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Alström syndrome: current perspectives

Authors Álvarez-Satta M, Castro-Sánchez S, Valverde D

Received 23 April 2015

Accepted for publication 22 May 2015

Published 21 July 2015 Volume 2015:8 Pages 171—179

DOI https://doi.org/10.2147/TACG.S56612

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3

Editor who approved publication: Prof. Dr. Martin H. Maurer


María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde

Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain

Abstract: Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especially for those without the typical ALMS phenotype. In an effort to deepen the understanding of the pathogenesis of ALMS disease, much work has been done, in order to establish the biological implication of ALMS1 protein, which is still being elucidated. In addition to its role in ciliary function and structure maintenance, this protein has been implicated in intracellular trafficking, regulation of cilia signaling pathways, and cellular differentiation, among others. All these progresses will lead to identifying therapeutic targets, thus opening the way to future personalized therapies for human ciliopathies.

Keywords: Alström syndrome, ciliopathies, ALMS1 gene, ALMS1 protein, molecular diagnosis

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