A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome

Overview of attention for article published in Blood, March 2005

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https://t.co/hMg7HGfixz "The role of ABCA1 in this SS patient was confirmed by complementation with wild-type ABCA1 in transformed lymphocytes from the SS patient and further supported by pharmacologic data."

https://t.co/hMg7HGfixz "We identified a novel missense mutation in ABCA1 (R1925Q) in the SS patient, which results in severely impaired trafficking and reduced expression of functional ABCA1 protein at the cell surface."

https://t.co/hMg7HGfixz "PS translocation in SS-ABCA1+ cells was completely blocked by the ABCA1 inhibitor glyburide"

https://t.co/hMg7HGfixz "The adenosine triphosphate (ATP)–binding cassette transporter A1 (ABCA1) has been implicated in PS translocation both by genetic disruption in mice7 and chemical inhibition."

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