Functional study of SCCD pathogenic gene UBIAD1 (Review)
- Authors:
- Jumin Xie
- Lingxing Li
-
Affiliations: Medical School, Hubei Polytechnic University, Huangshi, Hubei 435003, P.R. China, Department of Cardiovascular Medicine, Tai'an City Central Hospital, Tai'an, Shandong 271000, P.R. China - Published online on: August 6, 2021 https://doi.org/10.3892/mmr.2021.12345
- Article Number: 706
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Copyright: © Xie et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
This article is mentioned in:
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|
Weiss JS: Schnyder corneal dystrophy. Curr Opin Ophthalmol. 20:292–298. 2009. View Article : Google Scholar : PubMed/NCBI | |
|
Dudakova L, Skalicka P, Davidson AE and Liskova P: Coincidental occurrence of Schnyder corneal dystrophy and posterior polymorphous corneal dystrophy type 3. Cornea. 38:758–760. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Van Went JM and Wibaut F: A strange inherited corneal alteration. Niederl Tijdschr Geneesk. 68:2996–2997. 1924.(In Dutch). | |
|
Schnyder WF: Report about a new type of familial corneal disorder. Schweiz Med Wschr. 10:559–571. 1929.(In German). | |
|
Schnyder WF: Disk-like inherited crytstalline inclusions in the corneal center. KIin Monatsbl Augenheilkd. 103:494–502. 1939.(In German). | |
|
Glees M: Corneal crystalline dystrophy. Klin Monbl Augenheilkd Augenarztl Fortbild. 131:721–724. 1957.(In German). PubMed/NCBI | |
|
Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, et al: Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One. 2:e6852007. View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, et al: Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci. 48:5007–5012. 2007. View Article : Google Scholar : PubMed/NCBI | |
|
Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB and Aldave AJ: Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis. 13:1777–1782. 2007.PubMed/NCBI | |
|
McGarvey TW, Nguyen T, Tomaszewski JE, Monson FC and Malkowicz SB: Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder. Oncogene. 20:1042–1051. 2001. View Article : Google Scholar : PubMed/NCBI | |
|
McGarvey TW, Nguyen T, Puthiyaveettil R, Tomaszewski JE and Malkowicz SB: TERE1, a novel gene affecting growth regulation in prostate carcinoma. Prostate. 54:144–155. 2003. View Article : Google Scholar : PubMed/NCBI | |
|
McGarvey TW, Nguyen TB and Malkowicz SB: An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation. J Cell Biochem. 95:419–428. 2005. View Article : Google Scholar : PubMed/NCBI | |
|
Garner A and Tripathi RC: Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure. Br J Ophthalmol. 56:400–408. 1972. View Article : Google Scholar : PubMed/NCBI | |
|
Bron AJ, Williams HP and Carruthers ME: Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia. Br J Ophthalmol. 56:383–399. 1972. View Article : Google Scholar : PubMed/NCBI | |
|
Michaels RG: Corneal crystalline dystrophy of Schnyder. Arch Ophthalmol. 92:64–65. 1974. View Article : Google Scholar : PubMed/NCBI | |
|
Thiel HJ, Voigt GJ and Parwaresch MR: Crystalline corneal dystrophy (Schnyder) in the presence of familial type IIa hyperlipoproteinaemia (author's transl). Klin Monbl Augenheilkd. 171:678–684. 1977.(In German). PubMed/NCBI | |
|
Burns RP, Connor W and Gipson I: Cholesterol turnover in hereditary crystalline corneal dystrophy of Schnyder. Trans Am Ophthalmol Soc. 76:184–196. 1978.PubMed/NCBI | |
|
Ingraham HJ, Perry HD, Donnenfeld ED and Donaldson DD: Progressive Schnyder's corneal dystrophy. Ophthalmology. 100:1824–1827. 1993. View Article : Google Scholar : PubMed/NCBI | |
|
McCarthy M, Innis S, Dubord P and White V: Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition. Ophthalmology. 101:895–901. 1994. View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS: Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature. Ophthalmology. 103:465–473. 1996. View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS: More on Schnyder corneal dystrophy. Ophthalmology. 116:22602009. View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, et al: Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Am J Med Genet A. 146A:271–283. 2008. View Article : Google Scholar : PubMed/NCBI | |
|
Lisch W, Weidle EG, Lisch C, Rice T, Beck E and Utermann G: Schnyder's dystrophy. Progression and metabolism. Ophthalmic Paediatr Genet. 7:45–56. 1986. View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS: Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc. 105:616–648. 2007.PubMed/NCBI | |
|
Jing Y and Wang L: Morphological evaluation of Schnyder's crystalline corneal dystrophy by laser scanning confocal microscopy and fourier-domain optical coherence tomography. Clin Exp Ophthalmol. 37:308–312. 2009. View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, et al: The IC3D classification of the corneal dystrophies. Cornea. 27 (Suppl 2):S1–S83. 2008.(In English, Spanish). View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS: Corneal dystrophy classification. Ophthalmology. 116:1013–1014. 2009. View Article : Google Scholar : PubMed/NCBI | |
|
Auw-Hädrich C and Witschel H: Corneal dystrophies in the light of modern molecular genetic research. Ophthalmologe. 99:418–426. 2002.(In German). View Article : Google Scholar : PubMed/NCBI | |
|
Riebeling P, Polz S, Tost F, Weiss JS, Kuivaniemi H and Hoeltzenbein M: Schnyder's crystalline corneal dystrophy. Further narrowing of the linkage interval at chromosome 1p34.1-p36? Ophthalmologe. 100:979–983. 2003.(In German). View Article : Google Scholar : PubMed/NCBI | |
|
Shearman AM, Hudson TJ, Andresen JM, Wu X, Sohn RL, Haluska F, Housman DE and Weiss JS: The gene for Schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36. Hum Mol Genet. 5:1667–1672. 1996. View Article : Google Scholar : PubMed/NCBI | |
|
Theendakara V, Tromp G, Kuivaniemi H, White PS, Panchal S, Cox J, Winters RS, Riebeling P, Tost F, Hoeltzenbein M, et al: Fine mapping of the Schnyder's crystalline corneal dystrophy locus. Hum Genet. 114:594–600. 2004. View Article : Google Scholar : PubMed/NCBI | |
|
Aldave AJ, Rayner SA, Principe AH, Affeldt JA, Katsev D and Yellore VS: Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy. Mol Vis. 11:713–716. 2005.PubMed/NCBI | |
|
Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, et al: The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes. Hum Mutat. 34:317–329. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Al-Ghadeer H, Mohamed JY and Khan AO: Schnyder corneal dystrophy in a Saudi Arabian family with heterozygous UBIAD1 mutation (p.L121F). Middle East Afr J Ophthalmol. 18:61–64. 2011. View Article : Google Scholar : PubMed/NCBI | |
|
Du C, Li Y, Dai L, Gong L and Han C: A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. Mol Vis. 17:2685–2692. 2011.PubMed/NCBI | |
|
Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, et al: UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. PLoS One. 5:e107602010. View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS, Wiaux C, Yellore V, Raber I, Eagle R, Mequio M and Aldave A: Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. Cornea. 29:777–780. 2010. View Article : Google Scholar : PubMed/NCBI | |
|
Mehta JS, Vithana EN, Venkataraman D, Venkatraman A, Yong VH, Aung T and Tan DT: Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. Br J Ophthalmol. 93:926–931. 2009. View Article : Google Scholar : PubMed/NCBI | |
|
Jing Y, Liu C, Xu J and Wang L: A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. Mol Vis. 15:1463–1469. 2009.PubMed/NCBI | |
|
Dong F, Jin X, Boettler MA, Sciulli H, Abu-Asab M, Del Greco C, Wang S, Hu YC, Campos MM, Jackson SN, et al: A mouse model of Schnyder corneal dystrophy with the N100S point mutation. Sci Rep. 8:102192018. View Article : Google Scholar : PubMed/NCBI | |
|
Nakagawa K, Hirota Y, Sawada N, Yuge N, Watanabe M, Uchino Y, Okuda N, Shimomura Y, Suhara Y and Okano T: Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme. Nature. 468:117–121. 2010. View Article : Google Scholar : PubMed/NCBI | |
|
Vos M, Esposito G, Edirisinghe JN, Vilain S, Haddad DM, Slabbaert JR, Van Meensel S, Schaap O, De Strooper B, Meganathan R, et al: Vitamin K2 is a mitochondrial electron carrier that rescues pink1 deficiency. Science. 336:1306–1310. 2012. View Article : Google Scholar : PubMed/NCBI | |
|
Mugoni V, Postel R, Catanzaro V, De Luca E, Turco E, Digilio G, Silengo L, Murphy MP, Medana C, Stainier DY, et al: Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis. Cell. 152:504–518. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Wang X, Wang D, Jing P, Wu Y, Xia Y, Chen M and Hong L: A novel Golgi retention signal RPWS for tumor suppressor UBIAD1. PLoS One. 8:e720152013. View Article : Google Scholar : PubMed/NCBI | |
|
Huang Y and Hu Z: UBIAD1 protects against oxygen-glucose deprivation/reperfusion-induced multiple subcellular organelles injury through PI3K/AKT pathway in N2A cells. J Cell Physiol. 233:7480–7496. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Jiang SY, Tang JJ, Xiao X, Qi W, Wu S, Jiang C, Hong J, Xu J, Song BL and Luo J: Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase. PLoS Genet. 15:e10082892019. View Article : Google Scholar : PubMed/NCBI | |
|
Fredericks WJ, Yin H, Lal P, Puthiyaveettil R and Malkowicz SB, Fredericks NJ, Tomaszewski J, Rauscher FJ III and Malkowicz SB: Ectopic expression of the TERE1 (UBIAD1) protein inhibits growth of renal clear cell carcinoma cells: Altered metabolic phenotype associated with reactive oxygen species, nitric oxide and SXR target genes involved in cholesterol and lipid metabolism. Int J Oncol. 43:638–652. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Fredericks WJ, McGarvey T, Wang H, Lal P, Puthiyaveettil R, Tomaszewski J, Sepulveda J, Labelle E, Weiss JS, Nickerson ML, et al: The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: Implications for tumor progression. DNA Cell Biol. 30:851–864. 2011. View Article : Google Scholar : PubMed/NCBI | |
|
Xia Y, Midoun SZ, Xu Z and Hong L: Heixuedian (heix), a potential melanotic tumor suppressor gene, exhibits specific spatial and temporal expression pattern during Drosophila hematopoiesis. Dev Biol. 398:218–230. 2015. View Article : Google Scholar : PubMed/NCBI | |
|
Dragh MA, Xu Z, Al-Allak ZS and Hong L: Vitamin K2 prevents lymphoma in Drosophila. Sci Rep. 7:170472017. View Article : Google Scholar : PubMed/NCBI | |
|
Fredericks WJ, Sepulveda J, Lai P, Tomaszewski JE, Lin MF, McGarvey T, Rauscher FJ III and Malkowicz SB: The tumor suppressor TERE1 (UBIAD1) prenyltransferase regulates the elevated cholesterol phenotype in castration resistant prostate cancer by controlling a program of ligand dependent SXR target genes. Oncotarget. 4:1075–1092. 2013. View Article : Google Scholar : PubMed/NCBI | |
|
Morales CR, Grigoryeva LS, Pan X, Bruno L, Hickson G, Ngo MH, McMaster CR, Samuels ME and Pshezhetsky AV: Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression. Mol Genet Metab Rep. 1:407–411. 2014. View Article : Google Scholar : PubMed/NCBI | |
|
Schumacher MM, Jun DJ, Johnson BM and DeBose-Boyd RA: UbiA prenyltransferase domain-containing protein-1 modulates HMG-CoA reductase degradation to coordinate synthesis of sterol and nonsterol isoprenoids. J Biol Chem. 293:312–323. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Schumacher MM, Jun DJ, Jo Y, Seemann J and DeBose-Boyd RA: Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and Golgi. J Lipid Res. 57:1286–1299. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Schumacher MM, Elsabrouty R, Seemann J, Jo Y and DeBose-Boyd RA: The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase. Elife. 4:e055602015. View Article : Google Scholar : PubMed/NCBI | |
|
Johnson BM and DeBose-Boyd RA: Underlying mechanisms for sterol-induced ubiquitination and ER-associated degradation of HMG CoA reductase. Semin Cell Dev Biol. 81:121–128. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Li W: Bringing bioactive compounds into membranes: The UbiA superfamily of intramembrane aromatic prenyltransferases. Trends Biochem Sci. 41:356–370. 2016. View Article : Google Scholar : PubMed/NCBI | |
|
Jo Y, Hamilton JS, Hwang S, Garland K, Smith GA, Su S, Fuentes I, Neelam S, Thompson BM, McDonald JG and DeBose-Boyd RA: Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice. Elife. 8:e443962019. View Article : Google Scholar : PubMed/NCBI | |
|
Jun DJ, Schumacher MM, Hwang S, Kinch LN, Grishin NV and DeBose-Boyd RA: Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation. J Lipid Res. 61:746–757. 2020. View Article : Google Scholar : PubMed/NCBI | |
|
Wu CW, Lin PY, Liu YF, Liu TC, Lin MW, Chen WM, Lee FL, Lee SM and Hsu WM: Central corneal mosaic opacities in Schnyder's crystalline dystrophy. Ophthalmology. 112:650–653. 2005. View Article : Google Scholar : PubMed/NCBI | |
|
Köksal M, Kargi S, Gürelik G and Akata F: Phototherapeutic keratectomy in Schnyder crystalline corneal dystrophy. Cornea. 23:311–313. 2004. View Article : Google Scholar : PubMed/NCBI | |
|
Paparo LG, Rapuano CJ, Raber IM, Grewal S, Cohen EJ and Laibson PR: Phototherapeutic keratectomy for Schnyder's crystalline corneal dystrophy. Cornea. 19:343–347. 2000. View Article : Google Scholar : PubMed/NCBI | |
|
Vesaluoma MH, Linna TU, Sankila EM, Weiss JS and Tervo TM: In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy. Ophthalmology. 106:944–951. 1999. View Article : Google Scholar : PubMed/NCBI | |
|
Dinh R, Rapuano CJ, Cohen EJ and Laibson PR: Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy. Ophthalmology. 106:1490–1497. 1999. View Article : Google Scholar : PubMed/NCBI | |
|
Meier U, Anastasi C, Failla F and Simona F: Possibilities of therapeutic photokeratotomy with the excimer laser in treatment of Schnyder crystalline corneal dystrophy. Klin Monbl Augenheilkd. 212:405–406. 1998.(In German). View Article : Google Scholar : PubMed/NCBI | |
|
Battisti C, Dotti MT, Malandrini A, Pezzella F, Bardelli AM and Federico A: Schnyder corneal crystalline dystrophy: Description of a new family with evidence of abnormal lipid storage in skin fibroblasts. Am J Med Genet. 75:35–39. 1998. View Article : Google Scholar : PubMed/NCBI | |
|
Takeuchi T, Furihata M, Heng HH, Sonobe H and Ohtsuki Y: Chromosomal mapping and expression of the human B120 gene. Gene. 213:189–193. 1998. View Article : Google Scholar : PubMed/NCBI | |
|
Kohnen T, Pelton RW and Jones DB: Schnyder corneal dystrophy and juvenile, systemic hypercholesteremia. Klin Monbl Augenheilkd. 211:135–137. 1997.(In German). View Article : Google Scholar : PubMed/NCBI | |
|
Santo RM, Yamaguchi T, Kanai A, Okisaka S and Nakajima A: Clinical and histopathologic features of corneal dystrophies in Japan. Ophthalmology. 102:557–567. 1995. View Article : Google Scholar : PubMed/NCBI | |
|
Chern KC and Meisler DM: Disappearance of crystals in Schnyder's crystalline corneal dystrophy after epithelial erosion. Am J Ophthalmol. 120:802–803. 1995. View Article : Google Scholar : PubMed/NCBI | |
|
Weiss JS: Schnyder's dystrophy of the cornea. A swede-finn connection. Cornea. 11:93–101. 1992. View Article : Google Scholar : PubMed/NCBI | |
|
Brownstein S, Jackson WB and Onerheim RM: Schnyder's crystalline corneal dystrophy in association with hyperlipoproteinemia: Histopathological and ultrastructural findings. Can J Ophthalmol. 26:273–279. 1991.PubMed/NCBI | |
|
Rodrigues MM, Kruth HS, Krachmer JH, Vrabec MP and Blanchette-Mackie J: Cholesterol localization in ultrathin frozen sections in Schnyder's corneal crystalline dystrophy. Am J Ophthalmol. 110:513–517. 1990. View Article : Google Scholar : PubMed/NCBI | |
|
Freddo TF, Polack FM and Leibowitz HM: Ultrastructural changes in the posterior layers of the cornea in Schnyder's crystalline dystrophy. Cornea. 8:170–177. 1989. View Article : Google Scholar : PubMed/NCBI | |
|
Wakita M, Kanai A and Nakajima A: Schnyder crystalline dystrophy. Nippon Ganka Gakkai Zasshi. 93:676–681. 1989.(In Japanese). PubMed/NCBI | |
|
Kompf J, Ritter H, Lisch W, Weidle EG and Baur MP: Linkage analysis in granular corneal dystrophy (Groenouw I), Schnyder's crystalline corneal dystrophy, and reis-bucklers' corneal dystrophy. Graefes Arch Clin Exp Ophthalmol. 227:538–540. 1989. View Article : Google Scholar : PubMed/NCBI | |
|
Rodrigues MM, Kruth HS, Krachmer JH and Willis R: Unesterified cholesterol in Schnyder's corneal crystalline dystrophy. Am J Ophthalmol. 104:157–163. 1987. View Article : Google Scholar : PubMed/NCBI | |
|
Roth AM, Ekins MB, Waring GO III, Gupta LM and Rosenblatt LS: Oval corneal opacities in beagles. III. Histochemical demonstration of stromal lipids without hyperlipidemia. Invest Ophthalmol Vis Sci. 21:95–106. 1981.PubMed/NCBI | |
|
Bec P, Arne JL, Secheyron P, Poitevin B and Hemous JD: Schnyder's crystalline dystrophy of the cornea. Bull Soc Ophtalmol Fr. 79:1005–1007. 1979.(In French). PubMed/NCBI | |
|
Ehlers N and Matthiessen ME: Hereditary crystalline corneal dystrophy of Schnyder. Acta Ophthalmol (Copenh). 51:316–324. 1973. View Article : Google Scholar : PubMed/NCBI | |
|
Delogu A: Contribution to the knowledge of Schnyder's crystalline corneal dystrophy. Ann Ottalmol Clin Ocul. 93:1219–1225. 1967.(In Italian). PubMed/NCBI | |
|
Modabber M, Darvish-Zargar M, Breton L, Chung DD, Duong H, Aldave AJ and Choremis J: Crystalline keratopathy in post-LASIK ectasia: A case report. Cornea. 38:635–638. 2019. View Article : Google Scholar : PubMed/NCBI | |
|
Handa S, Thakur A, Rajneesh D, Kulshrestha A and Gupta A: Schnyder's crystalline corneal dystrophy. QJM. 113:662020. View Article : Google Scholar : PubMed/NCBI | |
|
Sarosiak A, Udziela M, Ścieżyńska A, Oziębło D, Wawrzynowska A, Szaflik JP and Ołdak M: Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. Graefes Arch Clin Exp Ophthalmol. 256:2127–2134. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Kitazawa K, Wakimasu K, Kayukawa K, Sugimoto M, Nakai J, Weiss JS, Ueno M, Sotozono C and Kinoshita S: Long-term outcome after penetrating keratoplasty in a pedigree with the G177E mutation in the UBIAD1 gene for Schnyder corneal dystrophy. Cornea. 37:554–559. 2018. View Article : Google Scholar : PubMed/NCBI | |
|
Jo Y, Kim SS, Garland K, Fuentes I, DiCarlo LM, Ellis JL, Fu X, Booth SL, Evers BM and DeBose-Boyd RA: Enhanced ER-associated degradation of HMG CoA reductase causes embryonic lethality associated with Ubiad1 deficiency. Elife. 9:e548412020. View Article : Google Scholar : PubMed/NCBI | |
|
Evans CJ, Dudakova L, Skalicka P, Mahelkova G, Horinek A, Hardcastle AJ, Tuft SJ and Liskova P: Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. BMC Ophthalmol. 18:2502018. View Article : Google Scholar : PubMed/NCBI | |
|
Xu Z, Duan F, Lu H, Dragh MA, Xia Y, Liang H and Hong L: UBIAD1 suppresses the proliferation of bladder carcinoma cells by regulating H-Ras intracellular trafficking via interaction with the C-terminal domain of H-Ras. Cell Death Dis. 9:11702018. View Article : Google Scholar : PubMed/NCBI |
