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p53 Activation in Genetic Disorders: Different Routes to the Same Destination

Tsai, Yu-Young, Su, Chun-Hao, Tarn, Woan-Yuh·2021·International Journal of Molecular Sciences
DOI 10.3390/ijms22179307
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Abstract

The tumor suppressor p53 is critical for preventing neoplastic transformation and tumor progression. Inappropriate activation of p53, however, has been observed in a number of human inherited disorders that most often affect development of the brain, craniofacial region, limb skeleton, and hematopoietic system. Genes related to these developmental disorders are essentially involved in transcriptional regulation/chromatin remodeling, rRNA metabolism, DNA damage-repair pathways, telomere maintenance, and centrosome biogenesis. Perturbation of these activities or cellular processes may result in p53 accumulation in cell cultures, animal models, and perhaps humans as well. Mouse models of several p53 activation-associated disorders essentially recapitulate human traits, and inactivation of p53 in these models can alleviate disorder-related phenotypes. In the present review, we focus on how dysfunction of the aforementioned biological processes causes developmental defects via excessive p53 activation. Notably, several disease-related genes exert a pleiotropic effect on those cellular processes, which may modulate the magnitude of p53 activation and establish or disrupt regulatory loops. Finally, we discuss potential therapeutic strategies for genetic disorders associated with p53 misactivation.

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Research works printed but not linked: 122

  1. Andrysik, 2017, Identification of a core TP53 transcriptional program with highly distributed tumor suppressive activity, Genome Res., 27, 1645, 10.1101/gr.220533.117 · DOI
  2. Fischer, 2017, Census and evaluation of p53 target genes, Oncogene, 36, 3943, 10.1038/onc.2016.502 · DOI · Paper page
  3. Jacks, 1994, Tumor spectrum analysis in p53-mutant mice, Curr. Biol., 4, 1, 10.1016/S0960-9822(00)00002-6 · DOI · Paper page
  4. Jain, 2018, p53: Emerging roles in stem cells, development and beyond, Development, 145, dev158360, 10.1242/dev.158360 · DOI
  5. Berkers, 2013, Metabolic regulation by p53 family members, Cell Metab., 18, 617, 10.1016/j.cmet.2013.06.019 · DOI · Paper page
  6. Rufini, 2013, Senescence and aging: The critical roles of p53, Oncogene, 32, 5129, 10.1038/onc.2012.640 · DOI · Paper page
  7. 2017, P53 Dysfunction in Neurodegenerative Diseases - The Cause or Effect of Pathological Changes?, Aging Dis., 8, 506, 10.14336/AD.2016.1120 · DOI
  8. Bowen, 2019, The role of p53 in developmental syndromes, J. Mol. Cell Biol., 11, 200, 10.1093/jmcb/mjy087 · DOI · Paper page
  9. Pfister, 2017, Transcriptional Regulation by Wild-Type and Cancer-Related Mutant Forms of p53, Cold Spring Harb. Perspect. Med., 7, a026054, 10.1101/cshperspect.a026054 · DOI
  10. Aubrey, 2018, How does p53 induce apoptosis and how does this relate to p53-mediated tumour suppression?, Cell Death Differ., 25, 104, 10.1038/cdd.2017.169 · DOI · Paper page
  11. Maiuri, 2010, Autophagy regulation by p53, Curr. Opin. Cell Biol., 22, 181, 10.1016/j.ceb.2009.12.001 · DOI · Paper page
  12. Comel, 2014, The cytoplasmic side of p53’s oncosuppressive activities, FEBS Lett., 588, 2600, 10.1016/j.febslet.2014.04.015 · DOI
  13. Lucchesi, 2016, Modulation of the p53 family network by RNA-binding proteins, Transl. Cancer Res., 5, 676, 10.21037/tcr.2016.08.30 · DOI
  14. Herrero, A.B., Rojas, E.A., Misiewicz-Krzeminska, I., Krzeminski, P., and Gutiérrez, N.C. (2016). Molecular Mechanisms of p53 Deregulation in Cancer: An Overview in Multiple Myeloma. Int. J. Mol. Sci., 17. · DOI
  15. Takagi, 2005, Regulation of p53 translation and induction after DNA damage by ribosomal protein L26 and nucleolin, Cell, 123, 49, 10.1016/j.cell.2005.07.034 · DOI · Paper page
  16. Marcel, 2011, Biological functions of p53 isoforms through evolution: Lessons from animal and cellular models, Cell Death Differ., 18, 1815, 10.1038/cdd.2011.120 · DOI · Paper page
  17. Yin, 2002, p53 Stability and activity is regulated by Mdm2-mediated induction of alternative p53 translation products, Nat. Cell Biol., 4, 462, 10.1038/ncb801 · DOI · Paper page
  18. Vieler, M., and Sanyal, S. (2018). p53 Isoforms and Their Implications in Cancer. Cancers, 10. · DOI
  19. Chen, 2009, p53 isoform delta113p53 is a p53 target gene that antagonizes p53 apoptotic activity via BclxL activation in zebrafish, Genes Dev., 23, 278, 10.1101/gad.1761609 · DOI · Paper page
  20. Turnquist, 2016, p53 isoforms regulate astrocyte-mediated neuroprotection and neurodegeneration, Cell Death Differ., 23, 1515, 10.1038/cdd.2016.37 · DOI · Paper page
  21. Bowen, 2019, The Spatiotemporal Pattern and Intensity of p53 Activation Dictates Phenotypic Diversity in p53-Driven Developmental Syndromes, Dev. Cell, 50, 212, 10.1016/j.devcel.2019.05.015 · DOI
  22. Wang, 2011, Fine-tuning p53 activity through C-terminal modification significantly contributes to HSC homeostasis and mouse radiosensitivity, Genes Dev., 25, 1426, 10.1101/gad.2024411 · DOI · Paper page
  23. Brady, 2014, Inappropriate p53 activation during development induces features of CHARGE syndrome, Nature, 514, 228, 10.1038/nature13585 · DOI · Paper page
  24. (1996). Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. Nat Genet., 12, 130–136. · DOI · Paper page
  25. Dixon, 2006, Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities, Proc. Natl. Acad. Sci. USA, 103, 13403, 10.1073/pnas.0603730103 · DOI · Paper page
  26. Rubbi, 2003, Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses, EMBO J., 22, 6068, 10.1093/emboj/cdg579 · DOI · Paper page
  27. Jones, 2008, Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function, Nat. Med., 14, 125, 10.1038/nm1725 · DOI · Paper page
  28. Narla, 2010, Ribosomopathies: Human disorders of ribosome dysfunction, Blood, 115, 3196, 10.1182/blood-2009-10-178129 · DOI · Paper page
  29. Deisenroth, 2016, The Evolution of the Ribosomal Protein-MDM2-p53 Pathway, Cold Spring Harb. Perspect. Med., 6, a026138, 10.1101/cshperspect.a026138 · DOI
  30. Holohan, 2014, Cell biology of disease: Telomeropathies: An emerging spectrum disorder, J. Cell Biol., 205, 289, 10.1083/jcb.201401012 · DOI · Paper page
  31. Lee, 2016, DNA damage to human genetic disorders with neurodevelopmental defects, J. Genet. Med., 13, 1, 10.5734/JGM.2016.13.1.1 · DOI
  32. Schoborg, 2018, Same but different: Pleiotropy in centrosome-related microcephaly, Mol. Biol. Cell, 29, 241, 10.1091/mbc.E17-03-0192 · DOI
  33. Attardi, 2014, Guilty as CHARGED: p53’s expanding role in disease, Cell Cycle, 13, 3798, 10.4161/15384101.2014.987627 · DOI
  34. Hart, 2017, Neural tube defects in Waardenburg syndrome: A case report and review of the literature, Am. J. Med. Genet. A, 173, 2472, 10.1002/ajmg.a.38325 · doi:10.1002/ajmg.a.38325
  35. Du, 2020, The Genetics and Epigenetics of 22q11.2 Deletion Syndrome, Front. Genet., 10, 1365, 10.3389/fgene.2019.01365 · DOI
  36. Halperin, 1989, Diamond-blackfan anemia: Etiology, pathophysiology, and treatment, Am. J. Pediatr. Hematol. Oncol., 11, 380
  37. Jaako, 2011, Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia, Blood, 118, 6087, 10.1182/blood-2011-08-371963 · DOI
  38. Barlow, 2010, A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome, Nat. Med., 16, 59, 10.1038/nm.2063 · DOI · Paper page
  39. Liu, 2016, RP-MDM2-p53 Pathway: Linking Ribosomal Biogenesis and Tumor Surveillance, Trends Cancer, 2, 191, 10.1016/j.trecan.2016.03.002 · DOI
  40. Ogawa, 2019, Ribosomopathies: Old Concepts, New Controversies, Trends Genet., 35, 754, 10.1016/j.tig.2019.07.004 · DOI · Paper page
  41. Kampen, 2020, Hallmarks of ribosomopathies, Nucleic Acids Res., 48, 1013, 10.1093/nar/gkz637 · DOI · Paper page
  42. Dai, 2007, Inhibition of c-Myc activity by ribosomal protein L11, EMBO J., 26, 3332, 10.1038/sj.emboj.7601776 · DOI · Paper page
  43. Liao, 2014, Ribosomal proteins L5 and L11 co-operatively inactivate c-Myc via RNA-induced silencing complex, Oncogene, 33, 4916, 10.1038/onc.2013.430 · DOI
  44. Varetti, 2015, Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis, Cell Rep., 13, 712, 10.1016/j.celrep.2015.09.038 · doi:10.1016/j.celrep.2015.09.038
  45. Ludwig, 2014, Altered translation of GATA1 in Diamond-Blackfan anemia, Nat. Med., 20, 748, 10.1038/nm.3557 · DOI · Paper page
  46. Li, 2020, Ribosome heterogeneity in stem cells and development, J. Cell Biol., 219, e202001108, 10.1083/jcb.202001108 · DOI
  47. Norris, 2021, Ribosome heterogeneity and specialization in development, Wiley Interdiscip. Rev. RNA, 12, e1644, 10.1002/wrna.1644 · DOI
  48. Favaro, 2014, A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects, Am. J. Hum. Genet., 94, 120, 10.1016/j.ajhg.2013.11.020 · DOI
  49. Albers, 2012, Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome, Nat. Genet., 44, 435, 10.1038/ng.1083 · DOI · Paper page
  50. Rosenfeld, 2012, Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes, Eur. J. Hum. Genet., 20, 754, 10.1038/ejhg.2012.6 · DOI
  51. Mao, 2015, Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly, J. Neurosci., 35, 7003, 10.1523/JNEUROSCI.0018-15.2015 · DOI
  52. Mao, 2016, Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly, PLoS Genet., 12, e1006282, 10.1371/journal.pgen.1006282 · DOI
  53. Su, C.H., Liao, W.J., Ke, W.C., Yang, R.B., and Tarn, W.Y. (2020). The Y14-p53 regulatory circuit in megakaryocyte differentiation and thrombocytopenia. bioRxiv. · doi:10.1101/2020.11.03.367508
  54. Silver, 2010, The exon junction complex component Magoh controls brain size by regulating neural stem cell division, Nat. Neurosci., 13, 551, 10.1038/nn.2527 · DOI · Paper page
  55. Chuang, 2019, The RNA Processing Factor Y14 Participates in DNA Damage Response and Repair, iScience, 13, 402, 10.1016/j.isci.2019.03.005 · doi:10.1016/j.isci.2019.03.005
  56. Kwon, 2021, Exon junction complex dependent mRNA localization is linked to centrosome organization during ciliogenesis, Nat. Commun., 12, 1351, 10.1038/s41467-021-21590-w · DOI
  57. Lu, 2017, Y14 governs p53 expression and modulates DNA damage sensitivity, Sci. Rep., 7, 45558, 10.1038/srep45558 · DOI
  58. Taylor, 2019, Chromosome instability syndromes, Nat. Rev. Dis. Primers, 5, 64, 10.1038/s41572-019-0113-0 · DOI · Paper page
  59. Sczepanski, 2009, Double-strand break formation during nucleotide excision repair of a DNA interstrand cross-link, Biochemistry, 48, 7565, 10.1021/bi901006b · DOI
  60. Ceccaldi, 2016, The Fanconi anaemia pathway: New players and new functions, Nat. Rev. Mol. Cell Biol., 17, 337, 10.1038/nrm.2016.48 · DOI · Paper page
  61. 2017, Fanconi anemia pathway, Curr Biol., 27, R986, 10.1016/j.cub.2017.07.043 · DOI
  62. Aguilera, 2016, Transcription-replication conflicts: How they occur and how they are resolved, Nat. Rev. Mol. Cell Biol., 17, 553, 10.1038/nrm.2016.88 · DOI · Paper page
  63. Bianchi, 2018, Impact of DNA repair and stability defects on cortical development, Cell Mol. Life Sci., 75, 3963, 10.1007/s00018-018-2900-2 · DOI
  64. Niraj, 2019, The Fanconi Anemia Pathway in Cancer, Annu. Rev. Cancer Biol., 3, 457, 10.1146/annurev-cancerbio-030617-050422 · DOI · Paper page
  65. Ceccaldi, 2012, Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells, Cell Stem Cell., 11, 36, 10.1016/j.stem.2012.05.013 · DOI · Paper page
  66. Etienne, 2008, Fanconi DNA repair pathway is required for survival and long-term maintenance of neural progenitors, EMBO J., 27, 770, 10.1038/emboj.2008.14 · DOI
  67. Brugarolas, 1997, Double indemnity: p53, BRCA and cancer. p53 mutation partially rescues developmental arrest in Brca1 and Brca2 null mice, suggesting a role for familial breast cancer genes in DNA damage repair, Nat. Med., 3, 721, 10.1038/nm0797-721 · DOI
  68. Adam, 2007, A role for Xrcc2 in the early stages of mouse development, DNA Repair, 6, 224, 10.1016/j.dnarep.2006.10.024 · DOI
  69. Lim, 1996, A mutation in mouse rad51 results in an early embryonic lethal that is suppressed by a mutation in p53, Mol. Cell. Biol., 16, 7133, 10.1128/MCB.16.12.7133 · DOI · Paper page
  70. Woodbine, 2014, The clinical impact of deficiency in DNA non-homologous end-joining, DNA Repair, 16, 84, 10.1016/j.dnarep.2014.02.011 · DOI · Paper page
  71. Frank, 2000, DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway, Mol. Cell., 5, 993, 10.1016/S1097-2765(00)80264-6 · DOI · Paper page
  72. Gao, 2000, Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development, Nature, 404, 897, 10.1038/35009138 · DOI · Paper page
  73. Jiang, 2015, Differential phosphorylation of DNA-PKcs regulates the interplay between end-processing and end-ligation during nonhomologous end-joining, Mol. Cell, 58, 172, 10.1016/j.molcel.2015.02.024 · DOI · Paper page
  74. Lamarche, 2010, The MRN complex in double-strand break repair and telomere maintenance, FEBS Lett., 584, 3682, 10.1016/j.febslet.2010.07.029 · DOI · Paper page
  75. Chrzanowska, 2012, Nijmegen breakage syndrome (NBS), Orphanet J. Rare Dis., 7, 13, 10.1186/1750-1172-7-13 · DOI · Paper page
  76. Frappart, 2005, An essential function for NBS1 in the prevention of ataxia and cerebellar defects, Nat. Med., 11, 538, 10.1038/nm1228 · DOI · Paper page
  77. Pfeiffer, 2013, Replication of telomeres and the regulation of telomerase, Cold Spring Harb. Perspect. Biol., 5, a010405, 10.1101/cshperspect.a010405 · DOI
  78. Maciejowski, 2017, Telomeres in cancer: Tumour suppression and genome instability, Nat. Rev. Mol. Cell Biol., 18, 175, 10.1038/nrm.2016.171 · DOI · Paper page
  79. Mochizuki, 2004, Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing, Proc. Natl. Acad. Sci. USA, 101, 10756, 10.1073/pnas.0402560101 · DOI · Paper page
  80. Ge, 2010, Dyskerin ablation in mouse liver inhibits rRNA processing and cell division, Mol. Cell Biol., 30, 413, 10.1128/MCB.01128-09 · DOI
  81. Pereboeva, 2016, Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells, PLoS ONE, 11, e0148793, 10.1371/journal.pone.0148793 · DOI
  82. Tejera, 2010, TPP1 is required for TERT recruitment, telomere elongation during nuclear reprogramming, and normal skin development in mice, Dev. Cell, 18, 775, 10.1016/j.devcel.2010.03.011 · DOI
  83. Benyelles, 2019, Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models, EMBO Mol. Med., 11, e10201, 10.15252/emmm.201810201 · DOI
  84. Toufektchan, 2020, Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance, Sci. Adv., 6, eaay3511, 10.1126/sciadv.aay3511 · DOI
  85. Simeonova, 2013, Mutant mice lacking the p53 C-terminal domain model telomere syndromes, Cell Rep., 3, 2046, 10.1016/j.celrep.2013.05.028 · DOI
  86. Tummala, 2015, Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita, J. Clin. Investig., 125, 2151, 10.1172/JCI78963 · DOI · Paper page
  87. 2012, Towards a molecular architecture of centriole assembly, Nat. Rev. Mol. Cell Biol., 13, 425, 10.1038/nrm3373 · DOI · Paper page
  88. Cosenza, 2016, Centrosome amplification, chromosomal instability and cancer: Mechanistic, clinical and therapeutic issues, Chromosome Res., 24, 105, 10.1007/s10577-015-9505-5 · DOI
  89. Wu, 2020, Centrosome dysfunction: A link between senescence and tumor immunity, Signal Transduct. Target. Ther., 5, 107, 10.1038/s41392-020-00214-7 · DOI
  90. LoMastro, 2019, The Emerging Link between Centrosome Aberrations and Metastasis, Dev. Cell, 49, 325, 10.1016/j.devcel.2019.04.002 · DOI
  91. Haren, 2006, NEDD1-dependent recruitment of the gamma-tubulin ring complex to the centrosome is necessary for centriole duplication and spindle assembly, J. Cell Biol., 172, 505, 10.1083/jcb.200510028 · DOI · Paper page
  92. Goundiam, 2021, Centrosomes in disease: How the same music can sound so different?, Curr. Opin. Struct. Biol., 66, 74, 10.1016/j.sbi.2020.09.011 · doi:10.1016/j.sbi.2020.09.011
  93. Siskos, N., Stylianopoulou, E., Skavdis, G., and Grigoriou, M.E. (2021). Molecular Genetics of Microcephaly Primary Hereditary: An Overview. Brain Sci., 11. · DOI
  94. Fish, 2006, Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells, Proc. Natl. Acad. Sci. USA, 103, 10438, 10.1073/pnas.0604066103 · DOI · Paper page
  95. Williams, 2015, Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice, Development, 142, 3921
  96. Gai, 2016, ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules, EMBO Rep., 17, 1396, 10.15252/embr.201541823 · DOI
  97. Bianchi, 2017, Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly, Cell Rep., 18, 1674, 10.1016/j.celrep.2017.01.054 · DOI
  98. Klingseisen, 2011, Mechanisms and pathways of growth failure in primordial dwarfism, Genes Dev., 25, 2011, 10.1101/gad.169037 · DOI · Paper page
  99. Brown, 2013, Cep63 and cep152 cooperate to ensure centriole duplication, PLoS ONE, 8, e69986, 10.1371/journal.pone.0069986 · DOI
  100. Scheel, 2015, CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination, Nat. Commun., 6, 7676, 10.1038/ncomms8676 · DOI
  101. Monda, 2018, Nde1 promotes diverse dynein functions through differential interactions and exhibits an isoform-specific proteasome association, Mol. Biol. Cell, 29, 2336, 10.1091/mbc.E18-07-0418 · doi:10.1091/mbc.e18-07-0418
  102. Phan, 2021, Centrosome defects cause microcephaly by activating the 53BP1-USP28-TP53 mitotic surveillance pathway, EMBO J., 40, e106118, 10.15252/embj.2020106118 · DOI
  103. Ruggero, 2003, Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification, Science, 299, 259, 10.1126/science.1079447 · DOI · Paper page
  104. Yoon, 2006, Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita, Science, 312, 902, 10.1126/science.1123835 · DOI · Paper page
  105. Penzo, M., and Montanaro, L. (2018). Turning Uridines around: Role of rRNA Pseudouridylation in Ribosome Biogenesis and Ribosomal Function. Biomolecules, 8. · DOI
  106. Farooq, 2020, RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis, Nat. Commun., 11, 5816, 10.1038/s41467-020-19658-0 · DOI
  107. Smith, 2009, An ATM- and ATR-dependent checkpoint inactivates spindle assembly by targeting CEP63, Nat. Cell Biol., 11, 278, 10.1038/ncb1835 · DOI
  108. Nalepa, 2013, Fanconi anemia signaling network regulates the spindle assembly checkpoint, J. Clin. Investig., 123, 3839, 10.1172/JCI67364 · DOI
  109. Gueiderikh, 2021, Fanconi anemia A protein participates in nucleolar homeostasis maintenance and ribosome biogenesis, Sci. Adv., 7, eabb5414, 10.1126/sciadv.abb5414 · DOI
  110. Sohn, 2009, Pifithrin-alpha protects against DNA damage-induced apoptosis downstream of mitochondria independent of p53, Cell Death Differ., 16, 869, 10.1038/cdd.2009.17 · DOI
  111. Dutt, 2011, Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells, Blood, 117, 2567, 10.1182/blood-2010-07-295238 · DOI · Paper page
  112. Taylor, 2020, Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia, Sci. Transl. Med., 12, eabb5831, 10.1126/scitranslmed.abb5831 · DOI
  113. Jaako, 2012, Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia, Blood, 120, 2225, 10.1182/blood-2012-05-431437 · DOI
  114. Payne, 2012, L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway, Blood, 120, 2214, 10.1182/blood-2011-10-382986 · DOI · Paper page
  115. Sakai, 2016, Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation, Nat. Commun., 7, 10328, 10.1038/ncomms10328 · DOI
  116. Mouguelar, 2016, Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes, Cell Death Dis., 7, e2397, 10.1038/cddis.2016.299 · DOI
  117. Rosas, 2019, Proteasomal inhibition attenuates craniofacial malformations in a zebrafish model of Treacher Collins Syndrome, Biochem. Pharmacol., 163, 362, 10.1016/j.bcp.2019.03.005 · DOI
  118. Grossmann, 2016, Danazol Treatment for Telomere Diseases, N. Engl. J. Med., 375, 1095, 10.1056/NEJMc1607752 · DOI
  119. Zhou, 2011, Reduced SMAD7 leads to overactivation of TGF-beta signaling in MDS that can be reversed by a specific inhibitor of TGF-beta receptor I kinase, Cancer Res., 71, 955, 10.1158/0008-5472.CAN-10-2933 · DOI
  120. Zhang, 2016, TGF-β Inhibition Rescues Hematopoietic Stem Cell Defects and Bone Marrow Failure in Fanconi Anemia, Cell Stem Cell, 18, 668, 10.1016/j.stem.2016.03.002 · DOI
  121. Navarro, 2018, Advances in Gene Therapy for Fanconi Anemia, Hum. Gene Ther., 29, 1114, 10.1089/hum.2018.124 · DOI
  122. Sanz, 2019, RiboTag: Ribosomal Tagging Strategy to Analyze Cell-Type-Specific mRNA Expression In Vivo, Curr. Protoc. Neurosci., 88, e77, 10.1002/cpns.77 · DOI

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Metadata

Authors
Tsai, Y.-Y., Su, C.-H., & Tarn, W.-Y.
Affiliations
Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2021-08-27
Volume
22
Issue
17
Pages
9307
ISSN
1422-0067
DOI
10.3390/ijms22179307
Cited by
19
References
16
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (vor)
Funders
Ministry of Science and Technology, Taiwan (109-2811-B-001-529)

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Tsai, Y.-Y., Su, C.-H., & Tarn, W.-Y. (2021). p53 Activation in Genetic Disorders: Different Routes to the Same Destination. International Journal of Molecular Sciences. https://doi.org/10.3390/ijms22179307

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