5 documents found, page 1 of 1
Syndromes associated with mitochondrial DNA depletion
Nogueira, Célia; Almeida, Ligia S.; Nesti, C.; Pezzini, I.; Videira, A.; Vilarinh, Laura; Santorelli, F.M.Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy production. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or...
A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalo...
Nogueira, Célia; Meschini, M.C.; Nesti, C.; Garcia, P.; Diogo, L.; Valongo, C.; Costa, R.; Videira, A.; Vilarinho, L.; Santorelli, F.M.Succinyl-coenzyme A synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and adenosine triphosphate (ATP) from succinyl-coenzyme A and adenosine diphosphate (ADP) in the tricarboxylic acid cycle. This enzyme is made up of α and β subunits encoded by SUCLG1 and SUCLA2, respectively. We present a child with severe muscular hypotonia, dystonia, failure to thrive, sensorine...
Identification of maternal uniparental isodisomy of chromosome 10 in a patient ...
Nogueira, Célia; Marques, J.S.; Nesti, C.; Azevedo, A.; Di Lullo, M.; Meschini, M.C.; Orlacchio, A.; Videira, A.; Santorelli, F.M.; Vilarinho, L.Introduction: Twinkle, the mitochondrial helicase encoded by C10orf2, serves a key function in mtDNA replication and its mutations associated with a broad spectrum of clinical conditions characterized by qualitative or quantitative defects of mtDNA, including infantile-onset spinocerebellar ataxia (IOSCA), progressive external ophthalmoplegia, and the hepatocerebral mtDNA depletion syndrome (MDS). The signs in ...
Pulsed current electrodeposition of Zn-Ag2S/TiO2 nanocomposite films as potenti...
Gomes, A.; Videira, A.; Monteiro, O. C.; Nunes, C. D.; Carvalho, M. L.; Lopes, A. B.Nanocomposite Zn-Ag2S/TiO2 and Zn-TiO2 films were prepared by pulsed current electrolysis from acidic zinc sulphate solutions on a titanium substrate. The influence of the nanoparticles' nature on the structural and morphological characteristics of the metallic electrodeposit was also investigated. The electrodeposits were characterized by X-ray diffraction and scanning electron microscopy coupled with energy-d...
Progressive cavitating leukoencephalopathy associated with respiratory chain co...
Ferreira, M.; Torraco, A.; Rizza, T.; Fattori, F.; Meschini, M.C.; Castana, C.; Go, N.E.; Nargang, F.E.; Duarte, M.; Piemonte, F.; Dionisi-Vici, C.We present clinical, neuroimaging, and molecular data on the identification of a new homozygous c.1783A>G (p.Thr595Ala) mutation in NDUFS1 in two inbred siblings with isolated complex I deficiency associated to a progressive cavitating leukoencephalopathy, a clinical and neuroradiolog- ical entity originally related to unknown defects of the mitochondrial energy metabolism. In both sibs, the muscle biopsy showe...