Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations

Authors

  • Ping-Chen Hou
  • Ken Natsuga
  • Wei-Ting Tu
  • Hsin-Yu Huang
  • Brandon Chen
  • Liang-Yu Chen
  • Wan-Rung Chen
  • Yi-Kai Hong
  • Yen-An Tang
  • Julia Yu-Yun Lee
  • Peng-Chieh Chen
  • H. Sunny Sun
  • John A. McGrath
  • Chao-Kai Hsu Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, 704 Tainan, Taiwan

DOI:

https://doi.org/10.2340/00015555-3874

Keywords:

LAMB3, laminin-332, Junctional epidermolysis bullosa

Abstract

Abstract is missing (Short communication)

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References

Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, et al. Epidermolysis bullosa. Nat Rev Dis Primers 2020; 6: 78.

Kiritsi D, Has C, Bruckner-Tuderman L. Laminin 332 in junctional epidermolysis bullosa. Cell Adh Migr 2013; 7: 135–141.

Chen F, Huang L, Li C, Zhang J, Yang W, Zhang B, et al. Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population. Clin Genet 2020; 98: 179–184.

Taggart JC, Zauber H, Selbach M, Li GW, McShane E. Keeping the proportions of protein complex components in check. Cell Syst 2020; 10: 125–132.

Matsui C, Pereira P, Wang CK, Nelson CF, Kutzkey T, Lanigan C, et al. Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype. J Exp Med 1998; 187: 1273–1283.

Kwong A, Cogan J, Hou Y, Antaya R, Hao M, Kim G, et al. Gentamicin induces laminin-332 and improves wound healing in junctional epidermolysis bullosa patients with nonsense mutations. Mol Ther 2020; 28: 1327–1338.

Bidou L, Allamand V, Rousset JP, Namy O. Sense from nonsense: therapies for premature stop codon diseases. Trends Mol Med 2012; 18: 679–688.

Paez MC, Gonzalez MJ, Serrano NC, Shoenfeld Y, Anaya JM. Physiological and pathological implications of laminins: from the gene to the protein. Autoimmunity 2007; 40: 83–94.

Aumailley M, Rousselle P. Laminins of the dermo-epidermal junction. Matrix Biol 1999; 18: 19–28.

Sigle RO, Gil SG, Bhattacharya M, Ryan MC, Yang TM, Brown TA, et al. Globular domains 4/5 of the laminin alpha3 chain mediate deposition of precursor laminin 5. J Cell Sci 2004; 117: 4481–4494.

Meneguzzi G, Marinkovich MP, Aberdam D, Pisani A, Burgeson R, Ortonne JP. Kalinin is abnormally expressed in epithelial basement membranes of Herlitz’s junctional epidermolysis bullosa patients. Exp Dermatol 1992; 1: 221–229.

McGrath JA, Eady RA. The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa. J Dermatol Sci 1997; 14: 68–75.

McMillan JR, McGrath JA, Pulkkinen L, Kon A, Burgeson RE, Ortonne JP, et al. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. Br J Dermatol 1997; 136: 817–822.

Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Toro MD, Arranz JA, et al. A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis. Mitochondrion 2016; 26: 72–80.

Rousselle P, Beck K. Laminin-332 processing impacts cellular behavior. Cell Adh Migr 2013; 7: 122–134.

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Published

2021-08-24

How to Cite

Hou, . P.-C., Natsuga, K., Tu, . W.-T., Huang, H.-Y. . ., Chen, B., Chen, L.-Y., Chen, . W.-R., Hong, . Y.-K., Tang, . Y.-A., Lee, J. Y.-Y., Chen, . P.-C., Sun, . H. S. . ., McGrath, J. A., & Hsu, C.-K. (2021). Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations. Acta Dermato-Venereologica, 101(8), adv00522. https://doi.org/10.2340/00015555-3874

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