Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; Bai, YH; Bis-Brewer, DM; Bugiardini, E; Buglo, E; Danzi, MC; Feely, SME; Athanasiou-Fragkouli, A; Haridy, NA; Isasi, R; Khan, A; Laura, M; Magri, S; Pipis, M; Pisciotta, C; Powell, E; Rossor, AM; Saveri, P; Sowden, JE; Tozza, S; Vandrovcova, J; Dallman, J; Grignani, E; Marchioni, E; Scherer, SS; Tang, BS; Lin, ZQ; Al-Ajmi, A; Schule, R; Synofzik, M; Maisonobe, T; Stojkovic, T; Auer-Grumbach, M; Abdelhamed, MA; Hamed, SA; Zhang, RX; Manganelli, F; Santoro, L; Taroni, F; Pareyson, D; Houlden, H; Herrmann, DN; Reilly, MM; Shy, ME; Zhai, RG; Zuchner, S

Zuchner, S (corresponding author), Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA.; Zuchner, S (corresponding author), Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA.; Zhai, RG (corresponding author), Univ Miami, Miller Sch Med, Dept Mol & Cellular Pharmacol, Miami, FL 33136 USA.; Zhai, RG (corresponding author), Univ Miami, Miller Sch Med, Program Mol & Cellular Pharmacol, Miami, FL 33136 USA.

NATURE GENETICS, 2020; 52 (5): 473

Abstract

Biallelic mutations in the sorbitol dehydrogenase gene SORD are identified as a common cause of hereditary neuropathy. Functional studies suggest that......

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