Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Endocrinology, Diabetes and Metabolism
Link
http://link.springer.com/content/pdf/10.1186/s12902-018-0315-6.pdf
Reference33 articles.
1. Marshall JD, Maffei P, Collin GB, Naggert JK. Alstrom syndrome: genetics and clinical overview. Curr Genomics. 2011;12(3):225–35.
2. Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet. 2002; Available from: http://www.nature.com/doifinder/10.1038/ng874 [cited 19 Jan 2017].
3. Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet. 2002; Available from: http://www.nature.com/doifinder/10.1038/ng867 [cited 19 Jan2017].
4. Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes. 2005;54(5):1581–7.
5. Álvarez-Satta M, Castro-Sánchez S, Valverde D. Alström syndrome: current perspectives. Appl Clin Genet. 2015;8:171.
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