Article
Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.
The EMBO journal - 1 Jan 2024
Amer-Sarsour Fatima, Falik Daniel, Berdichevsky Yevgeny, Kordonsky Alina, Eid Sharbel, Rabinski Tatiana, Ishtayeh Hasan, Cohen-Adiv Stav, Braverman Itzhak, Blumen Sergiu C, Laviv Tal, Prag Gali, Vatine Gad D, Ashkenazi Avraham
Abstract excerpt
Expansion mutations in polyalanine stretches are associated with a growing number of diseases sharing a high degree of genotypic and phenotypic commonality. These similarities prompted us to query the normal function of physiological polyalanine stretches and to investigate whether a common molecular mechanism is involved in these diseases. Here, we show that UBA6, an E1 ubiquitin-activating enzyme, recognizes a...
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