Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.

@article{Hsiao2009Ahi1WH,
  title={Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.},
  author={Yi-Chun Hsiao and Zachary J Tong and Jennifer E. Westfall and Jeffrey G. Ault and Patrick S. Page-McCaw and Russell J Ferland},
  journal={Human molecular genetics},
  year={2009},
  volume={18 20},
  pages={
          3926-41
        }
}
The primary non-motile cilium, a membrane-ensheathed, microtubule-bundled organelle, extends from virtually all cells and is important for development. Normal functioning of the cilium requires proper axoneme assembly, membrane biogenesis and ciliary protein localization, in tight coordination with the intraflagellar transport system and vesicular trafficking. Disruptions at any level can induce severe alterations in cell function, giving rise to a myriad of human genetic diseases known as… CONTINUE READING

Similar Papers

Citations

Publications citing this paper.
SHOWING 1-10 OF 55 CITATIONS, ESTIMATED 72% COVERAGE

Zebrafish models of cystic kidney disease related ciliopathies

VIEW 21 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Primary cilia proteins: ciliary and extraciliary sites and functions

  • Cellular and Molecular Life Sciences
  • 2017
VIEW 5 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate

  • Molecules and cells
  • 2017
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

  • Cellular and Molecular Life Sciences
  • 2011
VIEW 6 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

Trafficking in and to the primary cilium

VIEW 5 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1.

  • The Journal of neuroscience : the official journal of the Society for Neuroscience
  • 2010
VIEW 18 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation.

  • The Journal of neuroscience : the official journal of the Society for Neuroscience
  • 2013
VIEW 5 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

Expression changes of hypothalamic Ahi1 in mice brain: implication in sensing insulin signaling

  • Molecular Biology Reports
  • 2012
VIEW 1 EXCERPT
CITES BACKGROUND
HIGHLY INFLUENCED

FILTER CITATIONS BY YEAR

2010
2019

CITATION STATISTICS

  • 11 Highly Influenced Citations

  • Averaged 5 Citations per year from 2017 through 2019

References

Publications referenced by this paper.
SHOWING 1-10 OF 75 REFERENCES

Overview of structure and function of mammalian cilia.

  • Annual review of physiology
  • 2007
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

Assembly of primary cilia.

  • Developmental dynamics : an official publication of the American Association of Anatomists
  • 2008