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124 results

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Page 1
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. ...We identify an 8-year-old patient with global developmental delay, spasticity, epilepsy, and microcephaly who has a de novo heterozygous three amino acid d …
SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. ...We identify an …
SLC1A4: A Powerful Prognostic Marker and Promising Therapeutic Target for HCC.
Peng X, Chen R, Cai S, Lu S, Zhang Y. Peng X, et al. Front Oncol. 2021 Mar 11;11:650355. doi: 10.3389/fonc.2021.650355. eCollection 2021. Front Oncol. 2021. PMID: 33777811 Free PMC article.
However, the correlation between SLC1A4 and Hepatocellular Carcinoma (HCC) remains unclear. In our study, integrative bioinformatics and functional profiling were performed to reveal the prognosis and potential function of SLC1A4 in HCC. ...Silenced SLC1A4 ev …
However, the correlation between SLC1A4 and Hepatocellular Carcinoma (HCC) remains unclear. In our study, integrative bioinformatics …
Genetic analysis of potential biomarkers and therapeutic targets in ferroptosis from coronary artery disease.
Wu X, Qin K, Iroegbu CD, Xiang K, Peng J, Guo J, Yang J, Fan C. Wu X, et al. J Cell Mol Med. 2022 Apr;26(8):2177-2190. doi: 10.1111/jcmm.17239. Epub 2022 Feb 13. J Cell Mol Med. 2022. PMID: 35152560 Free PMC article.
A total of 10 CAD-related DE-FRGs were obtained, which were closely linked to autophagy regulation and immune response. Subsequently, CA9, CBS, CEBPG, HSPB1, SLC1A4, STMN1 and TRIB3 among the 10 DE-FRGs were identified as marker genes by LASSO and SVM-RFE algorithms, which …
A total of 10 CAD-related DE-FRGs were obtained, which were closely linked to autophagy regulation and immune response. Subsequently, CA9, C …
Analysis of a new therapeutic target and construction of a prognostic model for breast cancer based on ferroptosis genes.
Li Q, Liu H, Jin Y, Yu Y, Wang Y, Wu D, Guo Y, Xi L, Ye D, Pan Y, Zhang X, Li J. Li Q, et al. Comput Biol Med. 2023 Oct;165:107370. doi: 10.1016/j.compbiomed.2023.107370. Epub 2023 Aug 24. Comput Biol Med. 2023. PMID: 37643511 Free article.
Eleven prognostication-related genes (TP63, IFNG, MT3, ANO6, FLT3, PTGS2, SLC1A4, JUN, SLC7A5, CHAC1, and TF) were identified from differentially expressed genes to construct a survival prediction model, which showed a good prediction ability. ...
Eleven prognostication-related genes (TP63, IFNG, MT3, ANO6, FLT3, PTGS2, SLC1A4, JUN, SLC7A5, CHAC1, and TF) were identified from di …
ASCT1 (Slc1a4) transporter is a physiologic regulator of brain d-serine and neurodevelopment.
Kaplan E, Zubedat S, Radzishevsky I, Valenta AC, Rechnitz O, Sason H, Sajrawi C, Bodner O, Konno K, Esaki K, Derdikman D, Yoshikawa T, Watanabe M, Kennedy RT, Billard JM, Avital A, Wolosker H. Kaplan E, et al. Proc Natl Acad Sci U S A. 2018 Sep 18;115(38):9628-9633. doi: 10.1073/pnas.1722677115. Epub 2018 Sep 5. Proc Natl Acad Sci U S A. 2018. PMID: 30185558 Free PMC article.
d-serine is a physiologic coagonist of NMDA receptors, but little is known about the regulation of its synthesis and synaptic turnover. The amino acid exchangers ASCT1 (Slc1a4) and ASCT2 (Slc1a5) are candidates for regulating d-serine levels. ...
d-serine is a physiologic coagonist of NMDA receptors, but little is known about the regulation of its synthesis and synaptic turnover. The …
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD. Conroy J, et al. J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193218
SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures. ...Exome sequencing performed in an Irish proband identified a novel homozygous nonsense …
SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnor …
A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.
Sarigecili E, Bulut FD, Anlas O. Sarigecili E, et al. Clin Neurol Neurosurg. 2022 Jul;218:107283. doi: 10.1016/j.clineuro.2022.107283. Epub 2022 May 10. Clin Neurol Neurosurg. 2022. PMID: 35605507
L-serine is an important amino acid that ensures neuronal differentiation and development. The SLC1A4 gene encodes proteins that transport amino acids such as serine, alanine, threonine and glutamate into neurons. Pathogenic variants in SLC1A4 gene interneuron trans …
L-serine is an important amino acid that ensures neuronal differentiation and development. The SLC1A4 gene encodes proteins that tran …
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.
Abdelrahman HA, Al-Shamsi A, John A, Ali BR, Al-Gazali L. Abdelrahman HA, et al. Child Neurol Open. 2019 Oct 8;6:2329048X19880647. doi: 10.1177/2329048X19880647. eCollection 2019. Child Neurol Open. 2019. PMID: 31763347 Free PMC article.
This disease was first described in 2015 in several families from the Ashkenazi Jewish ancestry with a founder mutation in SLC1A4 (p.E256K) as the underlying genetic cause. SLC1A4 gene encodes for the amino acid transporter ASCT1 that is necessary for serine cellula …
This disease was first described in 2015 in several families from the Ashkenazi Jewish ancestry with a founder mutation in SLC1A4 (p. …
124 results