Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. - Test2 - elhamkhani - TriplyDB

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

http://www.wikidata.org/entity/Q37209217

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Mechanisms of dopamine transporter regulation in normal and disease states X-ray structure of dopamine transporter elucidates antidepressant mechanism Genetics of monoamine neurotransmitter disorders The SLC6 transporters: perspectives on structure, functions, regulation, and models for transporter dysfunction Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders Neurotransmitter and psychostimulant recognition by the dopamine transporter.Genetic mapping and exome sequencing identify variants associated with five novel diseases The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders Animal models of tic disorders: a translational perspective.Forward genetic analysis to identify determinants of dopamine signaling in Caenorhabditis elegans using swimming-induced paralysis Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.A random set scoring model for prioritization of disease candidate genes using protein complexes and data-mining of GeneRIF, OMIM and PubMed records.Recombinant Adeno-Associated Virus-mediated rescue of function in a mouse model of Dopamine Transporter Deficiency Syndrome.Dopamine transporter trafficking: rapid response on demand.De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder Genetic targeting of the amphetamine and methylphenidate-sensitive dopamine transporter: on the path to an animal model of attention-deficit hyperactivity disorder.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study SLC6 transporters: structure, function, regulation, disease association and therapeutics Regulation of the Dopamine and Vesicular Monoamine Transporters: Pharmacological Targets and Implications for Disease.Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome Dopamine transporter oligomerization: impact of combining protomers with differential cocaine analog binding affinities A Physical Interaction between the Dopamine Transporter and DJ-1 Facilitates Increased Dopamine Reuptake Monoamine transporters: vulnerable and vital doorkeepers.Attention deficit/hyperactivity disorder-derived coding variation in the dopamine transporter disrupts microdomain targeting and trafficking regulation.Visualization of the cocaine-sensitive dopamine transporter with ligand-conjugated quantum dots.The solute carrier 6 family of transporters Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.Infantile parkinsonism-dystonia: a dopamine "transportopathy"The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures 'That DAT' gene that causes dystonia-parkinsonism: broadening the phenotype Emerging common molecular pathways for primary dystonia.The Atypical MAP Kinase SWIP-13/ERK8 Regulates Dopamine Transporters Through a Rho-Dependent Mechanism.Sequence determinants of the Caenhorhabditis elegans dopamine transporter dictating in vivo axonal export and synaptic localization.Membrane transporters as mediators of synaptic dopamine dynamics: implications for disease.Single-quantum-dot tracking reveals altered membrane dynamics of an attention-deficit/hyperactivity-disorder-derived dopamine transporter coding variant.Characterization of [³H]CFT binding to the norepinephrine transporter suggests that binding of CFT and nisoxetine is not mutually exclusive.Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells.

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Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

http://www.wikidata.org/entity/Q37209217

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article científic

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articolo scientifico

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artigo científico

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scientific article published on 26 May 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Homozygous loss-of-function mu ...... fantile parkinsonism-dystonia.

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Homozygous loss-of-function mu ...... fantile parkinsonism-dystonia.

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Homozygous loss-of-function mu ...... fantile parkinsonism-dystonia.

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Homozygous loss-of-function mu ...... fantile parkinsonism-dystonia.

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Homozygous loss-of-function mu ...... fantile parkinsonism-dystonia.

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Homozygous loss-of-function mu ...... fantile parkinsonism-dystonia.

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Journal of Clinical Investigation

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Homozygous loss-of-function mu ...... nfantile parkinsonism-dystonia

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Esther Meyer

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Evangeline Wassmer

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Louise Tee

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Maarten E A Reith

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Manju A Kurian

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Philip Jardine

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Santosh R Mordekar

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Shanaz Pasha

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Shu-Yuan Cheng

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Simon J R Heales

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P2860

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporter

LeuT-desipramine structure reveals how antidepressants block neurotransmitter reuptake

Antidepressant binding site in a bacterial homologue of neurotransmitter transporters

The pediatric neurotransmitter disorders

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

The dopamine transporter: role in neurotoxicity and human disease.

Monoamine transporters: from genes to behavior.

How does deep brain stimulation work? Present understanding and future questions.

Dopamine transporter: involvement in selective dopaminergic neurotoxicity and degeneration.

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10.1172/JCI39060

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Parkinson's disease

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