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Title: The ciliary impact of nonciliary gene mutations
Author: Lovera, Marta
Lüders, Jens
Keywords: Mutació (Biologia)
Mutation (Biology)
Issue Date: 25-Jun-2021
Publisher: Elsevier Current Trends
Abstract: Mutations in genes encoding centriolar or ciliary proteins cause diseases collectively known as ‘ciliopathies’. Interestingly, the Human Phenotype Ontology database lists numerous disorders that display clinical features reminiscent of ciliopathies but do not involve defects in the centriole–cilium proteome. Instead, defects in different cellular compartments may impair cilia indirectly and cause additional, nonciliopathy phenotypes. This phenotypic heterogeneity, perhaps combined with the field's centriole–cilium-centric view, may have hindered the recognition of ciliary contributions. Identifying these diseases and dissecting how the underlying gene mutations impair cilia not only will add to our understanding of cilium assembly and function but also may open up new therapeutic avenues.
Note: Versió postprint del document publicat a:
It is part of: Trends In Cell Biology, 2021-NA
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ISSN: Lovera M; Luders J. The ciliary impact of nonciliary gene mutations. Trends In Cell Biology, 2021-NA
Appears in Collections:Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona))

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