| Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings. | Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings.
Kabeloglu V, Aksoy S, Soysal A. | 02/20/2024 |
| Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement. | Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.
Li L, Xie Y, Zeng S, Li X, Lin Z, Huang S, Zhao H, Cao W, Liu L, Liu J, Rong P, Zhang R. | 12/22/2023 |
| Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy. | Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
Alluqmani M, Basit S., Free PMC Article | 04/30/2022 |
| Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients. | Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
Laššuthová P, Mazanec R, Staněk D, Sedláčková L, Plevová B, Haberlová J, Seeman P., Free PMC Article | 11/22/2021 |
| Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease. | Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
Yuan RY, Ye ZL, Zhang XR, Xu LQ, He J., Free PMC Article | 10/9/2021 |
| ALR2 rs759853 and SDH rs2055858 polymorphisms were respectively associated with a higher and lower risk of diabetic retinopathy. | Polymorphisms in Sorbitol-Aldose Reductase (Polyol) Pathway Genes and Their Influence on Risk of Diabetic Retinopathy Among Han Chinese.
Li W, Chen S, Mei Z, Zhao F, Xiang Y., Free PMC Article | 02/8/2020 |
| SDH gene expression was increased by hypoxia and oxidative stress, but not extracellular hyperosmolarity. Hyperosmolarity and hypoxia did not alter the SDH protein level. | Osmotic expression of aldose reductase in retinal pigment epithelial cells: involvement of NFAT5.
Winges A, Garcia TB, Prager P, Wiedemann P, Kohen L, Bringmann A, Hollborn M. | 06/3/2017 |
| One of the most striking changes involved sorbitol dehydrogenase, a key enzyme in the polyol pathway. Validation studies revealed dramatically increased sorbitol dehydrogenase concentrations and activity in adenomas and cancer cell lines, along with important changes in the expression of other enzymes in the same (AKR1B1) and related (KHK) pathways. | Sorbitol dehydrogenase overexpression and other aspects of dysregulated protein expression in human precancerous colorectal neoplasms: a quantitative proteomics study.
Uzozie A, Nanni P, Staiano T, Grossmann J, Barkow-Oesterreicher S, Shay JW, Tiwari A, Buffoli F, Laczko E, Marra G., Free PMC Article | 01/10/2015 |
| The SDH level was significantly decreased in patients with proliferative compared with non-proliferative retinopathy in both insulin and oral diabetic groups. | Aldo-keto reductase and sorbitol dehydrogenase enzymes in Egyptian diabetic patients with and without proliferative diabetic retinopathy.
Aldebasi Y, El-Gendy SM, Kamel A, Mohieldein A. | 12/21/2013 |
| Thus, our findings suggest that the -888G > C polymorphism in the SORD gene is not involved in the pathogenesis of diabtic retinopathy in type 2 diabetes. | Association study of sorbitol dehydrogenase -888G>C polymorphism with type 2 diabetic retinopathy in Caucasian-Brazilians.
Ferreira FN, Crispim D, Canani LH, Gross JL, dos Santos KG. | 12/14/2013 |
| Meta-analysis of gene-disease association. (HuGE Navigator) | Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
Johnatty SE, Beesley J, Chen X, Macgregor S, Duffy DL, Spurdle AB, deFazio A, Gava N, Webb PM, Rossing MA, Doherty JA, Goodman MT, Lurie G, Thompson PJ, Wilkens LR, Ness RB, Moysich KB, Chang-Claude J, Wang-Gohrke S, Cramer DW, Terry KL, Hankinson SE, Tworoger SS, Garcia-Closas M, Yang H, Lissowska J, Chanock SJ, Pharoah PD, Song H, Whitemore AS, Pearce CL, Stram DO, Wu AH, Pike MC, Gayther SA, Ramus SJ, Menon U, Gentry-Maharaj A, Anton-Culver H, Ziogas A, Hogdall E, Kjaer SK, Hogdall C, Berchuck A, Schildkraut JM, Iversen ES, Moorman PG, Phelan CM, Sellers TA, Cunningham JM, Vierkant RA, Rider DN, Goode EL, Haviv I, Chenevix-Trench G, Ovarian Cancer Association Consortium, Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer)., Free PMC Article | 09/15/2010 |
| The expression of SORD is regulated by androgens in human prostate. In prostate cancer, increased immunostaining was associated with high Gleason patterns and high serum PSA concentrations. | 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. | 07/19/2010 |
| The zinc-finger protein ZAC1 is up-regulated under hypertonic stress and negatively regulates expression of sorbitol dehydrogenase, allowing for accumulation of sorbitol as a compatible organic osmolyte. | ZAC1 is up-regulated by hypertonicity and decreases sorbitol dehydrogenase expression, allowing accumulation of sorbitol in kidney cells.
Lanaspa MA, Andres-Hernando A, Rivard CJ, Dai Y, Li N, Berl T., Free PMC Article | 01/21/2010 |
| Results compare the catalytic mechanism of liver sorbitol dehydrogenase with wild-type and Glu154-->Cys forms of yeast xylitol dehydrogenase. | Catalytic mechanism of Zn2+-dependent polyol dehydrogenases: kinetic comparison of sheep liver sorbitol dehydrogenase with wild-type and Glu154-->Cys forms of yeast xylitol dehydrogenase.
Klimacek M, Hellmer H, Nidetzky B., Free PMC Article | 01/21/2010 |
| crystals of sorbitol dehydrogenase belong to the monoclinic C2 space group, with unit-cell parameters a = 145.9, b = 52.3, c = 169.0 A, beta = 101.8 degrees | Expression, purification and preliminary crystallographic analysis of human sorbitol dehydrogenase.
Darmanin C, Iwata T, Carper DA, Sparrow LG, Chung RP, El-Kabbani O. | 01/21/2010 |
| Sorbitol dehydrogenase (SDH), a member of the medium-chain dehydrogenase/reductase protein family and the second enzyme of the polyol pathway of glucose metabolism, converts sorbitol to fructose strictly using NAD(+) as coenzyme. | Sorbitol dehydrogenase: structure, function and ligand design.
El-Kabbani O, Darmanin C, Chung RP. | 01/21/2010 |