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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...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Royal Society
2023
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Materias: | |
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 |