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Polycystic kidney disease

DZIP1L defines a new functional zip code for autosomal recessive PKD

Nature Reviews Nephrology volume 13, pages 519–520 (2017)Cite this article

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New findings demonstrate a link between mutations in DZIP1L and an autosomal recessive polycystic kidney disease (ARPKD)-like phenotype. Rather than focus on DZIP1L as a second genetic locus for ARPKD, we suggest these data identify the ciliary transition zone as a functional domain central to the pathogenesis of ARPKD.

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Figure 1: The primary cilium basal body.

References

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Authors and Affiliations

  1. Erum A. Hartung is at the Division of Nephrology, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, 3401 Civic Center Boulevard; Philadelphia, Pennsylvania 19104, USA.,

    Erum A. Hartung

  2. Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, 3401 Civic Center Boulevard,

    Erum A. Hartung

  3. Lisa M. Guay-Woodford is at the Center for Translational Science, Children's National Health System, 6 th Floor Main Hospital, Center 6, 111 Michigan Ave NW, Washington, District of Columbia 20010, USA.,

    Lisa M. Guay-Woodford

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  1. Erum A. Hartung
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  2. Lisa M. Guay-Woodford
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Correspondence to Lisa M. Guay-Woodford.

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The authors declare no competing financial interests.

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Hartung, E., Guay-Woodford, L. DZIP1L defines a new functional zip code for autosomal recessive PKD. Nat Rev Nephrol 13, 519–520 (2017). https://doi.org/10.1038/nrneph.2017.102

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