Article
Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.
Molecular genetics & genomic medicine - 1 Jul 2020
Arafat Maram, Zeadna Atif, Levitas Eliahu, Har Vardi Iris, Samueli Benzion, Shaco-Levy Ruth, Dabsan Salam, Lunenfeld Eitan, Huleihel Mahmoud, Parvari Ruti
Abstract excerpt
BACKGROUND: Ubiquitin-Specific Peptidase 26 (USP26), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affects AR signaling. METHODS: The patient was thoroughly characterized clinically. He was genetically tested by...
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