Papa S, Petruzzella V, Scacco S, Sardanelli A, Iuso A, Panelli D, et al. Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases. Biochim Biophys Acta. 2009;1787:502-17 pubmed publisher
Papa S, Scacco S, Sardanelli A, Vergari R, Papa F, Budde S, et al. Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. FEBS Lett. 2001;489:259-62 pubmed
..These findings show for the first time that human complex I is regulated via phosphorylation of the subunit encoded by the NDUFS4 gene. ..
Papa S, Petruzzella V, Scacco S, Vergari R, Panelli D, Tamborra R, et al. Respiratory complex I in brain development and genetic disease. Neurochem Res. 2004;29:547-60 pubmed
..All the NDUFS4 mutations resulted in impairment of the assembly of a functional complex. The observations presented provide evidence showing a critical role of complex I in differentiation and functional activity of brain cells. ..
Papa S, Sardanelli A, Capitanio N, Piccoli C. Mitochondrial respiratory dysfunction and mutations in mitochondrial DNA in PINK1 familial parkinsonism. J Bioenerg Biomembr. 2009;41:509-16 pubmed publisher
..The presence of these mutations appears to have an impact on the development of the parkinsonism, which can also occur in the heterozygous PINK1 mutation state. ..