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https://www.readbyqxmd.com/read/29759045/neuropathological-developments-in-sudden-infant-death-syndrome
#1
Fiona M Bright, Robert Vink, Roger W Byard
A wide variety of neuropathological abnormalities have been investigated in infants who have died of sudden infant death syndrome (SIDS). Issues which detracted from early studies included failure to use uniform definitions of SIDS and lack of appropriately matched control populations. Development of the triple risk model focused attention on the concept of an inherent susceptibility to unexpected death in certain infants, with research demonstrating a role for the neurotransmitter serotonin within the brainstem...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29748850/from-aggression-to-autism-new-perspectives-on-the-behavioral-sequelae-of-monoamine-oxidase-deficiency
#2
REVIEW
Marco Bortolato, Gabriele Floris, Jean C Shih
The two monoamine oxidase (MAO) enzymes, A and B, catalyze the metabolism of monoamine neurotransmitters, such as serotonin, norepinephrine, and dopamine. The phenotypic outcomes of MAO congenital deficiency have been studied in humans and animal models, to explore the role of these enzymes in behavioral regulation. The clinical condition caused by MAOA deficiency, Brunner syndrome, was first described as a disorder characterized by overt antisocial and aggressive conduct. Building on this discovery, subsequent studies were focused on the characterization of the role of MAOA in the neurobiology of antisocial conduct...
May 10, 2018: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29747438/novel-substituted-heterocyclic-gaba-analogues-enzymatic-activity-against-the-gaba-at-enzyme-from-pseudomonas-fluorescens-and-in-silico-molecular-modeling
#3
Erika Tovar-Gudiño, Juan Alberto Guevara-Salazar, José Raúl Bahena-Herrera, José Guadalupe Trujillo-Ferrara, Zuleyma Martínez-Campos, Rodrigo Said Razo-Hernández, Ángel Santiago, Nina Pastor, Mario Fernández-Zertuche
γ-Aminobutyric acid (GABA) is the most important inhibitory neurotransmitter in the central nervous system, and a deficiency of GABA is associated with serious neurological disorders. Due to its low lipophilicity, there has been an intensive search for new molecules with increased lipophilicity to cross the blood-brain barrier to raise GABA concentrations. We have designed and evaluated in vitro and in silico some new analogues of GABA, where the nitrogen atom at the γ-position is embedded in heterocyclic scaffolds and determined their inhibitory potential over the GABA-AT enzyme from Pseudomonas fluorescens ...
May 9, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29745050/aquaporin-4-knockout-mice-exhibit-increased-hypnotic-susceptibility-to-ketamine
#4
Yunluo Lv, Wangshu Dai, Ai Ge, Yi Fan, Gang Hu, Yinming Zeng
PURPOSE: This study examines anesthetic/hypnotic effects of ketamine in AQP4 knockout (KO) and wild-type (WT) mice with the particular focus on neurotransmission. MATERIALS AND METHODS: Ketamine (100 mg/kg) was intraperitoneally injected in 16 WT and 16 KO mice. The hypnotic potencies were evaluated by the loss of the righting reflex (LORR). The amino acids neurotransmitter levels in prefrontal cortex were measured by microdialysis. RESULTS: This study demonstrated that AQP4 knockout significantly shortened the latency compared with WT mice (98...
May 9, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29736076/a-study-on-association-of-iron-deficiency-with-attention-deficit-hyperactivity-disorder-in-a-tertiary-care-center
#5
Kamirul Islam, Soutrik Seth, Suman Saha, Atanu Roy, Rajib Das, Asok Kumar Datta
Background: Iron is important for brain development and cognitive function. Iron deficiency may cause alteration of neurotransmitters and may be manifested by different central nervous system disorders including attention deficit hyperactivity disorder (ADHD). Aims: As studies are scarce in the Indian context, we had undertaken this study to find out the association between iron deficiency and ADHD. Settings and Design: Hospital-based cross-sectional study...
January 2018: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/29722304/synaptic-dysfunction-in-alzheimer-s-disease-the-effects-of-amyloid-beta-on-synaptic-vesicle-dynamics-as-a-novel-target-for-therapeutic-intervention
#6
REVIEW
Jade Marsh, Pavlos Alifragis
The most prevalent form of dementia in the elderly is Alzheimer's disease. A significant contributing factor to the progression of the disease appears to be the progressive accumulation of amyloid-β42 (Aβ42), a small hydrophobic peptide. Unfortunately, attempts to develop therapies targeting the accumulation of Aβ42 have not been successful to treat or even slow down the disease. It is possible that this failure is an indication that targeting downstream effects rather than the accumulation of the peptide itself might be a more effective approach...
April 2018: Neural Regeneration Research
https://www.readbyqxmd.com/read/29687627/anhedonia-in-depression-and-schizophrenia-a-transdiagnostic-challenge
#7
Clare Lambert, Susana Da Silva, Amanda K Ceniti, Sakina J Rizvi, George Foussias, Sidney H Kennedy
BACKGROUND: Anhedonia, as a dysregulation of the reward circuit, is present in both Major Depressive Disorder (MDD) and schizophrenia (SZ). AIMS: To elucidate the clinical and neurobiological differences between schizophrenia (SZ) and depression (MDD) in regard to anhedonia, while reconciling the challenges and benefits of assessing anhedonia as a transdiagnostic feature under the Research Domain Criteria (RDoC) framework. METHODS: In this review, we summarize data from publications examining anhedonia or its underlying reward deficits in SZ and MDD...
April 23, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29685341/mutational-spectrum-of-pts-gene-and-in-silico-pathological-assessment-of-a-novel-variant-in-mexico
#8
Cynthia Fernández-Lainez, Isabel Ibarra-González, Miguel Ángel Alcántara-Ortigoza, Liliana Fernández-Hernández, Sergio Enríquez-Flores, Ariadna González-Del Ángel, Nenad Blau, Beat Thöny, Sara Guillén-López, Leticia Belmont-Martínez, Matilde Ruiz-García, Marcela Vela-Amieva
BACKGROUND: Tetrahydrobiopterin (BH4) is the cofactor for 6-pyruvoyl-tetrahydropterin synthase (PTPS); it is involved in BH4 biosynthesis and is encoded by PTS gene. Its deficiency (PTPSD) is characterized by hyperphenylalaninemia (HPA) and deficit in central monoamine neurotransmitters. We describe the clinical and mutational spectrum of five patients with PTPSD, from four unrelated Mexican families. All patients had symptomatic diagnosis and presented severe early neurological manifestations and HPA...
April 20, 2018: Brain & Development
https://www.readbyqxmd.com/read/29629512/-l-theanine-decreases-orofacial-dyskinesia-induced-by-reserpine-in-rats
#9
Hung-Sheng Soung, Mao-Hsien Wang, Kuo-Chi Chang, Cheng-Neng Chen, Yi Chang, Chih-Chuan Yang, Hsiang-Chien Tseng
Reserpine (RES)-induced orofacial dyskinesia (OD) has been used as an animal model for human tardive dyskinesia (TD) for decades, due to its strong pathophysiological association with striatal oxidative stress and neural cytoarchitecture alteration. L -Theanine (LT), one of the major amino acid components in green tea, has potent antioxidative, anti-inflammatory, and neuroprotective effects. In this study, we examined the potential protective effects of LT on RES-induced behavioral and neurochemical dysfunction in rats...
April 9, 2018: Neurotoxicity Research
https://www.readbyqxmd.com/read/29621152/taurine-administration-recovers-motor-and-learning-deficits-in-an-angelman-syndrome-mouse-model
#10
Sara Guzzetti, Luciano Calzari, Lucia Buccarello, Valentina Cesari, Ivan Toschi, Stefania Cattaldo, Alessandro Mauro, Francesca Pregnolato, Silvia Michela Mazzola, Silvia Russo
Angelman syndrome (AS, MIM 105830) is a rare neurodevelopmental disorder affecting 1:10-20,000 children. Patients show moderate to severe intellectual disability, ataxia and absence of speech. Studies on both post-mortem AS human brains and mouse models revealed dysfunctions in the extra synaptic gamma-aminobutyric acid (GABA) receptors implicated in the pathogenesis. Taurine is a free intracellular sulfur-containing amino acid, abundant in brain, considered an inhibiting neurotransmitter with neuroprotective properties...
April 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29600656/-characterization-and-pathophysiological-changes-of-cerebral-infarction-rat-model-with-qi-deficiency-and-blood-stasis-syndrome
#11
Ying Li, Lei-Sha Wang, Jian-Xun Liu, Wen-Ting Song, Li Xu, Hong-Hai Li, Jun-Mei Li, Bin Yang, Xiao-Xia Dong, Guang-Rui Wang, Ming-Jiang Yao, Cheng-Ren Lin
This study aimed to observe the general state and changes in pathophysiological indexes of multiple cerebral infarction rat model with Qi-deficienty and Blood-stasis syndrome. Rats were randomly divided into 4 groups(with 30 in each group): the normal group, the sham group, the model group and the Yiqi Huoxue recipe group. Rats in the model group and Yiqi Huoxue group were provided with interruptable sleep deprivation for 7 days before the multiple cerebral infarction operation, and followed by another 4 weeks of sleep deprivation; rats in the Yiqi Huoxue group were intragastrically administrated with drug at a dose of 26 g·kg⁻¹, once a day for 4 weeks...
February 2018: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29590610/a-transcriptomic-signature-of-the-hypothalamic-response-to-fasting-and-bdnf-deficiency-in-prader-willi-syndrome
#12
Elena G Bochukova, Katherine Lawler, Sophie Croizier, Julia M Keogh, Nisha Patel, Garth Strohbehn, Kitty K Lo, Jack Humphrey, Anita Hokken-Koelega, Layla Damen, Stephany Donze, Sebastien G Bouret, Vincent Plagnol, I Sadaf Farooqi
Transcriptional analysis of brain tissue from people with molecularly defined causes of obesity may highlight disease mechanisms and therapeutic targets. We performed RNA sequencing of hypothalamus from individuals with Prader-Willi syndrome (PWS), a genetic obesity syndrome characterized by severe hyperphagia. We found that upregulated genes overlap with the transcriptome of mouse Agrp neurons that signal hunger, while downregulated genes overlap with the expression profile of Pomc neurons activated by feeding...
March 27, 2018: Cell Reports
https://www.readbyqxmd.com/read/29577258/gamma-aminobutyric-acid-levels-in-cerebrospinal-fluid-in-neuropaediatric-disorders
#13
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Daniel Cuadras, Mercedes Casado, Judith Armstrong-Morón, Dèlia Yubero, Julio Montoya, Rafael Artuch, Àngels García-Cazorla
AIM: Gamma-aminobutyric acid (GABA) is a major modulator in brain maturation and its role in many different neurodevelopmental disorders has been widely reported. Although the involvement of GABA in different disorders has been related to its regulatory function as an inhibitory neurotransmitter in the mature brain, co-transmitter, and signalling molecule, little is known about its role as a clinical biomarker in neuropaediatric disorders. The aim of this study is to report the cerebrospinal fluid (CSF) free-GABA concentrations in a large cohort of patients (n=85) with different neurological disorders...
March 25, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29560549/role-of-gaba-in-the-regulation-of-the-central-circadian-clock-of-the-suprachiasmatic-nucleus
#14
REVIEW
Daisuke Ono, Ken-Ichi Honma, Yuchio Yanagawa, Akihiro Yamanaka, Sato Honma
In mammals, circadian rhythms, such as sleep/wake cycles, are regulated by the central circadian clock located in the suprachiasmatic nucleus (SCN) of the hypothalamus. The SCN consists of thousands of individual neurons, which exhibit circadian rhythms. They synchronize with each other and produce robust and stable oscillations. Although several neurotransmitters are expressed in the SCN, almost all SCN neurons are γ-amino butyric acid (GABA)-ergic. Several studies have attempted to understand the roles of GABA in the SCN; however, precise mechanisms of the action of GABA in the SCN are still unclear...
March 20, 2018: Journal of Physiological Sciences: JPS
https://www.readbyqxmd.com/read/29548989/snap-25a-and-snap-25b-differently-mediate-interactions-with-munc18-1-and-g%C3%AE-%C3%AE-subunits
#15
Teresa Daraio, Ismael Valladolid-Acebes, Kerstin Brismar, Christina Bark
SNAP-25 is a protein involved in regulated membrane fusion and part of the SNARE complex. It exists as two splicing variants, SNAP-25a and SNAP-25b, which differ in 9 out of 206 amino acids. SNAP-25 together with Syntaxin 1 and VAMP-2 forms the ternary SNARE complex essential for mediating activity-dependent release of hormones and neurotransmitters. The functional difference between SNAP-25a and SNAP-25b is poorly understood as both can participate in SNARE complexes and mediate membrane fusion. However, we recently demonstrated that SNAP-25b-deficiency results in metabolic disease and increased insulin secretion...
May 1, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29520738/tetrahydrobiopterin-treatment-reduces-brain-l-phe-but-only-partially-improves-serotonin-in-hyperphenylalaninemic-enu1-2-mice
#16
Tanja Scherer, Gabriella Allegri, Christineh N Sarkissian, Ming Ying, Hiu Man Grisch-Chan, Anahita Rassi, Shelley R Winn, Cary O Harding, Aurora Martinez, Beat Thöny
Hyperphenylalaninemia (HPA) caused by hepatic phenylalanine hydroxylase (PAH) deficiency has severe consequences on brain monoamine neurotransmitter metabolism. We have studied monoamine neurotransmitter status and the effect of tetrahydrobiopterin (BH4 ) treatment in Pah enu1/enu2 (ENU1/2) mice, a model of partial PAH deficiency. These mice exhibit elevated blood L-phenylalanine (L-Phe) concentrations similar to that of mild hyperphenylalaninemia (HPA), but brain levels of L-Phe are still ~5-fold elevated compared to wild-type...
March 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29515354/mechanisms-of-%C3%AE-synuclein-induced-synaptopathy-in-parkinson-s-disease
#17
REVIEW
Jessika C Bridi, Frank Hirth
Parkinson's disease (PD) is characterized by intracellular inclusions of aggregated and misfolded α-Synuclein (α-Syn), and the loss of dopaminergic (DA) neurons in the brain. The resulting motor abnormalities mark the progression of PD, while non-motor symptoms can already be identified during early, prodromal stages of disease. Recent studies provide evidence that during this early prodromal phase, synaptic and axonal abnormalities occur before the degenerative loss of neuronal cell bodies. These early phenotypes can be attributed to synaptic accumulation of toxic α-Syn...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29509880/acetylcholine-modulates-the-hormones-of-the-growth-hormone-insulinlike-growth-factor-1-axis-during-development-in-mice
#18
Marie-José Lecomte, Chloé Bertolus, Nélina Ramanantsoa, Françoise Saurini, Jacques Callebert, Catherine Sénamaud-Beaufort, Maud Ringot, Thomas Bourgeois, Boris Matrot, Corinne Collet, Jeannette Nardelli, Jacques Mallet, Guilan Vodjdani, Jorge Gallego, Jean-Marie Launay, Sylvie Berrard
Pituitary growth hormone (GH) and insulinlike growth factor (IGF)-1 are anabolic hormones whose physiological roles are particularly important during development. The activity of the GH/IGF-1 axis is controlled by complex neuroendocrine systems including two hypothalamic neuropeptides, GH-releasing hormone (GHRH) and somatostatin (SRIF), and a gastrointestinal hormone, ghrelin. The neurotransmitter acetylcholine (ACh) is involved in tuning GH secretion, and its GH-stimulatory action has mainly been shown in adults but is not clearly documented during development...
April 1, 2018: Endocrinology
https://www.readbyqxmd.com/read/29506600/secondary-abnormal-csf-neurotransmitter-metabolite-profiles-in-a-pediatric-tertiary-care-centre
#19
Clara D M van Karnebeek, Mary Dunbar, Csilla Egri, Bryan Sayson, Janetta Milea, Sylvia Stockler-Ipsiroglu, Linda Huh, Mary B Connolly, Gabriella A Horvath
BACKGROUND: Secondary neurotransmitter deficiencies have been reported in several reviews. Our primary aim was to assess the relationship among epilepsy, antiseizure medications, and specific neurotransmitter abnormalities. We also evaluated movement disorders and brain abnormalities via magnetic resonance imaging scans in patients with secondary neurotransmitter defects. METHODS: This is a retrospective case series of 376 patients who underwent neurotransmitter analysis at BC Children's Hospital between 2009 and 2013, for a variety of neurological presentations...
March 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29479305/neuronal-growth-and-behavioral-alterations-in-mice-deficient-for-the-psychiatric-disease-associated-negr1-gene
#20
Katyayani Singh, Desirée Loreth, Bruno Pöttker, Kyra Hefti, Jürgen Innos, Kathrin Schwald, Heidi Hengstler, Lutz Menzel, Clemens J Sommer, Konstantin Radyushkin, Oliver Kretz, Mari-Anne Philips, Carola A Haas, Katrin Frauenknecht, Kersti Lilleväli, Bernd Heimrich, Eero Vasar, Michael K E Schäfer
Neuronal growth regulator 1 (NEGR1), a member of the immunoglobulin superfamily cell adhesion molecule subgroup IgLON, has been implicated in neuronal growth and connectivity. In addition, genetic variants in or near the NEGR1 locus have been associated with obesity and more recently with learning difficulties, intellectual disability and psychiatric disorders. However, experimental evidence is lacking to support a possible link between NEGR1, neuronal growth and behavioral abnormalities. Initial expression analysis of NEGR1 mRNA in C57Bl/6 wildtype (WT) mice by in situ hybridization demonstrated marked expression in the entorhinal cortex (EC) and dentate granule cells...
2018: Frontiers in Molecular Neuroscience
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