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Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase

Clinically relevant disease-causing variants of the human dihydrolipoamide dehydrogenase (hLADH, hE3), a common component of the mitochondrial α-keto acid dehydrogenase complexes, were characterized using a multipronged approach to unravel the molecular pathomechanisms that underlie hLADH deficiency...

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Detalles Bibliográficos
Autores principales: Szabo, Eszter, Nemes-Nikodem, Eva, Vass, Krisztina Rubina, Zambo, Zsofia, Zrupko, Eszter, Torocsik, Beata, Ozohanics, Oliver, Nagy, Balint, Ambrus, Attila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341545/
https://www.ncbi.nlm.nih.gov/pubmed/37446004
http://dx.doi.org/10.3390/ijms241310826