Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances

@inproceedings{Vollrath2014LossOF,
  title={Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances},
  author={Jan Tilmann Vollrath and Antonio Sechi and A Dreser and Istvan Katona and Dominik Wiemuth and J{\"o}rg Vervoorts and Michael Dohmen and Arunseshan Chandrasekar and J Prause and Eva Brauers and Christopher Marvin Jesse and Joachim Weis and Anand Goswami},
  booktitle={Cell Death and Disease},
  year={2014}
}
Intracellular accumulations of altered, misfolded proteins in neuronal and other cells are pathological hallmarks shared by many neurodegenerative diseases including amyotrophic lateral sclerosis (ALS). Mutations in several genes give rise to familial forms of ALS. Mutations in Sigma receptor 1 have been found to cause a juvenile form of ALS and frontotemporal lobar degeneration (FTLD). We recently described altered localization, abnormal modification and loss of function of SigR1 in sporadic… CONTINUE READING