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Updated: Sep 8, 2025

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低ミエリン性白血病: 分子機構 から 臨床 の 進歩 へ

Hitoshi Osaka1, Ken Inoue2

  • 1Dept. of Pediatrics, Jichi Medical School, Japan.

Brain & development
|September 6, 2025
PubMed
まとめ

低ミエリン性白血病 (HLD) は,ミエリン形成の障害を伴う. 異なる遺伝子の変異が 異なる病気の経路を引き起こし これらの珍しい神経疾患の 診断と治療戦略に影響します

キーワード:
GJC2 (ギャップジャンクションタンパク質C2)低ミエリン性白血病 (HLD)POLR3A/POLR3B (RNAポリメラーゼIIIサブユニット)ペリザエウス・メルツバッハ病 (PMD)SOX10 (SRYボックスの転写因子10)TUBB4A (チューブリンβ-4A)展開されたタンパク質応答 (UPR)

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