2025年3月30日 · SLC1A4 (Solute Carrier Family 1 Member 4) is a Protein Coding gene. Diseases associated with SLC1A4 include Spastic Tetraplegia, Thin Corpus Callosum, And Progressive …

The amino acid exchangers ASCT1 (Slc1a4) and ASCT2 (Slc1a5) are candidates for regulating d-serine levels. Using ASCT1 and ASCT2 KO mice, we report that ASCT1, rather than ASCT2, …

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 gene encodes for the amino acid transporter ASCT1 that is necessary for serine cellular transport to neurons. We clinically evaluated 2 Pakistani siblings with severe global …

2016年11月4日 · Title: Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. SLC1A4 disruption …

SLC1A4 deficiency is a genetic condition that occurs when a change or mutation in DNA is inherited from both parents in an autosomal recessive manner, which means that both copies …

Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene. [5][6][7] In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney. [8] …

2021年3月11日 · The results showed that the mRNA and protein levels of SLC1A4 were elevated in HCC, and it was a powerful independent prognostic marker for overall survival (OS). The co …

2016年5月19日 · SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus …

SLC1A4 is a prognostic marker in Glioblastoma multiforme, Kidney renal clear cell carcinoma, Liver hepatocellular carcinoma, Uterine corpus endometrial carcinoma