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Patricio Fernandez
Researcher at Boston Children's Hospital
Publications - 2
Citations - 893
Patricio Fernandez is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Gene & Peptide sequence. The author has an hindex of 2, co-authored 2 publications receiving 865 citations.
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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
Giorgio Casari,Maurizio De Fusco,Sonia Ciarmatori,Massimo Zeviani,Marina Mora,Patricio Fernandez,Giuseppe De Michele,Alessandro Filla,Sergio Cocozza,Roberto Marconi,Alexandre Dürr,Bertrand Fontaine,Andrea Ballabio +12 more
TL;DR: Analysis of muscle biopsies from two patients carrying Paraplegin mutations showed typical signs of mitochondrial OXPHOS defects, thus suggesting a mechanism for neurodegeneration in HSP-type disorders.
Journal ArticleDOI
Identification and Characterization of Human cDNAs Specific to BCS1, PET112, SCO1, COX15, and COX11, Five Genes Involved in the Formation and Function of the Mitochondrial Respiratory Chain ☆
Vittoria Petruzzella,Valeria Tiranti,Patricio Fernandez,Paola Ianna,Rosalba Carrozzo,Massimo Zeviani +5 more
TL;DR: Genes controlling the structure/function of the respiratory chain complexes are attractive candidates for human mitochondrial disorders such as Leigh disease, but both sequence analysis and functional complementation assays on an index patient do not support an etiological role for any of these genes.