Dopamine Transporter (DAT)
SLC6A3; DAT1; Sodium-dependent dopamine transporter; Dopamine Active Transporter; SLC6-A3; Solute Carrier Family 6(neurotransmitter Transporter,Dopamine),Member 3
Dopamine transporter is a membrane-spanning protein that binds the neurotransmitter dopamine; DAT provides the primary mechanism through which dopamine is cleared from synapses, transporting dopamine from the synapse into a neuron. DAT is present in the peri-synaptic area of dopaminergic neurons in areas of the brain where dopamine signaling is common. DAT is implicated in a number of dopamine-related disorders, including attention deficit hyperactivity disorder, bipolar disorder, clinical depression, and alcoholism. DAT is located on human chromosome 5, consists of 15 coding exons, and is roughly 64 kbp long. Evidence for the associations between DAT and dopamine related disorders has come from a genetic polymorphism in the DAT, which influences the amount of protein expressed.
Organism species: Homo sapiens (Human)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | V211Hu01 | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | MV211Hu22 | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| PV211Hu01 | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | KEV211Hu | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | KEV211Mu | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | V211Ra01 | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | MV211Ra21 | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| PV211Ra01 | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | KEV211Ra | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Chicken (Gallus)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Ovis aries; Ovine (Sheep)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Cavia (Guinea pig )
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Equus caballus; Equine (Horse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Capra hircus; Caprine (Goat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Organism species: Pan-species (General)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Dopamine Transporter (DAT) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Dopamine Transporter (DAT) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Dopamine Transporter (DAT) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Dopamine Transporter (DAT) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Dopamine Transporter (DAT) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Dopamine Transporter (DAT) | CLIA assay for Antigen Detection |
Reference
"A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs."
Brain Res. Mol. Brain Res. 15:161-166(1992) [PubMed] [Europe PMC] [Abstract]
"Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter."
Mol. Pharmacol. 42:383-390(1992) [PubMed] [Europe PMC] [Abstract]
"Pharmacological heterogeneity of the cloned and native human dopamine transporter: disassociation of [3H]WIN 35,428 and [3H]GBR 12,935 binding."
Mol. Pharmacol. 45:125-135(1994) [PubMed] [Europe PMC] [Abstract]
"Structure and organization of the gene encoding human dopamine transporter."
Gene 195:11-18(1997) [PubMed] [Europe PMC] [Abstract]
"Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations."
Mol. Psychiatry 5:283-292(2000) [PubMed] [Europe PMC] [Abstract]
"Evidence for linkage disequilibrium between the dopamine transporter and bipolar disorder."
Am. J. Med. Genet. 105:145-151(2001) [PubMed] [Europe PMC] [Abstract]
"Sequence variation in the primate dopamine transporter gene and its relationship to social dominance."
Mol. Biol. Evol. 25:18-28(2008) [PubMed] [Europe PMC] [Abstract]
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
"Human and mouse dopamine transporter genes: conservation of 5'-flanking sequence elements and gene structures."
Brain Res. Mol. Brain Res. 30:327-335(1995) [PubMed] [Europe PMC] [Abstract]
"Dopamine transporter mRNA content in human substantia nigra decreases precipitously with age."
Proc. Natl. Acad. Sci. U.S.A. 89:7095-7099(1992) [PubMed] [Europe PMC] [Abstract]
"Functional interaction between monoamine plasma membrane transporters and the synaptic PDZ domain-containing protein PICK1."
Neuron 30:121-134(2001) [PubMed] [Europe PMC] [Abstract]
"Symmetrical homodimer of the human dopamine transporter revealed by cross-linking Cys306 at the extracellular end of TM6."
Abstr. - Soc. Neurosci. 27:1866-1866(2001)
"The multiple LIM domain-containing adaptor protein Hic-5 synaptically colocalizes and interacts with the dopamine transporter."
J. Neurosci. 22:7045-7054(2002) [PubMed] [Europe PMC] [Abstract]
"Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant."
Proc. Natl. Acad. Sci. U.S.A. 101:15650-15655(2004) [PubMed] [Europe PMC] [Abstract]
"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]
Erratum
Nat. Genet. 23:373-373(1999)
"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
"Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia."
J. Clin. Invest. 119:1595-1603(2009) [PubMed] [Europe PMC] [Abstract]
"A population-specific HTR2B stop codon predisposes to severe impulsivity."
Nature 468:1061-1066(2010) [PubMed] [Europe PMC] [Abstract]