ArticleScientific reports2025
Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Treatment in phenylketonuria is based on using a diet aimed at protecting the brain from uncontrolled hyperphenylalaninemia. Although treatment methods are well established, clinical outcomes vary among patients. This may be due to alterations of phenylalanine transport mediated by the amino acid transporter LAT1, which also regulates the function of the mTORC1/proteasomal pathway. We investigated the clinical and cellular effects of a structural variant in the SLC7A5 gene, which encodes LAT1. The investigated variant was previously associated with altered phenylalanine metabolism in preliminary studies. We assessed physical and intellectual development in children with phenylketonuria. Next, we explored the cellular mechanisms underlying potential phenotypic differences between carriers and noncarriers of the rs113883650 polymorphism - a marker of the studied SLC7A5 variant. For cellular experiments we used a model of hyperphenylalaninemia based on induced pluripotent stem cells. We assessed LAT1 abundance and performed transcriptomic and proteomic analyses. We found that carriers of rs113883650 were more prone to being overweight but exhibited significantly better intellectual development. They also showed a corresponding increased LAT1 abundance and decreased expression of proteasomal genes and the FOXO signalling pathway. We propose considering of the rs113883650 status during the follow-up of children with phenylketonuria. It may also hold relevance in other LAT1-related conditions including cancers.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.