A disease-associated Aifm1 variant induces severe myopathy in knockin mice

• 主要な著者: Lena Wischhof (著者), Anna Gioran (著者), Dagmar Sonntag-Bensch (著者), Antonia Piazzesi (著者), Miriam Stork (著者), Pierluigi Nicotera (著者), Daniele Bano (著者)
• フォーマット: 図書
• 出版事項: Elsevier, 2018-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Objective: Mutations in the AIFM1 gene have been identified in recessive X-linked mitochondrial diseases. Functional and molecular consequences of these pathogenic AIFM1 mutations have been poorly studied in vivo. Methods/results: Here we provide evidence that the disease-associated apoptosis-induci...