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(PKU)
8,334 results
  • SFPQ Is an FTO-Binding Protein that Facilitates the Demethylation Substrate Preference. [Journal Article]
    Cell Chem Biol 2020Song H, Wang Y, … Chen PR
  • The fat mass and obesity-associated protein (FTO) is the first identified demethylase of the internal RNA modification N6-methyladenosine (m6A), which also exhibits demethylation activity toward N6,2'-O-dimethyladenosine (m6Am) and N1-methyladenosine (m1A). Demethylation of m6A at specific sites on target transcripts is a key enzymatic function of FTO that modulates diverse physiological and/or p…
  • AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria. [Journal Article]
    Mol Ther Methods Clin Dev 2020; 17:234-245Richards DY, Winn SR, … Harding CO
  • Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency results in hyperphenylalaninemia, which is toxic to the central nervous system. Restriction of dietary phenylalanine intake remains the standard of PKU care and prevents the major neurologic manifestations of the disease, yet shortcomings of dietary therapy remain, including poor adherence to a difficult…
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