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Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant

mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder characterized by thymidine phosphorylase (TP) enzyme defect. The absence of TP activity induces the imbalance of mitochondrial nucleotide pool, leading to impaired mitochondrial DNA (mtDNA) replication and depl...

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Detalles Bibliográficos
Autores principales: Boschetti, Elisa, Caporali, Leonardo, D’Angelo, Roberto, Malagelada, Carolina, Accarino, Anna, Dotti, Maria Teresa, Costa, Roberta, Cenacchi, Giovanna, Pironi, Loris, Rinaldi, Rita, Stanghellini, Vincenzo, Ratti, Stefano, Manzoli, Lucia, Carelli, Valerio, De Giorgio, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9369323/
https://www.ncbi.nlm.nih.gov/pubmed/35955927
http://dx.doi.org/10.3390/ijms23158792