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Jiayu H, Jiaying L, Hanke Z, et al
Angelman syndrome (AS) , characterized by microcephaly, seizures, motor dysfunction, and mental retardation, is a result of maternal chromosome deletions in the region 15q11-q13 associated with ubiquitin-protein ligase E3A (UBE3A) critical region [379] Angelman syndrome (AS) UBE3A encodes E6-associated protein (E6-AP), which acts as a cellular ubiquitin ligase and establishes a covalent linkage between a 76-amino acid ubiquitin molecule and its target protein to form a polyubiquitylated substrate [379]
A diagnosis of primary carnitine deficiency requires that serum, red cell and/or tissue carnitine levels be low and that the patient does not have a primary defect in fatty acid or organic acid oxidation (see CLINICAL PHARMACOLOGY)
Novel noninvasive approaches to the treatment of obesity: from pharmacotherapy to gene therapy
It al so contributes to bone density , nervous system function, and immunity through improved cop per absorption
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