Reichardt JK, Woo SL. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci U S A. 1991;88(7):2633–7.
Article PubMed PubMed Central CAS Google Scholar
Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019;14(1):86.
Article PubMed PubMed Central CAS Google Scholar
Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E. Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis. 2011;34(2):357–66.
Article PubMed CAS Google Scholar
Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, et al. Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Mol Genet Metab. 2018;125(3):258–65.
Article PubMed CAS Google Scholar
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism. 2018;83:188–96.
Article PubMed CAS Google Scholar
Segal S, Berry G. Disorders of galactose metabolism. CR S, AL B, WS S, D V, editors. The metabolic and molecular basis of inherited disease. 7th New York: McGraw-Hill; 1995. 967–1000.
Balakrishnan B, Siddiqi A, Mella J, Lupo A, Li E, Hollien J, et al. Salubrinal enhances eIF2alpha phosphorylation and improves fertility in a mouse model of classic Galactosemia. Biochim Biophys Acta Mol basis Dis. 2019;1865(11):165516.
Article PubMed PubMed Central CAS Google Scholar
Slepak TI, Tang M, Slepak VZ, Lai K. Involvement of endoplasmic reticulum stress in a novel classic Galactosemia model. Mol Genet Metab. 2007;92(1–2):78–87.
Article PubMed PubMed Central CAS Google Scholar
Haskovic M, Coelho AI, Lindhout M, Zijlstra F, Veizaj R, Vos R, et al. Nucleotide sugar profiles throughout development in wildtype and Galt knockout zebrafish. J Inherit Metab Dis. 2020;43(5):994–1001.
De-Souza EA, Pimentel FSA, Machado CM, Martins LS, Da-Silva WS, Montero-Lomelí M, et al. The unfolded protein response has a protective role in yeast models of classic galactosemia. DMM Dis Models Mech. 2014;7(1):55–61.
Coman DJ, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, et al. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr Res. 2010;67(3):286–92.
Daenzer JM, Fridovich-Keil JL. Drosophila melanogaster models of Galactosemia. Curr Top Dev Biol. 2017;121:377–95.
Article PubMed CAS Google Scholar
Laven JS. Primary ovarian insufficiency. Semin Reprod Med. 2016;34(4):230–4.
Hagen-Lillevik SJ, Rushing JS, Appiah L, Longo N, Andrews A, Lai K, et al. Pathophysiology and Management of Classic Galactosemic primary ovarian insufficiency. Reprod Fertil. 2021;2(3):R67–84.
Hadji P. Menopausal symptoms and adjuvant therapy-associated adverse events. Endocr Relat Cancer. 2008;15(1):73–90.
Article PubMed CAS Google Scholar
Tao XY, Zuo AZ, Wang JQ, Tao FB. Effect of primary ovarian insufficiency and early natural menopause on mortality: a meta-analysis. Climacteric. 2016;19(1):27–36.
Groff AA, Covington SN, Halverson LR, Fitzgerald OR, Vanderhoof V, Calis K, et al. Assessing the emotional needs of women with spontaneous premature ovarian failure. Fertil Steril. 2005;83(6):1734–41.
Wallace WH, Kelsey TW. Human ovarian reserve from conception to the menopause. Plos One. 2010;5(1):e8772.
Article PubMed PubMed Central Google Scholar
Oktay KH, Bedoschi G, Goldfarb SB, Taylan E, Titus S, Palomaki GE, et al. Increased chemotherapy-induced ovarian reserve loss in women with germline BRCA mutations due to oocyte deoxyribonucleic acid double strand break repair deficiency. Fertil Steril. 2020;113(6):1251–60.e1.
Article PubMed PubMed Central CAS Google Scholar
Guzel E, Arlier S, Guzeloglu-Kayisli O, Tabak MS, Ekiz T, Semerci N, et al. Endoplasmic reticulum stress and homeostasis in reproductive physiology and pathology. Int J Mol Sci. 2017;18(4):792.
Harada M, Nose E, Takahashi N, Hirota Y, Hirata T, Yoshino O, et al. Evidence of the activation of unfolded protein response in granulosa and cumulus cells during follicular growth and maturation. Gynecol Endocrinol. 2015;31(10):783–7.
Article PubMed CAS Google Scholar
Levy HL, Driscoll SG, Porensky RS, Wender DF. Ovarian failure in galactosemia. N Engl J Med. 1984;310(1):50.
Article PubMed CAS Google Scholar
Rubio-Gozalbo ME, Gubbels CS, Bakker JA, Menheere PP, Wodzig WK, Land JA. Gonadal function in male and female patients with classic galactosemia. Hum Reprod Update. 2010;16(2):177–88.
Article PubMed CAS Google Scholar
Roness H, Gavish Z, Cohen Y, Meirow D. Ovarian follicle burnout: a universal phenomenon? Cell Cycle (Georgetown, Tex). 2013;12(20):3245–6.
Tang M, Siddiqi A, Witt B, Yuzyuk T, Johnson B, Fraser N, et al. Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. Eur J Hum Genet. 2014;22(10):1172–9.
Article PubMed PubMed Central CAS Google Scholar
Balakrishnan B, Chen W, Tang M, Huang X, Cakici DD, Siddiqi A, et al. Galactose-1 phosphate uridylyltransferase (GalT) gene: a novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts. Biochem Biophys Res Commun. 2016;470(1):205–12.
Article PubMed PubMed Central CAS Google Scholar
Balakrishnan B, Nicholas C, Siddiqi A, Chen W, Bales E, Feng M, et al. Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model. Biochim Biophys Acta Mol basis Dis. 2017;1863(12):3286–93.
Article PubMed CAS Google Scholar
Balakrishnan B, An D, Nguyen V, DeAntonis C, Martini PGV, Lai K. Novel mRNA-based therapy reduces toxic galactose metabolites and overcomes galactose sensitivity in a mouse model of classic Galactosemia. Mol Ther. 2020;28(1):304–12.
Article PubMed CAS Google Scholar
Chen W, Caston R, Balakrishnan B, Siddiqi A, Parmar K, Tang M, et al. Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency. J Inherit Metab Dis. 2017;40(1):131–7.
Article PubMed CAS Google Scholar
Llerena Cari E, Hagen-Lillevik S, Giornazi A, Post M, Komar AA, Appiah L, et al. Integrated stress response control of granulosa cell translation and proliferation during normal ovarian follicle development. Mol Hum Reprod. 2021;27(8):gaab050.
Pakos-Zebrucka K, Koryga I, Mnich K, Ljujic M, Samali A, Gorman AM. The integrated stress response. EMBO Rep. 2016;17(10):1374–95.
Article PubMed PubMed Central CAS Google Scholar
Colegrove-Otero LJ, Minshall N, Standart N. RNA-binding proteins in early development. Crit Rev Biochem Mol Biol. 2005;40(1):21–73.
Article PubMed CAS Google Scholar
Donnelly N, Gorman AM, Gupta S, Samali A. The eIF2alpha kinases: their structures and functions. Cell Mol Life Sci. 2013;70(19):3493–511.
Article PubMed CAS Google Scholar
Komar AA, Merrick WC. A retrospective on eIF2A-and not the alpha subunit of eIF2. Int J Mol Sci. 2020;21(6).
Le Bouffant R, Boulben S, Cormier P, Mulner-Lorillon O, Bellé R, Morales J. Inhibition of translation and modification of translation factors during apoptosis induced by the DNA-damaging agent MMS in sea urchin embryos. Exp Cell Res. 2008;314(5):961–8.
Alves VS, Motta FL, Roffe M, Delamano A, Pesquero JB, Castilho BA. GCN2 activation and eIF2alpha phosphorylation in the maturation of mouse oocytes. Biochem Biophys Res Commun. 2009;378(1):41–4.
Article PubMed CAS Google Scholar
Uslu B, Dioguardi CC, Haynes M, Miao DQ, Kurus M, Hoffman G, et al. Quantifying growing versus non-growing ovarian follicles in the mouse. J Ovarian Res. 2017;10(1):3.
Article PubMed PubMed Central Google Scholar
Adhikari D, Liu K. Molecular mechanisms underlying the activation of mammalian primordial follicles. Endocr Rev. 2009;30(5):438–64.
Article PubMed CAS Google Scholar
Harada M, Takahashi N, Azhary JM, Kunitomi C, Fujii T, Osuga Y. Endoplasmic reticulum stress: a key regulator of the follicular microenvironment in the ovary. Mol Hum Reprod. 2021;27(1):gaaa088.
Hua D, Zhou Y, Lu Y, Zhao C, Qiu W, Chen J, et al. Lipotoxicity impairs granulosa cell function through activated endoplasmic reticulum stress pathway. Reprod Sci. 2020;27(1):119–31.
Article PubMed CAS Google Scholar
Jin J, Ma Y, Tong X, Yang W, Dai Y, Pan Y, et al. Metformin inhibits testosterone-induced endoplasmic reticulum stress in ovarian granulosa cells via inactivation of p38 MAPK. Hum Reprod. 2020;35(5):1145–58.
Article PubMed PubMed Central CAS Google Scholar
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