Article
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
Proceedings of the National Academy of Sciences of the United States of America - 19 Apr 2016
Sohn Mira, Ivanova Pavlina, Brown H Alex, Toth Daniel J, Varnai Peter, Kim Yeun Ju, Balla Tamas
Abstract excerpt
Lenz-Majewski syndrome (LMS) is a rare disease characterized by complex craniofacial, dental, cutaneous, and limb abnormalities combined with intellectual disability. Mutations in thePTDSS1gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, were described as causative in LMS patients. Such mutations render PSS1 insensitive to feedback inhibition by PS levels. Here we show that expression of...
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