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Updated: Feb 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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稀なSORL1変異の機能的影響のマーカーとして,脳脊髄液に溶けるSORL1を使用しています

Matthijs W J de Waal1,2,3, Sven J van der Lee1,3,4, Melanie Lunding5

  • 1Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|February 13, 2026
PubMed
まとめ

溶性ソルチリン関連受容体 (sSORL1) の脳脊髄液 (CSF) のレベルは,遺伝的SORL1変異を有する個体では低い. この発見は,神経学的状態におけるSORL1経路機能障害の潜在的なバイオマーカーとしてCSF-sSORL1を支持する.

キーワード:
アルツハイマー病 アルツハイマー病SORL1 (ソルル) とは脳脊髄液 (CSF) とはミッセンセスの変種 ミッセンセスの変種定量免疫測定法による定量免疫測定法溶解性SORL1 (sSORL1) は,溶解性SORL1 (sSORL1) と呼ばれている.

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