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A role for Alstrom syndrome protein, Alms1, in kidney ciliogenesis and cellular quiescence

Li, Guochun; Vega, Raquel; Nelms, Keats; Gekakis, Nicholas; Goodnow, Christopher; McNamara, Peter; Wu, Hua; Hong, Nancy A; Glynne, Richard

Description

Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of the primary cilium. ALMS1 localizes to centrosomes and ciliary basal bodies, but truncation mutations in Alms1/ALMS1 do not preclude formation of cilia. Here, we show that in vitro knockdown of Alms1 in mice causes stunted cilia on kidney...[Show more]

CollectionsANU Research Publications
Date published: 2007-01-05
Type: Journal article
URI: http://hdl.handle.net/10440/447
http://digitalcollections.anu.edu.au/handle/10440/447
Source: PLoS Genetics
DOI: 10.1371/journal.pgen.0030008

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