Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

Pathogenic variants in SPART cause Troyer syndrome, characterized by lower extremity spasticity and weakness, short stature and cognitive impairment, and a severe mitochondrial impairment. Herein, we report the identification of a role of Spartin in nuclear-encoded mitochondrial proteins. SPART bial...

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Bibliographic Details
Main Authors: Chiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, Irene Liparulo, Francesca Bianco, Bianca De Nicolo, Erica Cataldi-Stagetti, Elisabetta Cuna, Giulia Severi, Marco Seri, Miriam Bertrand, Tobias B. Haack, Adela Della Marina, Frederik Braun, Romana Fato, Alma Kuechler, Christian Bergamini, Elena Bonora
Format: Article
Language:English
Published: The Royal Society 2023-07-01
Series:Open Biology
Subjects:
SPG20
Spartin
bioenergetics
mitochondrial protein import
Coenzyme Q
Online Access:https://royalsocietypublishing.org/doi/10.1098/rsob.230040

Internet

https://royalsocietypublishing.org/doi/10.1098/rsob.230040

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