T,Rose CR

    更新日期：2010-12-01 00:00:00

  • Oxidative stress activates protein tyrosine kinase and matrix metalloproteinases leading to blood-brain barrier dysfunction.

    abstract：:The blood-brain barrier (BBB) formed by brain microvascular endothelial cells (BMVEC) regulates the passage of molecules and leukocytes in and out of the brain. Oxidative stress is a major underlying cause of neurodegenerative and neuroinflammatory disorders and BBB injury associated with them. Using human BMVEC grown...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.2006.04393.x

    authors： Haorah J,Ramirez SH,Schall K,Smith D,Pandya R,Persidsky Y

    更新日期：2007-04-01 00:00:00

  • Global SUMOylation facilitates the multimodal neuroprotection afforded by quercetin against the deleterious effects of oxygen/glucose deprivation and the restoration of oxygen/glucose.

    abstract：:The putative neuroprotective properties of various flavonoids have long been reported. Among this class of chemicals, quercetin, a major flavone/flavonol naturally occurring in plants, deserves focused attention because of the myriad of beneficial effects observed in various in vitro and in vivo models of central nerv...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/jnc.13643

    authors： Lee YJ,Bernstock JD,Nagaraja N,Ko B,Hallenbeck JM

    更新日期：2016-07-01 00:00:00

  • Dialysis delivery of an adenosine A2A agonist into the pontine reticular formation of C57BL/6J mouse increases pontine acetylcholine release and sleep.

    abstract：:In vivo microdialysis in C57BL/6J (B6) mouse was used to test the hypothesis that activating adenosine A(2A) receptors in the pontine reticular formation (PRF) increases acetylcholine (ACh) release and rapid eye movement (REM) sleep. Eight concentrations of the adenosine A(2A) receptor agonist 2-p-(2-carboxyethyl)phen...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.2006.03700.x

    authors： Coleman CG,Baghdoyan HA,Lydic R

    更新日期：2006-03-01 00:00:00

  • Dose-dependent, K+-stimulated efflux of endogenous taurine from primary astrocyte cultures is Ca2+-dependent.

    abstract：:The K+-stimulated efflux of endogenous taurine from primary rat cerebellar astrocyte cultures prepared from 7-9-day-old rats was studied at 16-18 days in vitro using HPLC analysis. Taurine efflux was dose-dependent at K+ concentrations between 10 mM and 80 mM, with an EC50 of approximately 50 mM. Maximum stimulation o...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1988.tb04844.x

    authors： Philibert RA,Rogers KL,Allen AJ,Dutton GR

    更新日期：1988-07-01 00:00:00

  • Reduction in glial fibrillary acidic protein mRNA abundance induced by (-)-deprenyl and other monoamine oxidase B inhibitors in C6 glioma cells.

    abstract：:Gliosis is commonly observed in the CNS following tissue damage, and it also occurs in aging and in many neurodegenerative diseases. Glial fibrillary acidic protein (GFAP) accumulation is a prominent feature of astrocytic gliosis. An inhibition or delay in GFAP synthesis could mitigate scar formation and thus reduce t...

    journal_title：Journal of neurochemistry

    pub_type： 杂志文章

    doi：10.1111/j.1471-4159.1993.tb13660.x

    authors： Li XM,Qi J,Juorio AV,Boulton AA

    更新日期：1993-10-01 00:00:00