Article

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

2023-12-07

Abstract excerpt

Biallelic SORD mutations cause one of the most frequent forms of recessive hereditary neuropathy, estimated to affect approximately 10,000 patients in North America and Europe alone. Pathogenic SORD loss-of-function changes in the encoded enzyme sorbitol dehydrogenase result in abnormally high sorbitol levels in cells and serum. How sorbitol accumulation leads to peripheral neuropathy remains to be elucidated. A...

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Literature Corpus work: 9bd9f81d-5f80-547b-9fab-97f671dc84e0
DOI: 10.1101/2023.12.05.570001

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