Article
SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane.
Apoptosis : an international journal on programmed cell death - 1 Jan 2009
Watanabe Ken-Ichiro, Ambekar Chhaya, Wang Hanming, Ciccolini Amanda, Schimmer Aaron D, Dror Yigal
Abstract excerpt
Shwachman-Diamond syndrome (SDS) is an inherited disorder characterized by reduced cellularity in the bone marrow and exocrine pancreas. Most patients have mutations in the SBDS gene, whose functions are unknown. We previously showed that cells deficient in the SBDS protein are characterized by a...
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