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Page 1
Neurological update: hereditary neuropathies.
Kramarz C, Rossor AM. Kramarz C, et al. J Neurol. 2022 Sep;269(9):5187-5191. doi: 10.1007/s00415-022-11164-1. Epub 2022 May 21. J Neurol. 2022. PMID: 35596796 Free PMC article. Review.
In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. ...
In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commone …
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency.
Zhu Y, Lobato AG, Rebelo AP, Canic T, Ortiz-Vega N, Tao X, Syed S, Yanick C, Saporta M, Shy M, Perfetti R, Shendelman S, Züchner S, Zhai RG. Zhu Y, et al. JCI Insight. 2023 May 22;8(10):e164954. doi: 10.1172/jci.insight.164954. JCI Insight. 2023. PMID: 37014713 Free PMC article.
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 …
Sorbitol dehydrogenase (SORD) deficiency has been identified as the most frequent autosomal recessive form of hereditar …
Fructose Metabolism in Cancer.
Krause N, Wegner A. Krause N, et al. Cells. 2020 Dec 8;9(12):2635. doi: 10.3390/cells9122635. Cells. 2020. PMID: 33302403 Free PMC article. Review.
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 Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà 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 B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most frequent recessive form of hereditary neuropathy. ...In patient-derived fibroblasts, we found a complete loss of SORD protein and increased intracellular sorbit …
Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most frequent recessive form of her …
Sorbitol dehydrogenase induction of cancer cell necroptosis and macrophage polarization in the HCC microenvironment suppresses tumor progression.
Lee SY, Kim S, Song Y, Kim N, No J, Kim KM, Seo HR. Lee SY, et al. Cancer Lett. 2022 Dec 28;551:215960. doi: 10.1016/j.canlet.2022.215960. Epub 2022 Oct 14. Cancer Lett. 2022. PMID: 36244575 Free article.
To identify potentially novel HCC therapeutic targets, we performed a secretome analysis using HCC spheroids. Sorbitol dehydrogenase (SORD) was identified as uniquely enriched in the secretomes and lysates derived from HCC spheroids, and high SORD expr …
To identify potentially novel HCC therapeutic targets, we performed a secretome analysis using HCC spheroids. Sorbitol dehydrogena …
Structural organization of the human sorbitol dehydrogenase gene (SORD).
Iwata T, Popescu NC, Zimonjic DB, Karlsson C, Höög JO, Vaca G, Rodriguez IR, Carper D. Iwata T, et al. Genomics. 1995 Mar 1;26(1):55-62. doi: 10.1016/0888-7543(95)80082-w. Genomics. 1995. PMID: 7782086
The primary structure of human sorbitol dehydrogenase (SORD) was determined by cDNA and genomic cloning. ...High levels of SORD transcripts were observed in lens and kidney, as judged from Northern blot analysis....
The primary structure of human sorbitol dehydrogenase (SORD) was determined by cDNA and genomic cloning. ...High levels …
Sucrose Intake Elevates Erythritol in Plasma and Urine in Male Mice.
Ortiz SR, Field MS. Ortiz SR, et al. J Nutr. 2023 Jul;153(7):1889-1902. doi: 10.1016/j.tjnut.2023.05.022. Epub 2023 May 26. J Nutr. 2023. PMID: 37245661 Free article.
OBJECTIVES: In vitro evidence indicates that intracellular erythritol is elevated by high-glucose cell culture conditions and that final step of erythritol synthesis is catalyzed by the enzymes sorbitol dehydrogenase (SORD) and alcohol dehydrogenase (A …
OBJECTIVES: In vitro evidence indicates that intracellular erythritol is elevated by high-glucose cell culture conditions and that final ste …
Serum Sorbitol Dehydrogenase as a Novel Prognostic Factor for Hepatocellular Carcinoma after Surgical Resection.
Jeon D, Choi WM, Kim JS, Jung Y, Lee SY, Seo HR, Kim KM. Jeon D, et al. Cancers (Basel). 2021 Dec 6;13(23):6143. doi: 10.3390/cancers13236143. Cancers (Basel). 2021. PMID: 34885252 Free PMC article.
The majority of patients with hepatocellular carcinoma (HCC) undergoing curative resection experience tumor recurrence. To examine the association between preoperative serum sorbitol dehydrogenase (SORD), a liver-derived enzyme that reflects liver damage, and …
The majority of patients with hepatocellular carcinoma (HCC) undergoing curative resection experience tumor recurrence. To examine the assoc …
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
Furuta Y, Nelson ET, Neumann SM, Phillips JA 3rd, Hamid R, Tinker RJ, Cogan JD, Rives L, Newman JH; Undiagnosed Diseases Network. Furuta Y, et al. Am J Med Genet A. 2023 Dec;191(12):2873-2877. doi: 10.1002/ajmg.a.63383. Epub 2023 Aug 25. Am J Med Genet A. 2023. PMID: 37622199
Exome sequencing (ES) failed to detect deleterious neuromuscular variants. Very recently, biallelic variants in sorbitol dehydrogenase (SORD) were discovered to be a novel cause of inherited neuropathies including CMT2 or distal hereditary motor neuropathy (d …
Exome sequencing (ES) failed to detect deleterious neuromuscular variants. Very recently, biallelic variants in sorbitol dehydroge …
Sorbitol dehydrogenase expression is regulated by androgens in the human prostate.
Szabó Z, Hämäläinen J, Loikkanen I, Moilanen AM, Hirvikoski P, Väisänen T, Paavonen TK, Vaarala MH. Szabó Z, et al. Oncol Rep. 2010 May;23(5):1233-9. doi: 10.3892/or_00000755. Oncol Rep. 2010. PMID: 20372835
Sorbitol is an intermediate in the polyol pathway, which converts from glucose to fructose by sorbitol dehydrogenase (SORD). ...The expression of SORD decreased after castration. Androgen supplementation to the LNCaP prostate cancer cell line le …
Sorbitol is an intermediate in the polyol pathway, which converts from glucose to fructose by sorbitol dehydrogenase ( …
62 results