| A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation. | A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.
Sarigecili E, Bulut FD, Anlas O. | 06/25/2022 |
| Results suggest that ASCT1/2 may play an important role in regulating extracellular d-serine and NMDA receptor-mediated physiological effects and that ASCT1/2 inhibitors have the potential for therapeutic benefit. | Phenylglycine analogs are inhibitors of the neutral amino acid transporters ASCT1 and ASCT2 and enhance NMDA receptor-mediated LTP in rat visual cortex slices.
Foster AC, Rangel-Diaz N, Staubli U, Yang JY, Penjwini M, Viswanath V, Li YX. | 06/16/2018 |
| ANKRD50 simultaneously engages multiple parts of the SNX27-retromer-WASH complex machinery in a direct and co-operative interaction network that is needed to efficiently recycle the nutrient transporters | Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50.
Kvainickas A, Orgaz AJ, Nägele H, Diedrich B, Heesom KJ, Dengjel J, Cullen PJ, Steinberg F., Free PMC Article | 08/12/2017 |
| SLC1A4 deficiency should not be considered a population-specific disorder, and all patients with unexplained severe neurodevelopmental delay and the features outlined should be investigated regardless of ethnicity, as there are no known metabolic markers of this potentially treatable condition. | 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. | 04/8/2017 |
| SLC1A4 is the disease causing gene of a novel neurologic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity and thin corpus callosum. | SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B. | 07/2/2016 |
| ASCT1 is essential in brain serine transport. | Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. | 05/7/2016 |
| SLC1A4 disruption may impair brain development and function by decreasing the levels of L-serine in neurons. The identification of additional families with mutations in SLC1A4 would be necessary to confirm its involvement in intellectual disability. | A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL. | 03/5/2016 |
| Na+ interactions with the neutral amino acid transporter ASCT1. | Na+ interactions with the neutral amino acid transporter ASCT1.
Scopelliti AJ, Heinzelmann G, Kuyucak S, Ryan RM, Vandenberg RJ., Free PMC Article | 10/11/2014 |
| This study revealed genetic associations of SLC1A4, SQSTM1, and EIF4EBP1 with MSA. These results may lend genetic support to the hypothesis that oxidative stress is associated with the pathogenesis of MSA. | Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.
Soma H, Yabe I, Takei A, Fujiki N, Yanagihara T, Sasaki H, Soma H, Yabe I, Takei A, Fujiki N, Yanagihara T, Sasaki H. | 01/21/2010 |
| SLC1A4 gene is associated with schizophrenia. | Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia.
Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y, Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y., Free PMC Articles: PMC2491607, PMC2491607 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesL-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
Yokoyama K, Urashima M, Ohkido I, Kono T, Yoshida T, Muramatsu M, Niu T, Hosoya T. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia.
Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y, Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y. Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes.
Soma H, Yabe I, Takei A, Fujiki N, Yanagihara T, Sasaki H, Soma H, Yabe I, Takei A, Fujiki N, Yanagihara T, Sasaki H. No association between genetic variants at the ASCT1 gene and schizophrenia or bipolar disorder in a German sample.
Skowronek MH, Georgi A, Jamra RA, Schumacher J, Becker T, Schmael C, Paul T, Deschner M, Höfels S, Wulff M, Schwarz M, Klopp N, Illig T, Propping P, Cichon S, Nöthen MM, Schulze TG, Rietschel M. | 03/13/2008 |
| results strongly suggest that combinations of amino acid sequence changes and N-linked oligosaccharides in a critical carboxyl-terminal region of extracellular loop 2 (ECL2) control retroviral utilization of both the ASCT1 and ASCT2 receptors | N-linked glycosylation and sequence changes in a critical negative control region of the ASCT1 and ASCT2 neutral amino acid transporters determine their retroviral receptor functions.
Marin M, Lavillette D, Kelly SM, Kabat D., Free PMC Article | 01/21/2010 |
| used as receptor by HERV-W Env glycoprotein | The envelope glycoprotein of human endogenous retrovirus type W uses a divergent family of amino acid transporters/cell surface receptors.
Lavillette D, Marin M, Ruggieri A, Mallet F, Cosset FL, Kabat D., Free PMC Article | 01/21/2010 |
| ASCT1 is able to mediate a concentrative transport of alanine, which is Na+-dependent but not coupled to the Na+ gradient | Active transport of alanine by the neutral amino-acid exchanger ASCT1.
Pinilla J, Barber A, Lostao MP. | 01/21/2010 |