Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency

Sorbitol dehydrogenase (SORD) deficiency has been identified as the most frequent autosomal recessive form of hereditary neuropathy. Loss of SORD causes high sorbitol levels in tissues due to the inability to convert sorbitol to fructose in the 2-step polyol pathway, leading to degenerative neuropat...

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Detalles Bibliográficos
Autores principales: Zhu, Yi, Lobato, Amanda G., Rebelo, Adriana P., Canic, Tijana, Ortiz-Vega, Natalie, Tao, Xianzun, Syed, Sheyum, Yanick, Christopher, Saporta, Mario, Shy, Michael, Perfetti, Riccardo, Shendelman, Shoshana, Züchner, Stephan, Zhai, R. Grace
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10322690/
https://www.ncbi.nlm.nih.gov/pubmed/37014713
http://dx.doi.org/10.1172/jci.insight.164954

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