Similar articles for PMID: 20547159

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1

Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.

Segade F. Segade F. FEBS Lett. 2010 Jul 16;584(14):2990-4. doi: 10.1016/j.febslet.2010.06.011. Epub 2010 Jun 12. FEBS Lett. 2010. PMID: 20547159 Free article. Review.

2

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.

Callewaert BL, Loeys BL, Casteleyn C, Willaert A, Dewint P, De Backer J, Sedlmeier R, Simoens P, De Paepe AM, Coucke PJ. Callewaert BL, et al. Genesis. 2008 Aug;46(8):385-9. doi: 10.1002/dvg.20409. Genesis. 2008. PMID: 18693279

3

Mutations in the SLC2A10 gene cause arterial abnormalities in mice.

Cheng CH, Kikuchi T, Chen YH, Sabbagha NG, Lee YC, Pan HJ, Chang C, Chen YT. Cheng CH, et al. Cardiovasc Res. 2009 Feb 1;81(2):381-8. doi: 10.1093/cvr/cvn319. Epub 2008 Nov 21. Cardiovasc Res. 2009. PMID: 19028722

4

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Coucke PJ, et al. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550171 Free article.

5

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.

Lee YC, Huang HY, Chang CJ, Cheng CH, Chen YT. Lee YC, et al. Hum Mol Genet. 2010 Oct 1;19(19):3721-33. doi: 10.1093/hmg/ddq286. Epub 2010 Jul 16. Hum Mol Genet. 2010. PMID: 20639396

6

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

Boel A, Veszelyi K, Németh CE, Beyens A, Willaert A, Coucke P, Callewaert B, Margittai É. Boel A, et al. Antioxid Redox Signal. 2021 Apr 10;34(11):875-889. doi: 10.1089/ars.2019.7843. Epub 2019 Nov 14. Antioxid Redox Signal. 2021. PMID: 31621376

7

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Callewaert BL, et al. Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623. Hum Mutat. 2008. PMID: 17935213

8

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.

Boel A, Burger J, Vanhomwegen M, Beyens A, Renard M, Barnhoorn S, Casteleyn C, Reinhardt DP, Descamps B, Vanhove C, van der Pluijm I, Coucke P, Willaert A, Essers J, Callewaert B. Boel A, et al. Hum Mol Genet. 2020 Jun 3;29(9):1476-1488. doi: 10.1093/hmg/ddaa071. Hum Mol Genet. 2020. PMID: 32307537

9

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS. Faiyaz-Ul-Haque M, et al. Atherosclerosis. 2009 Apr;203(2):466-71. doi: 10.1016/j.atherosclerosis.2008.07.026. Epub 2008 Aug 5. Atherosclerosis. 2009. PMID: 18774132

10

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

Zoppi N, Chiarelli N, Cinquina V, Ritelli M, Colombi M. Zoppi N, et al. Hum Mol Genet. 2015 Dec 1;24(23):6769-87. doi: 10.1093/hmg/ddv382. Epub 2015 Sep 16. Hum Mol Genet. 2015. PMID: 26376865 Free PMC article.

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