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Updated: Apr 11, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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インドの患者における家族性血細胞性リンパヒスティオシトーシス2型に関連したパーフェリン変異の分子動態シミュレーション

Anand Badhri Narayan1, Everette Jacob Remington Nelson1

  • 1Gene Therapy Laboratory, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632 014, TN, India.

International journal of biological macromolecules
|August 30, 2025
PubMed
まとめ

パーフェルリン-1 (PFP) の病原性突然変異は,その構造を破壊し,免疫細胞の機能を損ない,血細胞性リンパヒスティオシトーシスを引き起こします. PFPの構造の変化を理解することは この重症疾患の新たな治療法の開発の鍵です

キーワード:
ヘモファゴサイトリンパヒスティオシトーシスミッセンスの変異分子ダイナミクスシミュレーションPRF1 について

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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