A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism

被引:0
作者
Karim Matmat
Jean-Baptiste Conart
Paul-Henri Graindorge
Sandra El Kouche
Ziad Hassan
Youssef Siblini
Rémy Umoret
Ramia Safar
Okan Baspinar
Aurélie Robert
Jean-Marc Alberto
Abderrahim Oussalah
David Coelho
Jean-Louis Guéant
Rosa-Maria Guéant-Rodriguez
机构
[1] University of Lorraine,Inserm UMRS 1256 NGERE – Nutrition, Genetics, and Environmental Risk Exposure
[2] University Regional Hospital Center of Nancy,National Center of Inborn Errors of Metabolism
[3] University Regional Hospital Center of Nancy,Department of Ophthalmology
[4] Faculté de Médecine,undefined
来源
Clinical Epigenetics | / 15卷
关键词
Methionine synthase; DNA methylation; Epigenetics; Retina; Retinoid metabolism; Vitamin B12;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 190 条
  • [1] Li F(2009)Vitamin B(12) and birth defects Mol Genet Metab 98 166-172
  • [2] Watkins D(2022)Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B12 metabolism Crit Rev Biochem Mol Biol 57 133-155
  • [3] Rosenblatt DS(2022)Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: a meta-analysis Cell Rep Med 3 100670-1251
  • [4] Guéant J-L(2022)Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review Hum Genet 141 1239-500
  • [5] Guéant-Rodriguez R-M(2005)Disturbed visual system function in methionine synthase deficiency Graefes Arch Clin Exp Ophthalmol 243 497-48
  • [6] Kosgei VJ(2017)Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency J Inherit Metab Dis 40 21-5901
  • [7] Coelho D(2022)Ophthalmic manifestations of nutritional deficiencies: a mini review J Family Med Prim Care. 11 5899-12
  • [8] Wiedemann A(2022)Role of hyperhomocysteinemia and Vitamin B12 deficiency in central and hemi-central retinal vein occlusion: a case-control study Oman J Ophthalmol 15 6-3151
  • [9] Oussalah A(2021)The effects of vitamin B12 deficiency on retina and optic disk vascular density Int Ophthalmol 41 3145-2404
  • [10] Lamireau N(2021)Evaluation of macular, retinal nerve fiber layer and choroidal thickness by optical coherence tomography in children and adolescents with vitamin B12 deficiency Int Ophthalmol 41 2399-1985