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Updated: Sep 10, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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ATP13A2の喪失によるリソソームポリアミンの蓄積は,リソソームのpHと静電ヒドロラゼ-脂質相互作用によってβ-グルコセブロシダスを損なう

Madhuja Samaddar1, Gabriel A Fitzgerald1, Ann Hong Nguyen1

  • 1Denali Therapeutics, Inc., South San Francisco, CA 94080, USA.

Cell reports
|August 23, 2025
PubMed
まとめ

ATP13A2変異によるライソソームポリアミンの蓄積は酵素機能を損なっており,パーキンソン病 (PD) などの神経変性疾患に寄与する. リゾソームのpHまたはビス・モノ・グリセロ・フォスファート (BMP) のレベルを回復することで,この損傷を逆転させることができます.

キーワード:
CP: 神経科学クフォー・ラケブ症候群P型ATPアゼパーキンソン病グルコセレブロシダゼグリコスフィンゴリピドリンソーム貯蔵障害ニューロンのセロイドリポフスチノシスポリアミンスペルミン

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