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10 p, 2.5 MB Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant / Boschetti, Elisa (IRCCS Azienda Ospedaliero-Universitaria di Bologna) ; Caporali, Leonardo (IRCCS Istituto delle Scienze Neurologiche di Bologna) ; D'Angelo, Roberto (IRCCS Azienda Ospedaliero-Universitaria di Bologna) ; Malagelada Prats, Carolina (Hospital Universitari Vall d'Hebron) ; Accarino, Ana María (Hospital Universitari Vall d'Hebron) ; Dotti, Maria Teresa (University of Siena) ; Costa, Roberta (University of Bologna) ; Cenacchi, Giovanna (IRCCS Azienda Ospedaliero-Universitaria di Bologna) ; Pironi, Loris (University of Bologna) ; Rinaldi, Rita (IRCCS Azienda Ospedaliero-Universitaria di Bologna) ; Stanghellini, Vincenzo (University of Bologna) ; Ratti, Stefano (University of Bologna) ; Manzoli, Lucia (University of Bologna) ; Carelli, Valerio (IRCCS Istituto delle Scienze Neurologiche di Bologna) ; De Giorgio, Roberto (University of Ferrara) ; Universitat Autònoma de Barcelona
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 depletion. [...]
2022 - 10.3390/ijms23158792
International journal of molecular sciences, Vol. 23 (august 2022)  

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