Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy
Author:
Funder
University of California Berkeley
NIH
Publisher
Elsevier BV
Reference3 articles.
1. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes;Cortese;Nat Genet.,2020
2. Saporta MA, Dang V, Volfson D, Zou B, Xie XS, Adebola A, Liem RK, Shy M, Dimos JT. Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. Exp Neurol. 2015 Jan;263:190-9. doi: 10.1016/j.expneurol.2014.10.005. Epub 2014 Oct 30. PMID: 25448007; PMCID: PMC4262589.
3. Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency;Zhu;JCI Insight.,2023
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