Journal
APPLICATION OF CLINICAL GENETICS
Volume 8, Issue -, Pages 171-179Publisher
DOVE MEDICAL PRESS LTD
DOI: 10.2147/TACG.S56612
Keywords
Alstro syndrome; ciliopathies; ALMS1 gene; ALMS1 protein; molecular diagnosis
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Funding
- BIOCAPS Project (from European Commission under the 7th Framework Programme, FP-7-REGPOT) [FP7-316265]
- Fondo de Investigacion Sanitaria del Instituto de Salud Carlos III-FEDER [PI12/01853]
- Spanish Ministry of Education, Culture and Sports
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Alstrom 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.
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