Metabolism of leucine in fibroblasts from patients with deficiencies in each of the major catabolic enzymes: branched-chain ketoacid dehydrogenase, isovaleryl-CoA dehydrogenase, 3-methylcrotonyl-CoA carboxylase, 3-methylglutaconyl-CoA hydratase, and 3-hyd

abstract：:otal (ota=olfactory trap abnormal), an X-linked mutation of Drosophila isolated by virtue of abnormal olfactory behavior, is shown to be an allele of rdgB (retinal degeneration B), a gene required for normal visual system physiology. rdgB function is shown to be necessary for olfactory response of both adult files and...

journal_title：Journal of neurogenetics

authors： Woodard C,Alcorta E,Carlson J

更新日期：2007-10-01 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

authors： Lukacsovich T,Yamamoto D

更新日期：2001-01-01 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

authors： Caglayan AO,Yaghouti K,Kockaya T,Kemer D,Cankaya T,Ameziane N,Cogulu O,Coker M,Yalcinkaya C

更新日期：2020-11-20 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

authors： Takeishi A,Takagaki N,Kuhara A

更新日期：2020-09-01 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

authors： Mojbafan M,Nilipour Y,Tonekaboni SH,Bagheri SD,Bagherian H,Sharifi Z,Zeinali Z,Tavakkoly-Bazzaz J,Zeinali S

更新日期：2016-03-01 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

authors： Leung HT,Shino S,Kim E

更新日期：2012-06-01 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

authors： Spatz HC

更新日期：2014-09-01 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

authors： de Bivort BL,Guo HF,Zhong Y

更新日期：2009-01-01 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

authors： van Abeelen JH,Gerads HJ

更新日期：1986-05-01 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

authors： Blatt GJ,Eisenman LM

更新日期：1985-02-01 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

authors： Bauer KA,George TM,Enterline DS,Stottmann RW,Melvin EC,Siegel D,Samal S,Hauser MA,Klingensmith J,Nye JS,Speer MC,Neural Tube Defects Collaborative Group.

更新日期：2002-01-01 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

authors： Albin RL,Koeppe RA,Rainier S,Fink JK

更新日期：2008-01-01 00:00:00

abstract：:A search for the defective gene causing torsion dystonia has been carried out in a family manifesting an autosomal dominant mode of inheritance of this movement disorder. Complete neurologic examination and establishment of lymphoblast lines have been carried out for over 50 members. Linkage analysis, using cloned DNA...

journal_title：Journal of neurogenetics

authors： Breakefield XO,Bressman SB,Kramer PL,Ozelius L,Moskowitz C,Tanzi R,Brin MF,Hobbs W,Kaufman D,Tobin A

更新日期：1986-05-01 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

authors： Heisenberg M

更新日期：2012-09-01 00:00:00

abstract：:Newly eclosed Drosophila melanogaster flies were systemically depleted of dopamine by feeding an inhibitor of the biosynthetic enzyme, tyrosine hydroxylase, and analyzed for abnormalities in courtship behavior. Dopamine-depleted females were significantly less receptive to males than were control females, although mal...

journal_title：Journal of neurogenetics

authors： Neckameyer WS

更新日期：1998-03-01 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

authors： Gorin FA,Mullinax RL,Ignacio PC,Neve RL,Kurnit DM

更新日期：1987-12-01 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

authors： Bouhlal Y,Zouari M,Kefi M,Ben Hamida C,Hentati F,Amouri R

更新日期：2008-01-01 00:00:00

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

authors： Tse A,Lee AK,Takahashi N,Gong A,Kasai H,Tse FW

更新日期：2018-09-01 00:00:00

abstract：:The serotonin transporter is an important regulator of serotonergic signaling. In order to analyze where the Drosophila melanogaster ortholog of the mammalian serotonin transporter (dSERT) is expressed in the nervous system, a dSERT antibody serum was used. Ectopic expression studies and loss of function analysis reve...

journal_title：Journal of neurogenetics

authors： Giang T,Ritze Y,Rauchfuss S,Ogueta M,Scholz H

更新日期：2011-03-01 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

authors： Meinertzhagen IA,Takemura SY,Lu Z,Huang S,Gao S,Ting CY,Lee CH

更新日期：2009-01-01 00:00:00

abstract：:One of the most fascinating questions in evolutionary biology is how traits unique to humans, such as their high cognitive abilities, erect bipedalism, and hairless skin, are encoded in the genome. Recent advances in genomics have begun to reveal differences between the genomes of the great apes. It has become evident...

journal_title：Journal of neurogenetics

authors： Sassa T

更新日期：2013-09-01 00:00:00

abstract：:This report contains additional observations on the cell lineage relationships of the motor neurons of the facial nucleus and of the cerebellar Purkinje cells of the mouse. These cell populations were quantitatively analyzed in the mosaic brains of experimental aggregation chimeras. The cell markers used to perform th...

journal_title：Journal of neurogenetics

authors： Herrup K,Wetts R,Diglio TJ

更新日期：1984-12-01 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

authors： Robinson SM,Fox TO,Sidman RL

更新日期：1985-12-01 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

authors： Ardiel EL,Rankin CH

更新日期：2008-01-01 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

authors： Sen A,Grimm S,Hofmeyer K,Pflugfelder GO

更新日期：2014-09-01 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

authors： Yuan LL,Wauson E,Duric V

更新日期：2016-01-01 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

authors： Marfany G,Del-Favero J,Valero R,De Jonghe C,Woodrow S,Hendriks L,Van Broeckhoven C,Gonzàlez-Duarte R

更新日期：1998-01-01 00:00:00

abstract：:Most insertional mutagenesis screens of Drosophila performed to date have not used target chromosomes that have been checked for their suitability for phenotypic screens for viable phenotypes. To address this, we have generated a selection of stocks carrying either isogenized second chromosomes or isogenized third chr...

journal_title：Journal of neurogenetics

authors： Sharma P,Asztalos Z,Ayyub C,de Bruyne M,Dornan AJ,Gomez-Hernandez A,Keane J,Killeen J,Kramer S,Madhavan M,Roe H,Sherkhane PD,Siddiqi K,Silva E,Carlson JR,Goodwin SF,Heisenberg M,Krishnan K,Kyriacou CP,Partridge L,

更新日期：2005-04-01 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

authors： Iliff AJ,Xu XZS

更新日期：2020-09-01 00:00:00

abstract：:Multiple Sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system (CNS) resulting in accumulating neurological disability. The disorder is more prevalent at higher latitudes. To investigate VDR gene variation using three intragenic restriction fragment length polymorphisms (Apa I, T...

journal_title：Journal of neurogenetics

authors： Tajouri L,Ovcaric M,Curtain R,Johnson MP,Griffiths LR,Csurhes P,Pender MP,Lea RA

更新日期：2005-01-01 00:00:00