Abstract:
:Some cases of Alzheimer's disease are inherited as a dominant trait in humans. To date, mutations in three genes account for some of them: the amyloid precursor protein (APP) and presenilins 1 and 2 (PS-1 and PS-2, respectively). The function of the presenilins is still unclear, although they belong to a transmembrane protein-gene family, probably involved in some signaling pathway. We report here the isolation of the Drosophila presenilin homologue using the human PS-1 and PS-2 cDNAs as probes. Only one single gene has been detected in the Drosophila genome and evidence for alternatively spliced forms is presented and compared to the isoforms reported in humans. Temporal and spatial expression has been assessed by Northern blot and in situ hybridization on embryos of different developmental stages.
journal_name
J Neurogenetjournal_title
Journal of neurogeneticsauthors
Marfany G,Del-Favero J,Valero R,De Jonghe C,Woodrow S,Hendriks L,Van Broeckhoven C,Gonzàlez-Duarte Rdoi
10.3109/01677069809108554subject
Has Abstractpub_date
1998-01-01 00:00:00pages
41-54issue
1eissn
0167-7063issn
1563-5260journal_volume
12pub_type
杂志文章abstract::Chemosensory glomus cells of the carotid bodies release transmitters, including ATP and dopamine mainly via the exocytosis of small dense core granules (SDCGs, vesicular diameter of ∼100 nm). Using carbon-fiber amperometry, we showed previously that with a modest uniform elevation in cytosolic Ca2+ concentration ([Ca2...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2018.1497629
更新日期:2018-09-01 00:00:00
abstract::Cacna1f gene mutation could lead to incomplete congenital stationary night blindness (iCSNB) disease. The CSNB-like phenotype rat is a spontaneous rat model caused by Cacna1f gene mutation. The present study explored the phenotypic properties of behavior performance in CSNB rats further. The vision-related behaviors o...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2012.684416
更新日期:2012-09-01 00:00:00
abstract::Many declared aims of the genome projects have been achieved. The total genomic sequences of several relatively noncomplex/complex organisms (such as E. coli, yeast, Caenorhabditis, Drosophila) are being determined, and the nucleotide sequencing of the entire human genome will be complete in the near future. However, ...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.3109/01677060109167373
更新日期:2001-01-01 00:00:00
abstract::Learnt predictive behavior faces a dilemma: predictive stimuli will never 'replay' exactly as during the learning event, requiring generalization. In turn, minute differences can become meaningful, prompting discrimination. To provide a study case for an adaptive adjustment of this generalization-discrimination balanc...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2010.498066
更新日期:2010-09-01 00:00:00
abstract::Mutants displaying generalized behavioral defects and one mutant having an enzyme deficiency were examined for electroretinogram (ERG) defects. Mutations in nine genes were examined that cause ERG defects. Two, parats4 and slrpD, cause reversibly temperature dependent loss of the off-transients in the ERG. stnC and Ty...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677068909167263
更新日期:1989-01-01 00:00:00
abstract::Mutations at two fragile sites, FRAXA and FRAXE, loci are caused by an expansion of a CGG/GCC trinucleotide repeat and are characterized by mental retardation. Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRA...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/neg.17.2-3.223.230
更新日期:2003-04-01 00:00:00
abstract::Myoclonic status in nonprogressive encephalopathy (MSNE) is an early-onset, drug-resistant epileptic syndrome characterized by occurrence of continuous diffuse epileptiform abnormalities, associated with positive and/or negative phenomena and accompanied by transient and recurring motor, cognitive, and behavioral impa...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2015.1091452
更新日期:2015-01-01 00:00:00
abstract::From Sydney Brenner's backyard to hundreds of labs across the globe, inspiring six Nobel Prize winners along the way, Caenorhabditis elegans research has come far in the past half century. The journey is not over. The virtues of C. elegans research are numerous and have been recounted extensively. Here, we focus on th...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2020.1823386
更新日期:2020-09-01 00:00:00
abstract::A telomere is a repetitive DNA structure at chromosomal ends that stabilizes the chromosome structure and prevents harmful end-to-end recombinations. The telomere length of somatic cells becomes shorter with aging because of the "end replication problem." This telomere shortening is accelerated by pathophysiological c...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2011.651665
更新日期:2012-06-01 00:00:00
abstract::Based on unbeatable genetic accessibility and relative simplicity, the Drosophila larval neuromuscular junction has become a widely used model system for studying functional and structural aspects of excitatory glutamatergic synapses. Membrane-associated guanylate kinase-like proteins (MAGUKs) are first-order scaffold...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.3109/01677063.2010.493589
更新日期:2010-09-01 00:00:00
abstract::Inbred mice of the DBA/2J and C57BL/6J strains are known to differ in physiological and behavioral characteristics that are partially controlled by nuclei in the preoptic area/anterior hypothalamus. We describe a distinguishing nucleus of darkly staining, densely packed cells, which we term the medioventral pars compa...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677068509101424
更新日期:1985-12-01 00:00:00
abstract::Altered synaptic strength underlies information storage in neural circuits. Neuromodulatory transmitters such as norepinephrine (NE) facilitate long-lasting synaptic plasticity by recruiting and modifying multiple molecular elements of synaptic signaling, including specific transmitter receptors, intracellular protein...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.1080/01677063.2018.1497630
更新日期:2018-09-01 00:00:00
abstract::The shape of a neuron, its morphological signature, dictates the neuron's function by establishing its synaptic partnerships. Here, we review various anatomical methods used to reveal neuron shape and the contributions these have made to our current understanding of neural function in the Drosophila brain, especially ...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.1080/01677060802610604
更新日期:2009-01-01 00:00:00
abstract::The slo gene encodes the BK-type Ca(2+)-activated K(+) channels. In Drosophila, expression of slo is induced by organic solvent sedation (benzyl alcohol and ethanol), and this increase in neural slo expression contributes to the production of functional behavioral tolerance (inducible resistance) to these drugs. Withi...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2015.1050097
更新日期:2015-01-01 00:00:00
abstract::A slide taped to a window at the Woods Hole Marine Biology Laboratory was my first introduction to the touch receptor neurons of the nematode Caenorhabditis elegans. Studying these cells as a postdoc with Sydney Brenner gave me a chance to work with John Sulston on a fascinating set of neurons. I would never have gues...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2020.1833879
更新日期:2020-09-01 00:00:00
abstract::We have identified helmsman (hlm), which is expressed in the fruit fly photoreceptor cells during neural network development. Hlm is also expressed in the elongating cells of the embryonic trachea. Both photoreceptor neurons and embryonic trachea cells elongate in precise, targeted growth for cell-to-cell specific rec...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677060801893276
更新日期:2008-01-01 00:00:00
abstract::Caenorhabditis elegans has a simple nervous system of 302 neurons. It however senses environmental cues incredibly precisely and produces various behaviors by processing information in the neural circuit. In addition to classical genetic analysis, fluorescent proteins and calcium indicators enable in vivo monitoring o...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2020.1734001
更新日期:2020-09-01 00:00:00
abstract::The Drosophila receptor oscillation A (rosA) mutations, which cause electroretinogram (ERG) defects, including oscillations, were localized to the 24F4-25A2 region of chromosome 2L. Genomic fragments from this region, isolated from bacteriophage P1 clones, included those that detect transcriptional defects in rosA mut...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677069609107063
更新日期:1996-12-01 00:00:00
abstract::Neural tube defects (NTD) are a common birth defect, with both genetic and environmental contributions to their etiology. In mouse, null mutations in Noggin result in fully-penetrant NTDs. We investigated Noggin for mutations that may predispose to human NTDs in 202 NTD cases. One variant allele was identified in a ma...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract::Signaling from the postsynaptic compartment regulates multiple aspects of synaptic development and function. Syntaxin 4 (Syx4) is a plasma membrane t-SNARE that promotes the growth and plasticity of Drosophila neuromuscular junctions (NMJs) by regulating the localization of key synaptic proteins in the postsynaptic co...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2018.1501372
更新日期:2018-09-01 00:00:00
abstract::Autosomal recessive cerebellar ataxias are a group of clinically and genetically heterogeneous neurodegenerative disorders. Growing data have shown that there is difficulty with genetic counseling in a deeply consanguineous population because of the presence of genetic heterogeneity in patients sharing similar phenoty...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677060802025233
更新日期:2008-01-01 00:00:00
abstract::Abstract: This essay is dedicated to Obaid on the occasion of his 80th birthday. We both worked on the behavior of Drosophila and on what underlies behavior in the fly brain. Is that the fly's mind? The essay is about some limitations of brain science. It is just a little piece of writing. It is meant to honor Obaid f...
journal_title:Journal of neurogenetics
pub_type: 历史文章,杂志文章
doi:10.3109/01677063.2012.687796
更新日期:2012-09-01 00:00:00
abstract::Single-gene mutants of Drosophila have not only increased our understanding of the biochemical processes underlying learning and memory processes, but also established structure-function relationships. The first relevant mutants were identified by Martin Heisenberg nearly 30 years ago in a screen for altered adult bra...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.1080/01677060802471700
更新日期:2009-01-01 00:00:00
abstract::We used the hippocampal slice to examine extracellular electrophysiological responses to nicotine and the difference in sensitivity to nicotine-induced electrophysiological effects between the DBA and C3H mouse strains. Nicotine enhanced CA1 population spikes (PS) evoked by Schaffer collateral stimulation in a concent...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:
更新日期:1987-04-01 00:00:00
abstract::Messenger RNA editing of transcripts encoding voltage-sensitive ion channels has not been extensively analyzed--least of all in Drosophila, for which several channel-encoding genes are known. Previous sequence studies of D. melanogaster's cacophony gene, which encodes an alpha 1 calcium-channel subunit called Dmca1A, ...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677069809108560
更新日期:1998-11-01 00:00:00
abstract::The aim of this review is to summarize the history of Dr. Yoshiki Hotta and his collaborators' contributions to the research field of Drosophila phototransduction. The electroretinogram-defective mutants reported in 1970 by Dr. Hotta and Dr. Seymour Benzer in the article entitled "Genetic dissection of the Drosophila ...
journal_title:Journal of neurogenetics
pub_type: 传,历史文章,杂志文章
doi:10.3109/01677063.2011.647144
更新日期:2012-03-01 00:00:00
abstract::Courtship suppression is an associative conditioning procedure in Drosophila melanogaster that is ethologically based and capable of being tested on individual flies. We have expanded the range of the courtship conditioning by developing an excitatory procedure in which male flies learn to associate a novel odor with ...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::We have cloned the cDNA encoding human liver glycogen phosphorylase (glycogenosis type VI) from a fetal brain cDNA library. Liver(L) and muscle(M) phosphorylase cDNA probes were used to determine the relative abundance of mRNA encoding the L- and M-isozymes of phosphorylase in human fetal and adult tissues. The transc...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:
更新日期:1987-12-01 00:00:00
abstract::Diverse types of neurons must be specified in the developing brain to form the functional neural circuits that are necessary for the execution of daily tasks. Here, we describe the participation of Forkhead box class O (FOXO) in cell fate specification of a small subset of Drosophila ventral olfactory projection neuro...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2018.1556651
更新日期:2019-03-01 00:00:00
abstract::In the homozygous staggerer (sg/sg) mutant mouse, most of the Purkinje cells (the primary targets for olivocerebellar climbing fibers) are missing or ectopic. In this study, the organization and cell number of the inferior olivary complex in sg/sg were determined and compared to the inferior olive of the wildtype (+/+...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677068509100143
更新日期:1985-02-01 00:00:00