Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Disturbances in IP3 receptor-mediated release of Ca2+ from the endoplasmatic reticulum are associated with neurodegenerative disease. Here, the authors identify in four families with hereditary spastic paraplegia biallelic mutations in RNF170 that associate with increased basal levels of IP3 recepto...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2019-10-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-019-12620-9 |