Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3

Multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia (MMDS2) is a severe disorder of mitochondrial energy metabolism, associated with biallelic mutations in the gene encoding for BOLA3, a protein with a not yet completely understood role in iron-sulfur (Fe-S) cluster biogenesis,...

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Detalles Bibliográficos
Autores principales: Bargagna, Beatrice, Banci, Lucia, Camponeschi, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10380394/
https://www.ncbi.nlm.nih.gov/pubmed/37511493
http://dx.doi.org/10.3390/ijms241411734

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10380394/
https://www.ncbi.nlm.nih.gov/pubmed/37511493
http://dx.doi.org/10.3390/ijms241411734

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