Video Experimental Relacionado

Updated: Feb 20, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.4K

Variante V1646Cfs*7 del dominio GAP de TSC2 que altera la estabilidad de la proteína y las redes de interacción en el

Kagistia Hana Utami1, Velda X Han2,3, Nur Amirah Bte Mohammad Yusof4

  • 1Keio University Regenerative Medicine Research Center, Kawasaki, Japan.

Neurology. Genetics
|February 19, 2026
PubMed
Resumen

Una nueva variante genética del complejo de esclerosis tuberosa (TSC) (TSC2 p.V1646Cfs*7) causa una proteína truncada, lo que conduce a una degradación acelerada y afecta el metabolismo del ARN y la mitofagia. Esto profundiza la comprensión de la patogénesis de la TSC y los enfoques de medicina de precisión.

Palabras clave:
esclerosis tuberosaTSC2proteína truncadadegradación de proteínasmetabolismo del ARNmitofagiamedicina de precisión

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