Functional study of SCCD pathogenic gene <em>UBIAD1</em> (Review)

Xie,Jumin; Li,Lingxing

doi:10.3892/mmr.2021.12345

October-2021 Volume 24 Issue 4

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October-2021 Volume 24 Issue 4

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Review Open Access

Functional study of SCCD pathogenic gene UBIAD1 (Review)

Authors:
- Jumin Xie
- Lingxing Li
View Affiliations / Copyright

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

Copyright: © Xie et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Article Number: 706
|
Published online on: August 6, 2021

https://doi.org/10.3892/mmr.2021.12345
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Abstract

Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant genetic disorder that is characterized by progressive corneal opacity, owing to aberrant accumulation of cholesterol and phospholipids in the cornea. A number of SCCD affected families have been reported in the world since 1924, when it was first described. In 2007, the molecular basis of SCCD was demonstrated to be associated with a tumor suppressor, UbiA prenyltransferase domain‑containing 1 (UBIAD1), which was isolated from the bladder mucosa and demonstrated to be involved in vitamin K₂ and CoQ10 biosynthesis. This sterol triggers the binding of UBIAD1 to 3‑hydroxy‑3‑methyl‑glutaryl coenzyme A reductase (HMGCR) at endoplasmic reticulum (ER) membranes, which is regulated by an intracellular geranylgeranyl diphosphate (GGpp) molecule. The inability of SCCD‑associated UBIAD1 to bind GGpp results in the consistent binding of UBIAD1 to HMGCR at ER membranes. This binding leads to HMGCRs being redundant. Therefore, they cannot be degraded through ER‑associated degradation to synthesize abundant cholesterol in tissue cells. Excess corneal cholesterol accumulation thus leads to SCCD disease. After decades, the efforts of numerous ophthalmologists and scientists have helped clarify the molecular basis and pathogenesis of SCCD, which has guided the effective diagnosis and treatment of this genetic disorder. However, more studies need to be conducted to understand the pathogenesis of SCCD disease from a genetic basis by studying the defective gene, UBIAD1. Results would guide effective diagnosis and treatment of the inherited eye disease.

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1	Weiss JS: Schnyder corneal dystrophy. Curr Opin Ophthalmol. 20:292–298. 2009. View Article : Google Scholar : PubMed/NCBI
2	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
3	Van Went JM and Wibaut F: A strange inherited corneal alteration. Niederl Tijdschr Geneesk. 68:2996–2997. 1924.(In Dutch).
4	Schnyder WF: Report about a new type of familial corneal disorder. Schweiz Med Wschr. 10:559–571. 1929.(In German).
5	Schnyder WF: Disk-like inherited crytstalline inclusions in the corneal center. KIin Monatsbl Augenheilkd. 103:494–502. 1939.(In German).
6	Glees M: Corneal crystalline dystrophy. Klin Monbl Augenheilkd Augenarztl Fortbild. 131:721–724. 1957.(In German). PubMed/NCBI
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	Michaels RG: Corneal crystalline dystrophy of Schnyder. Arch Ophthalmol. 92:64–65. 1974. View Article : Google Scholar : PubMed/NCBI
16	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
17	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
18	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
19	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
20	Weiss JS: Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature. Ophthalmology. 103:465–473. 1996. View Article : Google Scholar : PubMed/NCBI
21	Weiss JS: More on Schnyder corneal dystrophy. Ophthalmology. 116:22602009. View Article : Google Scholar : PubMed/NCBI
22	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
23	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
24	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
25	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
26	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
27	Weiss JS: Corneal dystrophy classification. Ophthalmology. 116:1013–1014. 2009. View Article : Google Scholar : PubMed/NCBI
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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
51	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
52	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
53	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
54	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
55	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
56	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
57	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
58	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
59	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
60	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
61	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
62	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
63	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
64	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
65	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
66	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
67	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
68	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
69	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
70	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
71	Weiss JS: Schnyder's dystrophy of the cornea. A swede-finn connection. Cornea. 11:93–101. 1992. View Article : Google Scholar : PubMed/NCBI
72	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
73	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
74	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
75	Wakita M, Kanai A and Nakajima A: Schnyder crystalline dystrophy. Nippon Ganka Gakkai Zasshi. 93:676–681. 1989.(In Japanese). PubMed/NCBI
76	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
77	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
78	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
79	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
80	Ehlers N and Matthiessen ME: Hereditary crystalline corneal dystrophy of Schnyder. Acta Ophthalmol (Copenh). 51:316–324. 1973. View Article : Google Scholar : PubMed/NCBI
81	Delogu A: Contribution to the knowledge of Schnyder's crystalline corneal dystrophy. Ann Ottalmol Clin Ocul. 93:1219–1225. 1967.(In Italian). PubMed/NCBI
82	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
83	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
84	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
85	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
86	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
87	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
88	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