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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Detalles Bibliográficos
Autores principales: Diquigiovanni, Chiara, Rizzardi, Nicola, Kampmeier, Antje, Liparulo, Irene, Bianco, Francesca, De Nicolo, Bianca, Cataldi-Stagetti, Erica, Cuna, Elisabetta, Severi, Giulia, Seri, Marco, Bertrand, Miriam, Haack, Tobias B., Marina, Adela Della, Braun, Frederik, Fato, Romana, Kuechler, Alma, Bergamini, Christian, Bonora, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Royal Society 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335854/
https://www.ncbi.nlm.nih.gov/pubmed/37433330
http://dx.doi.org/10.1098/rsob.230040

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