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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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