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Updated: Feb 14, 2026

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
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Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay

Published on: September 27, 2024

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破壊的なCAPN6変種と神経発達障害の潜在的な関連

Francesco Calì1,2, Simone Treccarichi1, Mirella Vinci1

  • 1Oasi Research Institute-IRCCS, 94018 Troina, Italy.

International journal of molecular sciences
|February 13, 2026
PubMed
まとめ

カルパイン-6 (CAPN6) 遺伝子の新しいX関連変異が,神経発達障害を持つ家族で特定されました. このCAPN6の変異は胎盤機能に障害を与え,胎児の脳の発達に潜在的に影響を及ぼし,様々な神経学的状態につながります.

キーワード:
カルパイン6 カルパイン6次世代のシーケンシング胎盤の発達障害 胎盤の発達障害血管内皮成長因子 血管内皮成長因子

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