Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. - Test2 - elhamkhani - TriplyDB

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

http://www.wikidata.org/entity/Q30574381

about

Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders Spontaneous inward opening of the dopamine transporter is triggered by PIP2-regulated dynamics of the N-terminus The rare DAT coding variant Val559 perturbs DA neuron function, changes behavior, and alters in vivo responses to psychostimulants.Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.Recombinant Adeno-Associated Virus-mediated rescue of function in a mouse model of Dopamine Transporter Deficiency Syndrome.Towards trans-diagnostic mechanisms in psychiatry: neurobehavioral profile of rats with a loss-of-function point mutation in the dopamine transporter gene.Computational modeling of the N-terminus of the human dopamine transporter and its interaction with PIP2 -containing membranes.Regulation of the Dopamine and Vesicular Monoamine Transporters: Pharmacological Targets and Implications for Disease.Functional mechanisms of neurotransmitter transporters regulated by lipid-protein interactions of their terminal loops.'That DAT' gene that causes dystonia-parkinsonism: broadening the phenotype What is new for monoamine neurotransmitter disorders?Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.Monoamine neurotransmitter disorders--clinical advances and future perspectives.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Impact of disruption of secondary binding site S2 on dopamine transporter function.Membrane transporters as mediators of synaptic dopamine dynamics: implications for disease.Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment.Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells.Functional Rescue of a Misfolded Drosophila melanogaster Dopamine Transporter Mutant Associated with a Sleepless Phenotype by Pharmacological Chaperones.Conformational state interactions provide clues to the pharmacochaperone potential of serotonin transporter partial substrates.A salt bridge linking the first intracellular loop with the C terminus facilitates the folding of the serotonin transporter.A cytosolic relay of heat shock proteins HSP70-1A and HSP90β monitors the folding trajectory of the serotonin transporter.Occupancy of the Zinc-binding Site by Transition Metals Decreases the Substrate Affinity of the Human Dopamine Transporter by an Allosteric Mechanism.An unfolding story: Small molecules remedy misfolded monoamine transporters.Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism.Relax, Cool Down and Scaffold: How to Restore Surface Expression of Folding-Deficient Mutant GPCRs and SLC6 Transporters.Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS.Functional properties of dopamine transporter oligomers after copper linking.PRONOUNCED HYPERACTIVITY, COGNITIVE DYSFUNCTIONS AND BDNF DYSREGULATION IN DOPAMINE TRANSPORTER KNOCKOUT RATS.SLC6 Transporter Folding Diseases and Pharmacochaperoning.A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome.Dopamine receptor agonist treatment for idiopathic dystonia: A reappraisal in humans and mice.The dopamine transporter: An unrecognized nexus for dysfunctional peripheral immunity and signaling in Parkinson's Disease.Behavioral Phenotyping of Dopamine Transporter Knockout Rats: Compulsive Traits, Motor Stereotypies, and Anhedonia.How structural elements evolving from bacterial to human SLC6 transporters enabled new functional properties.

P2860

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P2860

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

http://www.wikidata.org/entity/Q30574381

description

2014 nî lūn-bûn

@nan

2014 թուականի Մարտին հրատարակուած գիտական յօդուած

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2014 թվականի մարտին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

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Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

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type

label

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

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Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

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prefLabel

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

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Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

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Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

@en

P2093

Claudia Carducci

http://www.w3.org/2001/XMLSchema#string

D Holmes Morton

http://www.w3.org/2001/XMLSchema#string

Daniela D'Agnano

http://www.w3.org/2001/XMLSchema#string

Erik G Puffenberger

http://www.w3.org/2001/XMLSchema#string

Esther Meyer

http://www.w3.org/2001/XMLSchema#string

Guntram Borck

http://www.w3.org/2001/XMLSchema#string

Holger Thiele

http://www.w3.org/2001/XMLSchema#string

Jamil Ahmad

http://www.w3.org/2001/XMLSchema#string

Keith Hyland

http://www.w3.org/2001/XMLSchema#string

Kevin A Strauss

http://www.w3.org/2001/XMLSchema#string

P2860

Plasma membrane monoamine transporters: structure, regulation and function

LeuT-desipramine structure reveals how antidepressants block neurotransmitter reuptake

Antidepressant binding site in a bacterial homologue of neurotransmitter transporters

Mechanisms of neurotransmitter release by amphetamines: a review

Genetic mapping and exome sequencing identify variants associated with five novel diseases

Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters

The substrate-driven transition to an inward-facing conformation in the functional mechanism of the dopamine transporter.

Dysregulation of dopamine transporters via dopamine D2 autoreceptors triggers anomalous dopamine efflux associated with attention-deficit hyperactivity disorder.

The neurobiology of slow synaptic transmission.

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.

P304

1107-1119

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scholarly article

P356

10.1093/BRAIN/AWU022

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P407

P433

Pt 4

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P478

137

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P50

Vincenzo Leuzzi

Christian Kubisch

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2014-03-10T00:00:00Z

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260682188

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24613933

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3959557

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