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6 results for “SLC1A3”
A SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
<p>Familial hemiplegic migraine (FHM) is a group of rare familial disorders caused, in most cases, by mutations in <em>CACNA1A</em> and <em>ATP1A2</em>.<sup><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R1">1</a></sup> Heterozygous mutations in solute carrier family 1 member 3 (<em>SLC1A3</em>), encoding glial glutamate transporter, are associated with episodic ataxia type 6 (EA6).<sup><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R2">2</a>,<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R3">–</a><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R5">5</a></sup> In addition to episodic ataxia (EA), alternating hemiplegia and hemiplegic migraine have been reported twice in patients with EA6.<sup><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R2">2</a>,<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R4">4</a></sup> Mutations in <em>SLC1A3</em> are very rare; screenings in cohorts of EA and alternating hemiplegia have yielded either negative results<sup><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R3">3</a>,<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R6">6</a>,<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R7">–</a><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413/#R8">8</a></sup> or variants of unclear significance.<sup>e-1--e-3</sup> Herein, we characterize a patient featuring sporadic hemiplegic migraine (SHM) responsive to acetazolamide (ACZ) and mild cerebellar atrophy associated with a new variant in <em>SLC1A3.</em> We also report the utility of proton magnetic resonance spectroscopy (MRS) for this condition.</p>
A SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
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Data underlying the article: Molecular insights into disease-associated glutamate transporter (EAAT1 / SLC1A3) variants using in silico
<p>This repository contains the scripts and data for the project published in Frontiers in Molecular Biosciences under the title:<strong> Molecular insights into disease-associated glutamate transporter (EAAT1 / SLC1A3) variants using in silico and in vitro approaches</strong> (DOI <a href="https://www.frontiersin.org/articles/10.3389/fmolb.2023.1286673/full">10.3389/fmolb.2023.1286673</a>). </p>
A role for p53 in the adaptation to glutamine starvation through the expression of Slc1a3
GEO Series GSE116087. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Genome-wide CRISPR-Cas9 screen identifies SLC1A3 as a key contributor to L-asparaginase Resistance in Solid tumors
GEO Series GSE134074. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Slc1a3-2A-CreERT2 knock-in mouse to study astrocyte gene expression and calcium signaling
GEO Series GSE145484. Mus musculus. 13 samples. Type: Other.
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Annotated Behaviour and Observability Dataset (ABODe)
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