Abstract:
:A new autosomal recessive mutation, characterized by an early defect in righting reflex and stiffened gait, progression to severe spasticity, tremor and rigidity, and death before weaning, appeared spontaneously on the C57BL/6 background. It was shown to be an allele of the mutant spastic spa, and shall be known as spaAlb. Mutant levels of [3H]strychnine binding are less than 10% of control levels in the brainstem and spinal cord. Autoradiographic examination of the distribution of [3H]strychnine binding sites in the mutant confirm a greatly reduced level of binding compared to control in all areas of the spinal cord, brainstem, and midbrain.
journal_name
J Neurogenetjournal_title
Journal of neurogeneticsauthors
White WF,Regan LJ,Roe AW,Messer Asubject
Has Abstractpub_date
1987-08-01 00:00:00pages
253-8issue
5eissn
0167-7063issn
1563-5260journal_volume
4pub_type
杂志文章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::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::Sarcoglycanopathies (SGPs) constitute a subgroup of autosomal recessive limb girdle muscular dystrophies (LGMDs) which are caused by mutations in sarcoglycan (SGs) genes. SG proteins form a core complex consisting of α, β, γ and δ sarcoglycans which are encoded by SGCA, SGCB, SGCG and SGCD genes, respectively. Genetic...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2016.1141208
更新日期:2016-03-01 00:00:00
abstract::When individuals are exposed to stressful environmental challenges, the response varies widely in one or more of three components: psychology, behavior and physiology. This variability among individuals can be defined as temperament. In recent years, an increasing large body of evidence suggests that the dimensions of...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.1080/01677063.2017.1324857
更新日期:2017-01-01 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: Nuclear factor of activated T cells (NFAT) is a calcium-responsive transcription factor. We describe here an NFAT-based neural tracing method-CaLexA (calcium-dependent nuclear import of LexA)-for labeling active neurons in behaving animals. In this system, sustained neural activity induces nuclear import of ...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2011.642910
更新日期:2012-03-01 00:00:00
abstract::The cell-surface-signaling protein Notch, is required for numerous developmental processes and typically specifies which of two adjacent cells will adopt a non-neuronal developmental fate. It has recently been implicated in long-term memory formation in mammals and Drosophila. Here, we investigated whether activity-de...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677060902878481
更新日期:2009-01-01 00:00:00
abstract::This review outlines research into the cellular and molecular mechanisms underlying a simple behavior in the soil-dwelling nematode, C. elegans. A tap administered to the side of a petri plate acts as a nonlocalized mechanical stimulus to the worms within. Most adult worms respond to this tap stimulus with backward lo...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.1080/01677060802298509
更新日期:2008-01-01 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
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...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677069809108554
更新日期:1998-01-01 00:00:00
abstract::Intrahippocampal microinjections with anti-Met-enkephalin antiserum enhanced novelty-induced vertically oriented exploratory acts and horizontal locomotor activity in inbred mouse strain DBA/2 and reduced these behaviors in C57BL/6 so that strain differences originally present between the normal serum controls were el...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677068609106848
更新日期:1986-05-01 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::Kinase-mediated signaling cascades regulate a number of different molecular mechanisms involved in cellular homeostasis, and are viewed as one of the most common intracellular processes that are robustly dysregulated in the pathophysiology of mood disorders such as depression. Newly emerged, rapid acting antidepressan...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.1080/01677063.2016.1245303
更新日期:2016-01-01 00:00:00
abstract::The horizontal system and vertical system cells of the dipteran optic lobes are well understood regarding their physiology and role in visually guided behavior. Little is known, however, about their development. Drosophila optomotor-blind (omb) is required for the development of the HS/VS cells which are lacking in th...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2014.917645
更新日期:2014-09-01 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::Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2016.1238916
更新日期:2016-01-01 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::Predictions from the theory of transfection, Karl-Friedrich Fischbach's first paper, were confirmed 20 years later. Also a model, proposed already in 1977 by Karl-Friedrich and colleagues, to explain the nonmonotonous dependence on light intensity of phototaxis in Drosophila, finds support in recent studies of functio...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677063.2013.873430
更新日期:2014-09-01 00:00:00
abstract::This is the first of two reviews that include some of the studies that we, members of the Pak lab and collaborators, carried out from 1998 to 2010 on the functional and physical interactions among several Drosophila phototransduction components. The report includes our studies on the regulations and/or the functions o...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.3109/01677063.2011.650253
更新日期:2012-06-01 00:00:00
abstract::The bidirectional and positive relation between the ingestion of fat and alcohol has become the subject of extensive discussion. However, this relation is more studied in animal models of binge eating with intermittent access of high-fat diet or in a model of short period of this diet consumption. Here, we developed a...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2018.1526934
更新日期:2019-03-01 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 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 metabolism of leucine was studied in cultured human fibroblasts derived from patients with defects in each of the major steps in the catabolism of the amino acid. Intact fibroblasts were incubated with [U-14C]leucine and the organic acid products were isolated by liquid partition chromatography. In control fibrobl...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677068509101427
更新日期:1985-12-01 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::SPG3A/atlastin-1 gene mutations cause an autosomal dominant form of hereditary spastic paraplegia (SPG3A-HSP). We used positron emission tomography with [(11)C]DTBZ to assess nigrostriatal dopaminergic integrity in two unrelated adults with SPG3A-HSP due to the common SPG3A/atlastin-1 mutation, R239C. Nigrostriatal do...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677060802337307
更新日期:2008-01-01 00:00:00
abstract::To date, less than 10 pedigrees have been reported with ZNF335 mutations since it was discovered in 2012 and little is known about ZNF335-related clinical spectrum. We describe a 12 years old male patient who is only child of nonconsanguineous Turkish parents. Trio whole genome sequencing identified previously unrepor...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2020.1833006
更新日期:2020-11-20 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::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::Membrane fusion is essential for the communication of membrane-defined compartments, development of multicellular organisms and tissue homeostasis. Although membrane fusion has been studied extensively, still little is known about the molecular mechanisms. Especially the intercellular fusion of cells during developmen...
journal_title:Journal of neurogenetics
pub_type: 杂志文章,评审
doi:10.3109/01677063.2014.936014
更新日期:2014-09-01 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