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Published in 2017 at "eNeuro"
DOI: 10.1523/eneuro.0388-17.2017
Abstract: Abstract Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). Symptoms include early developmental delay, seizures, intellectual disability, nonverbal status, autistic features, postnatal…
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Keywords:
neurodegenerative pathology;
christianson syndrome;
pathology;
nhe6 null ... See more keywords
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Published in 2021 at "Metabolites"
DOI: 10.3390/metabo11090622
Abstract: Ubiquitin Specific Protease-13 (USP13) promotes protein de-ubiquitination and is poorly understood in neurodegeneration. USP13 is upregulated in Alzheimer’s disease (AD) and Parkinson’s disease (PD), and USP13 knockdown via shRNA reduces neurotoxic proteins and increases proteasome…
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Keywords:
specific protease;
ubiquitin specific;
neurodegenerative pathology;
pathology ... See more keywords