Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

@inproceedings{Enns2014MutationsIN,
  title={Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway},
  author={Gregory M. Enns and Vandana Shashi and Matthew N. Bainbridge and Michael J Gambello and Farah R. Zahir and Thomas Bast and Rebecca A. Crimian and Kelly Schoch and Julia C K Platt and Rachel C Cox and J A Bernstein and Mena T Scavina and Rhonda S. Walter and Audrey L Bibb and Melanie Jones and Madhuri R. Hegde and Brett H Graham and Anna C. Need and Angelica Oviedo and Christian P Schaaf and Sean Boyle and Atul J. Butte and Rong Chen and Michael James Clark and Rajini Haraksingh and Tina M. Cowan and Ping He and Sylvie Langlois and Huda Y. Zoghbi and Michael P. Snyder and Richard A. Gibbs and Hudson H. Freeze and David K. Goldstein},
  year={2014}
}
Purpose: The endoplasmic reticulum-associated degradation (ERAD) pathway is responsible for the translocation of misfolded proteins across the ER membrane into the cytosol for subsequent degradation by the proteasome. In order to understand the spectrum of clinical and molecular findings in a complex neurological syndrome, we studied a series of eight patients with inherited deficiency of N-glycanase 1 (NGLY1), a novel disorder of cytosolic ERAD dysfunction. Methods: Whole-genome, whole-exome… CONTINUE READING
Highly Cited
This paper has 19 citations. REVIEW CITATIONS

Citations

Publications citing this paper.
Showing 1-10 of 11 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 36 references

Similar Papers

Loading similar papers…