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(2004) The Keap1-BTB protein is an adaptor that bridges Nrf2 to a Cul3-based E3 ligase: oxidative stress sensing by a Cul3-Keap1 ligase

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Characteristic clinical manifestations included early infantile onset hypotonia, swallowing, speech difficulties, respiratory insufficiencies, and a fatal course (seven died within the first year of life and one at age 16 years)