Publication: Diverse Functional Properties of Wilson Disease ATP7B Variants
Diverse Functional Properties of Wilson Disease ATP7B Variants
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Huster, D., Kühne, A., Bhattacharjee, A., Raines, L., Jantsch, V., Noe, J., Schirrmeister, W., Sommerer, I., Sabri, O., Berr, F., Mössner, J., Stieger, B., Caca, K., & Lutsenko, S. (2012). Diverse Functional Properties of Wilson Disease ATP7B Variants. Gastroenterology, 142(4), 947-956.e5. https://doi.org/10.1053/j.gastro.2011.12.048
Abstract
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Abstract
BACKGROUND & AIMS: Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease.
METHODS: We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovir
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Creators (Authors)
- Huster, Dominik
- Bhattacharjee, Ashima
- Raines, Lily
- Jantsch, Vanessa
- Noe, Johannes
- Schirrmeister, Wiebke
- Sommerer, Ines
- Sabri, Osama
- Berr, Frieder
- Stieger, Bruno
- Caca, Karel
- Lutsenko, Svetlana
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Citations
Huster, D., Kühne, A., Bhattacharjee, A., Raines, L., Jantsch, V., Noe, J., Schirrmeister, W., Sommerer, I., Sabri, O., Berr, F., Mössner, J., Stieger, B., Caca, K., & Lutsenko, S. (2012). Diverse Functional Properties of Wilson Disease ATP7B Variants. Gastroenterology, 142(4), 947-956.e5. https://doi.org/10.1053/j.gastro.2011.12.048
