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pro vyhledávání: '"Eulàlia Segur-Bailach"'
Autor:
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, María José Barallobre, Maria Lourdes Arbonés, Sabrina Gea-Sorlí, Frederic Tort, Antonia Ribes, Judit García-Villoria, Cristina Fillat
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 3, Pp 101276- (2024)
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder caused by a deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), with accumulation of neurotoxic metabolites, resulting in a complex movement disorder, irreversible brain damage
Externí odkaz:
https://doaj.org/article/592b220094f1481fa456c9ea81e1525a
Autor:
Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort, Laura Texido, Celia Painous, Yaroslau Compta, Maria José Martí, Antonia Ribes, Laura Gort
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 6; Pages: 1749
The association between Parkinson’s disease (PD) and mutations in genes involved in lysosomal and mitochondrial function has been previously reported. However, little is known about the involvement of other genes or cellular mechanisms. We aim to i