• DOI:10.1093/HMG/DDW139
Corpus ID: 37961608

ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons.

@article{Fowler2016ERshapingPA,
  title={ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons.},
  author={Philippa C. Fowler and N. C. O'Sullivan},
  journal={Human molecular genetics},
  year={2016},
  volume={25 13},
  pages={
          2827-2837
        }
}

Philippa C. Fowler, N. C. O'Sullivan

Published 2016

Medicine, Biology

Human molecular genetics

Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by degeneration of the longest motor neurons in the corticospinal tract, leading to muscle weakness and spasticity of the lower limbs. Pathogenic variants in genes encoding proteins that shape the endoplasmic-reticulum (ER) network are a leading cause of HSP, however, the mechanisms by which loss of ER-shaping proteins underpin degeneration of selective neurons in HSP remain poorly understood. To… CONTINUE READING

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