Genes dysregulated in the blood of people with Williams syndrome are enriched in protein-coding genes positively selected in humans.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103828
Abstract: Williams syndrome is a complex condition resulting from the heterozygous deletion of nearly 30 genes in chromosome 7. However, precise genotype-to-phenotype mappings are not available for most of its distinctive features. Because WS entails changes… read more here.
Keywords: enriched protein; protein coding; williams syndrome; dysregulated blood ... See more keywords
SA95 INDEPENDENT GENETIC EVIDENCE LINKS STRIATAL-ENRICHED PROTEIN TYROSINE PHOSPHATASE (STEP) TO HUMAN ATTENTION AND SCHIZOPHRENIA-RELATED TRAITS
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.167
Abstract: Background Genetic association and protein expression findings in humans and observations in animal models, have implicated the STriatal-Enriched protein tyrosine Phosphatase (STEP) in cognitive functioning and schizophrenia. Methods Here, we aimed to confirm the association… read more here.
Keywords: striatal enriched; enriched protein; schizophrenia; step ... See more keywords
Pharmacological inhibition of STriatal-Enriched protein tyrosine Phosphatase by TC-2153 reduces hippocampal excitability and seizure propensity.
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17192
Abstract: OBJECTIVE STriatal-Enriched protein tyrosine Phosphatase (STEP) is a brain-specific tyrosine phosphatase. Membrane-bound STEP61 is the only isoform expressed in hippocampus and cortex. Genetic deletion of STEP enhances excitatory synaptic currents and long-term potentiation in the… read more here.
Keywords: seizure; striatal enriched; protein tyrosine; excitability ... See more keywords
Leucine-Enriched Protein Supplementation Increases Lean Body Mass in Healthy Korean Adults Aged 50 Years and Older: A Randomized, Double-Blind, Placebo-Controlled Trial
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DOI: 10.3390/nu12061816
Abstract: Early prevention of sarcopenia could be an important strategy for muscle retention, but most studies have focused on subjects aged 65 or older. Therefore, in this study we investigated the effects of leucine-enriched protein supplementation… read more here.
Keywords: leucine enriched; enriched protein; mass; protein supplementation ... See more keywords