A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2

Biochim Biophys Acta Mol Basis Dis. 2023 Jun;1869(5):166692. doi: 10.1016/j.bbadis.2023.166692. Epub 2023 Mar 16.
No abstract available

Keywords: Chronic obstructive lung disease; Idiopathic pulmonary fibrosis; NHP2 mutation; Telomerase complex.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma* / pathology
  • Humans
  • Idiopathic Pulmonary Fibrosis* / genetics
  • Idiopathic Pulmonary Fibrosis* / metabolism
  • Idiopathic Pulmonary Fibrosis* / pathology
  • Lung / metabolism
  • Lung Neoplasms* / metabolism
  • Mutation
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Pulmonary Disease, Chronic Obstructive* / genetics
  • Pulmonary Disease, Chronic Obstructive* / pathology
  • Ribonucleoproteins, Small Nuclear / genetics
  • Ribonucleoproteins, Small Nuclear / metabolism

Substances

  • NHP2 protein, human
  • Nuclear Proteins
  • Ribonucleoproteins, Small Nuclear