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A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.
Cai K, Wang J, Eissman J, Wang J, Nwosu G, Shen W, Liang HC, Li XJ, Zhu HX, Yi YH, Song J, Xu D, Delpire E, Liao WP, Shi YW, Kang JQ
(2019) Exp Neurol 320: 112973
MeSH Terms: Adolescent, Animals, GABA Plasma Membrane Transport Proteins, HEK293 Cells, HeLa Cells, Humans, Lennox Gastaut Syndrome, Male, Mutation, Missense, Pedigree, Protein Transport, Rats
Added March 18, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
The SLC6 transporters: perspectives on structure, functions, regulation, and models for transporter dysfunction.
Rudnick G, Krämer R, Blakely RD, Murphy DL, Verrey F
(2014) Pflugers Arch 466: 25-42
MeSH Terms: Amino Acid Sequence, Animals, GABA Plasma Membrane Transport Proteins, Humans, Ion Transport, Molecular Sequence Data
Added February 12, 2015
0 Communities
1 Members
0 Resources
6 MeSH Terms
Interpreting metabolomic profiles using unbiased pathway models.
Deo RC, Hunter L, Lewis GD, Pare G, Vasan RS, Chasman D, Wang TJ, Gerszten RE, Roth FP
(2010) PLoS Comput Biol 6: e1000692
MeSH Terms: Amino Acid Transport Systems, Carrier Proteins, Cluster Analysis, Computational Biology, Extracellular Space, GABA Plasma Membrane Transport Proteins, Glucose, Glucose Metabolism Disorders, Glucose Tolerance Test, Humans, Intracellular Space, Metabolic Networks and Pathways, Metabolome, Models, Biological, Principal Component Analysis
Added April 15, 2014
0 Communities
1 Members
0 Resources
15 MeSH Terms
Alterations in GABA-related transcriptome in the dorsolateral prefrontal cortex of subjects with schizophrenia.
Hashimoto T, Arion D, Unger T, Maldonado-Avilés JG, Morris HM, Volk DW, Mirnics K, Lewis DA
(2008) Mol Psychiatry 13: 147-61
MeSH Terms: Adult, Aged, Animals, Antipsychotic Agents, Benzodiazepines, Case-Control Studies, Chloroquinolinols, Female, GABA Plasma Membrane Transport Proteins, Gene Expression Regulation, Glutamate Decarboxylase, Humans, Macaca fascicularis, Male, Middle Aged, Neuropeptides, Olanzapine, Oligonucleotide Array Sequence Analysis, Prefrontal Cortex, Protein Subunits, Receptors, GABA-A, Schizophrenia
Added May 19, 2014
0 Communities
1 Members
0 Resources
22 MeSH Terms
Sequence variation in the human dopamine transporter gene in children with attention deficit hyperactivity disorder.
Mazei-Robison MS, Couch RS, Shelton RC, Stein MA, Blakely RD
(2005) Neuropharmacology 49: 724-36
MeSH Terms: Adolescent, Alanine, Alleles, Attention Deficit Disorder with Hyperactivity, Child, Cohort Studies, Dopamine Plasma Membrane Transport Proteins, Electrophoresis, Capillary, Exons, Family Health, Female, GABA Plasma Membrane Transport Proteins, Gene Frequency, Genetic Variation, Genotype, Humans, Male, Minisatellite Repeats, Polymorphism, Genetic, RNA, Messenger, Retrospective Studies, Reverse Transcriptase Polymerase Chain Reaction, Valine
Added July 10, 2013
1 Communities
1 Members
0 Resources
23 MeSH Terms
SNARE-ing neurotransmitter transporters.
Blakely RD, Sung U
(2000) Nat Neurosci 3: 969-71
MeSH Terms: Animals, Antigens, Surface, Carrier Proteins, GABA Plasma Membrane Transport Proteins, Humans, Membrane Proteins, Membrane Transport Proteins, Nerve Tissue Proteins, Neurotransmitter Agents, Organic Anion Transporters, SNARE Proteins, Synaptic Transmission, Syntaxin 1, Vesicular Transport Proteins
Added July 10, 2013
1 Communities
1 Members
0 Resources
14 MeSH Terms
Sodium-dependent GABA-induced currents in GAT1-transfected HeLa cells.
Risso S, DeFelice LJ, Blakely RD
(1996) J Physiol 490 ( Pt 3): 691-702
MeSH Terms: Animals, Carrier Proteins, Cells, Cultured, Dose-Response Relationship, Drug, GABA Plasma Membrane Transport Proteins, HeLa Cells, Humans, Membrane Potentials, Membrane Proteins, Membrane Transport Proteins, Organic Anion Transporters, Rats, Sodium, Time Factors, Transfection, gamma-Aminobutyric Acid
Added July 10, 2013
1 Communities
1 Members
0 Resources
16 MeSH Terms
Functional expression and CNS distribution of a beta-alanine-sensitive neuronal GABA transporter.
Clark JA, Deutch AY, Gallipoli PZ, Amara SG
(1992) Neuron 9: 337-48
MeSH Terms: Amino Acid Sequence, Animals, Base Sequence, Brain Chemistry, Carrier Proteins, Chlorides, DNA, GABA Plasma Membrane Transport Proteins, Gene Expression, Humans, Male, Membrane Proteins, Membrane Transport Proteins, Molecular Sequence Data, Nerve Tissue Proteins, Neuroglia, Neurons, Nucleic Acid Hybridization, Organic Anion Transporters, RNA, Messenger, Rats, Rats, Inbred Strains, Sodium, Tissue Distribution, beta-Alanine
Added May 27, 2014
0 Communities
1 Members
0 Resources
25 MeSH Terms