Associated Papers
Alpha-methyl-para-tyrosine and amphetamine ameliorate hyperactivity in a novel mouse model of dopamine transporter deficiency syndrome.
Russo EE et al.
Embo Molecular Medicine, 2026
Sex-Specific, Intermediate Behavioral Phenotypes in Heterozygous Dopamine Transporter Mutant DAT T356M Mice.
Harris E et al.
Genes, Brain, and Behavior, 2025
The Ins and Outs of Dopamine Transporter Gene Manipulation: In Vivo Models of DAT Dysfunction.
Stewart A et al.
Advances in Neurobiology, 2025
Developmental Dopaminergic Signaling Modulates Neural Circuit Formation and Contributes to Autism Spectrum Disorder-Related Phenotypes.
Lu X et al.
The American Journal of Pathology, 2024
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 2024
Leaky lessons learned: Efflux prone dopamine transporter variant reveals sex and circuit specific contributions of D2 receptor signalling to neuropsychiatric disease.
Mayer FP et al.
Basic & Clinical Pharmacology & Toxicology, 2024
The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ et al.
Jci Insight, 2023
De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.
Chen WX et al.
Human Genomics, 2022
A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.
Qin Y et al.
Molecular Psychiatry, 2022
The dopamine transporter gene SLC6A3: multidisease risks.
Reith MEA et al.
Molecular Psychiatry, 2022
Functional SLC6A3 polymorphisms differentially affect autism spectrum disorder severity: a study on Indian subjects.
Saha S et al.
Metabolic Brain Disease, 2022
Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates.
DiCarlo GE et al.
Neuroscience and Biobehavioral Reviews, 2022
Identification of Chromosomal Regions Linked to Autism-Spectrum Disorders: A Meta-Analysis of Genome-Wide Linkage Scans.
Mpoulimari I et al.
Genetic Testing and Molecular Biomarkers, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
Aguilar JI et al.
Elife, 2021
Descriptors of Secondary Active Transporter Function and How They Relate to Partial Reactions in the Transport Cycle.
Schicker K et al.
Membranes, 2021
Unique roles of rare variants in the genetics of complex diseases in humans.
Momozawa Y et al.
Journal of Human Genetics, 2021
Autism-Associated Variant in the SLC6A3 Gene Alters the Oral Microbiome and Metabolism in a Murine Model.
DiCarlo GE et al.
Frontiers in Psychiatry, 2021
Dopaminergic Dysregulation in Syndromic Autism Spectrum Disorders: Insights From Genetic Mouse Models.
Kosillo P et al.
Frontiers in Neural Circuits, 2021
Neurobehavioral changes arising from early life dopamine signaling perturbations.
Areal LB et al.
Neurochemistry International, 2020
Differential effects of psychoactive substances on human wildtype and polymorphic T356M dopamine transporters (DAT).
Zwartsen A et al.
Toxicology, 2019
Early-Life Stress in D2 Heterozygous Mice Promotes Autistic-like Behaviors through the Downregulation of the BDNF-TrkB Pathway in the Dorsal Striatum.
Lee Y et al.
Experimental Neurobiology, 2019
Autism-linked dopamine transporter mutation alters striatal dopamine neurotransmission and dopamine-dependent behaviors.
DiCarlo GE et al.
The Journal of Clinical Investigation, 2019
Neuropsychiatric disease-associated genetic variants of the dopamine transporter display heterogeneous molecular phenotypes.
Herborg F et al.
The Journal of Biological Chemistry, 2018
Structural basis for recognition of diverse antidepressants by the human serotonin transporter.
Coleman JA et al.
Nature Structural & Molecular Biology, 2018
Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.
Guo QH et al.
Journal of Cellular and Molecular Medicine, 2017
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.
Li J et al.
Molecular Psychiatry, 2016
Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmission and behaviors.
Cartier E et al.
Ebiomedicine, 2015
Zn(2+) reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder.
Hamilton PJ et al.
Molecular Autism, 2015
SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.
Bowton E et al.
Translational Psychiatry, 2014
Genetic targeting of the amphetamine and methylphenidate-sensitive dopamine transporter: on the path to an animal model of attention-deficit hyperactivity disorder.
Mergy MA et al.
Neurochemistry International, 2014
An N-terminal threonine mutation produces an efflux-favorable, sodium-primed conformation of the human dopamine transporter.
Fraser R et al.
Molecular Pharmacology, 2014
Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.
Hansen FH et al.
The Journal of Clinical Investigation, 2014
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder.
Hamilton PJ et al.
Molecular Psychiatry, 2013
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Neale BM et al.
Nature, 2012