1
40
3
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1016/j.pediatrneurol.2014.07.032" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.pediatrneurol.2014.07.032</a>
Pages
717–720
Issue
5
Volume
51
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.
Publisher
An entity responsible for making the resource available
Pediatric neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2014
2014-11
Subject
The topic of the resource
congenital myasthenic syndrome; Congenital/*genetics/therapy; Continuous Positive Airway Pressure/methods; Humans; Infant; Male; Muscle Proteins/*genetics; Mutation/*genetics; Myasthenic Syndromes; next-generation sequencing; pyridostigmine; rapsyn
Creator
An entity primarily responsible for making the resource
Das Alvin S; Agamanolis Dimitri P; Cohen Bruce H
Description
An account of the resource
BACKGROUND: The clinical presentation of congenital myasthenic syndromes is similar to many other neuromuscular disorders of infancy, and with 12 known discrete genetic forms of congenital myasthenic syndromes, both the diagnosis and treatment decisions present clinical challenges. PATIENT DESCRIPTION: We report a
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.pediatrneurol.2014.07.032" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2014.07.032</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
2014
Agamanolis Dimitri P
Cohen Bruce H
congenital myasthenic syndrome
Congenital/*genetics/therapy
Continuous Positive Airway Pressure/methods
Das Alvin S
Humans
Infant
Male
Muscle Proteins/*genetics
Mutation/*genetics
Myasthenic Syndromes
next-generation sequencing
Pediatric neurology
pyridostigmine
rapsyn
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1007/s00702-007-0017-0" target="_blank" rel="noreferrer noopener">http://doi.org/10.1007/s00702-007-0017-0</a>
Pages
809–817
Issue
6
Volume
115
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Sex differences in striatal dopaminergic function within heterozygous mutant dopamine transporter knock-out mice.
Publisher
An entity responsible for making the resource available
Journal of neural transmission (Vienna, Austria : 1996)
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
2008-06
Subject
The topic of the resource
*Sex Characteristics; 3; 4-Dihydroxyphenylacetic Acid/metabolism; Animals; Brain/drug effects/*metabolism; Corpus Striatum/drug effects/*metabolism; Dopamine Plasma Membrane Transport Proteins/*genetics; Dopamine Uptake Inhibitors/pharmacology; Dopamine/*metabolism; Down-Regulation/drug effects/genetics; Female; Gene Expression Regulation/drug effects/genetics; Heterozygote; Knockout; Male; Methamphetamine/pharmacology; Mice; Mutation/*genetics; Neural Pathways/drug effects/metabolism; Potassium Chloride/metabolism/pharmacology; Substantia Nigra/drug effects/metabolism; Synaptic Transmission/drug effects/genetics; Up-Regulation/drug effects/genetics
Creator
An entity primarily responsible for making the resource
Ji Jing; Dluzen Dean E
Description
An account of the resource
The issue of whether a deletion of the dopamine transporter (DAT) allele (+/- DAT) would differentially alter striatal dopamine (DA) and dihydroxyphenylacetic acid (DOPAC) concentrations and DA release upon potassium and methamphetamine (MA) stimulation between male and female mice was examined. Striatal DA and DOPAC concentrations of female +/- DAT mice were significantly decreased as compared with wild type (+/+) controls and male +/- DAT mice. No such changes were obtained from the olfactory tubercle suggesting that these effects might be specific for the striatum. Potassium-stimulated DA was increased in male and female +/- DAT mice and maximally stimulated DA was obtained from +/- DAT females, although these mice showed the lowest DA concentrations. MA-evoked DA was increased in male and female +/- mice. While MA-evoked DA was significantly increased in +/+ males versus +/+ females, the +/- females showed the highest DA responses, thereby showing a reversal in the results seen in wild-type conditions. These findings indicate: (1) that a deficiency in the DAT interacts with the sex of the subject, (2)+/- DAT females show more extreme changes in dopaminergic responses, and (3) the importance for considering such variables such as sex when examining differences among knock-out conditions.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s00702-007-0017-0" target="_blank" rel="noreferrer noopener">10.1007/s00702-007-0017-0</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
*Sex Characteristics
2008
3
4-Dihydroxyphenylacetic Acid/metabolism
Animals
Brain/drug effects/*metabolism
Corpus Striatum/drug effects/*metabolism
Dluzen Dean E
Dopamine Plasma Membrane Transport Proteins/*genetics
Dopamine Uptake Inhibitors/pharmacology
Dopamine/*metabolism
Down-Regulation/drug effects/genetics
Female
Gene Expression Regulation/drug effects/genetics
Heterozygote
Ji Jing
Journal of neural transmission (Vienna, Austria : 1996)
Knockout
Male
Methamphetamine/pharmacology
Mice
Mutation/*genetics
Neural Pathways/drug effects/metabolism
Potassium Chloride/metabolism/pharmacology
Substantia Nigra/drug effects/metabolism
Synaptic Transmission/drug effects/genetics
Up-Regulation/drug effects/genetics
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1016/s0006-8993(01)02803-7" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/s0006-8993(01)02803-7</a>
Pages
1–10
Issue
1
Volume
915
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Aberrant induction of Par-4 is involved in apoptosis of hippocampal neurons in presenilin-1 M146V mutant knock-in mice.
Publisher
An entity responsible for making the resource available
Brain research
Date
A point or period of time associated with an event in the lifecycle of the resource
2001
2001-10
Subject
The topic of the resource
*Intracellular Signaling Peptides and Proteins; Alzheimer Disease/*genetics/metabolism/physiopathology; Animals; Apoptosis Regulatory Proteins; Apoptosis/*genetics; Carrier Proteins/*genetics/metabolism; Caspases/metabolism; Gene Expression Regulation/physiology; Glucose/deficiency; Hippocampus/*metabolism/physiopathology; Membrane Proteins/*genetics; Mice; Mitochondria/metabolism/pathology; Mutation/*genetics; Neurons/*metabolism/pathology; Presenilin-1; Signal Transduction/genetics; Transgenic/genetics/metabolism
Creator
An entity primarily responsible for making the resource
Xie J; Chang X; Zhang X; Guo Q
Description
An account of the resource
Mutations in presenilin-1 (PS-1) have been shown to increase neuronal vulnerability to apoptosis in Alzheimer's disease (AD). Par-4 is a novel cell-death-promoting protein associated with neuronal degeneration in AD. We previously reported that, in transfected PC12 cells, Par-4 seems to be involved in the neurodegenerative mechanisms of PS-1 mutations. However, direct evidence for a necessary role of Par-4 in the pathogenic mechanisms of PS-1 mutations in neurons is lacking. We recently generated and characterized presenilin-1 mutant M146V knock-in (PS-1 M146V KI) mice. We now report that expression of the mutant presenilin-1 in these mice induces early and exaggerated increase in Par-4 expression in hippocampal neurons following glucose deprivation (an insult relevant to the pathogenesis of AD). Importantly, inhibition of Par-4 expression by antisense par-4 oligonucleotide treatment counteracts neuronal apoptosis promoted by M146V mutation of PS-1. Mitochondrial dysfunction and caspase-3 activity induced by glucose deprivation was significantly exacerbated in hippocampal neurons expressing the mutant PS-1. Antisense par-4 treatment largely suppressed the adverse effect of the mutant PS-1 on mitochondrial dysfunction and caspase activation. These results provide evidence in hippocampal neurons that Par-4 is involved in the neurodegenerative cascades associated with PS-1 M146V mutation by acting relatively early in the apoptotic process before mitochondrial dysfunction and caspase-3 activation. Since levels of Par-4 are significantly increased in the hippocampus in human AD brain, the results of this study may provide a significant link between aberrant induction of Par-4 and the neurodegenerative cascades promoted by PS-1 mutations in AD.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/s0006-8993(01)02803-7" target="_blank" rel="noreferrer noopener">10.1016/s0006-8993(01)02803-7</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
*Intracellular Signaling Peptides and Proteins
2001
Alzheimer Disease/*genetics/metabolism/physiopathology
Animals
Apoptosis Regulatory Proteins
Apoptosis/*genetics
Brain research
Carrier Proteins/*genetics/metabolism
Caspases/metabolism
Chang X
Gene Expression Regulation/physiology
Glucose/deficiency
Guo Q
Hippocampus/*metabolism/physiopathology
Membrane Proteins/*genetics
Mice
Mitochondria/metabolism/pathology
Mutation/*genetics
Neurons/*metabolism/pathology
Presenilin-1
Signal Transduction/genetics
Transgenic/genetics/metabolism
Xie J
Zhang X