Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients

Mandibular hypoplasia, Deafness and Progeroid features with concomitant Lipodystrophy is a rare, genetic, premature aging disease named MDPL Syndrome, due to almost always a de novo variant in POLD1 gene, encoding the DNA polymerase δ. In previous in vitro studies, we have already described several...

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Detalles Bibliográficos
Autores principales: Murdocca, Michela, Spitalieri, Paola, Cappello, Angela, Colasuonno, Fiorella, Moreno, Sandra, Candi, Eleonora, D'Apice, Maria Rosaria, Novelli, Giuseppe, Sangiuolo, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8908938/
https://www.ncbi.nlm.nih.gov/pubmed/35196257
http://dx.doi.org/10.18632/aging.203910

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8908938/
https://www.ncbi.nlm.nih.gov/pubmed/35196257
http://dx.doi.org/10.18632/aging.203910

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