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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Solute carrier family 3

SLC3A1, D2h, ATRIP, ATR1
This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Papers on SLC3A1
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
GeneRIF
Cardoso et al., Porto, Portugal. In Clin Genet, 2012
In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants are found in cystinuria patients.
Polyglutamine Atrophin provokes neurodegeneration in Drosophila by repressing fat.
GeneRIF
Fanto et al., Milano, Italy. In Embo J, 2011
Polyglutamine Atrophin provokes neurodegeneration in Drosophila by repressing fat.
ATR and ATRIP are recruited to herpes simplex virus type 1 replication compartments even though ATR signaling is disabled.
GeneRIF
Weller et al., Farmington, United States. In J Virol, 2010
ATRIP may function outside the context of the canonical ATR damage signaling pathway during HSV-1 infection to participate in the viral life cycle.
Neurodegeneration by polyglutamine Atrophin is not rescued by induction of autophagy.
GeneRIF
Charroux et al., Milano, Italy. In Cell Death Differ, 2010
Drosophila Atro promote neurodegeneration with autophagic hallmarks both in neuronal photoreceptors and glial cells.
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
GeneRIF
Zelante et al., San Giovanni Rotondo, Italy. In Mol Genet Metab, 2010
Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9.
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