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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Lu, Hao; Rondon Galeano, Maria C; Ott, Elisabeth; Kaeslin, Geraldine; Kausalya, Jaya P; Kramer, Carina; Ortiz-Brüchle, Nadina; Hilger, Nadescha; Metzis, Vicki; Perkins, Andrew C.; Tunningley, Robert; Whittle, Belinda; Papathanasiou, Panagiotis


Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction. Here, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in mice and zebrafish. DZIP1L localizes to centrioles and to the distal ends of basal bodies, and interacts with septin2, a protein...[Show more]

CollectionsANU Research Publications
Date published: 2017
Type: Journal article
Source: Nature Genetics
DOI: 10.1038/ng.3871


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