Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.

@article{Bialas2009FunctionalIB,
  title={Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.},
  author={Nathan J. Bialas and Peter Nicholas Inglis and Chunmei Li and Jon Francis Robinson and Jeremy David Kirk Parker and M. P. Healey and Erica E Davis and Chrystal D Inglis and Tiina Toivonen and David C. Cottell and Oliver E Blacque and Lynne M Quarmby and Nicholas Katsanis and Michel R Leroux},
  journal={Journal of cell science},
  year={2009},
  volume={122 Pt 5},
  pages={
          611-24
        }
}
Meckel syndrome (MKS) is a ciliopathy characterized by encephalocele, cystic renal disease, liver fibrosis and polydactyly. An identifying feature of MKS1, one of six MKS-associated proteins, is the presence of a B9 domain of unknown function. Using phylogenetic analyses, we show that this domain occurs exclusively within a family of three proteins distributed widely in ciliated organisms. Consistent with a ciliary role, all Caenorhabditis elegans B9-domain-containing proteins, MKS-1 and MKS-1… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 38 CITATIONS

Transcriptional regulation of the ciliopathy gene MKS1/mks-1

VIEW 7 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Sensory perception and aging in model systems: from the outside in.

  • Annual review of cell and developmental biology
  • 2011
VIEW 7 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

  • PLoS biology
  • 2016
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Small GTPases and cilia

  • Protein & Cell
  • 2011
VIEW 6 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

References

Publications referenced by this paper.
SHOWING 1-10 OF 81 REFERENCES

Functional characterization of the C . elegans nephrocystins NPHP - 1 and NPHP - 4 and their role in cilia and male sensory behaviors

A. R. Jauregui, K. C. Nguyen, D. H. Hall, M. M. Barr
  • Exp . Cell Res .
  • 2008

Functional characterization of the C . elegans nephrocystins NPHP - 1 and NPHP - 4 and their role in cilia and male sensory behaviors

A. R. Jauregui, K. C. Nguyen, D. H. Hall, M. M. Barr
  • Exp . Cell Res .
  • 2008

Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling.

  • Proceedings of the National Academy of Sciences of the United States of America
  • 2008

Similar Papers