Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

V Emmanuele, LC López, A Berardo, A Naini… - Archives of …, 2012 - jamanetwork.com
Coenzyme Q 10 (CoQ 10) deficiency has been associated with 5 major clinical phenotypes:
encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia …

Renal involvement in mitochondrial cytopathies

F Emma, E Bertini, L Salviati, G Montini - Pediatric nephrology, 2012 - Springer
Mitochondrial cytopathies constitute a group of rare diseases that are characterized by their
frequent multisystemic involvement, extreme variability of phenotype and complex genetics …

Ubiquinone (coenzyme Q10) prevents renal mitochondrial dysfunction in an experimental model of type 2 diabetes

KC Sourris, BE Harcourt, PH Tang, AL Morley… - Free Radical Biology …, 2012 - Elsevier
Cardiovascular benefits of ubiquinone have been previously demonstrated, and we
administered it as a novel therapy in an experimental model of type 2 diabetic nephropathy …

[HTML][HTML] How many ways can a podocyte die?

PL Tharaux, TB Huber - Seminars in nephrology, 2012 - Elsevier
Podocytes are highly specialized epithelial cells that line the urinary surface of the
glomerular capillary tuft. To maintain kidney filtration, podocytes oppose the high …

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q10 deficiency

S Rahman, CF Clarke, M Hirano - Neuromuscular disorders, 2012 - Elsevier
An ENMC meeting was held in Naarden, the Netherlands (July 9th–11th 2010) with 12
clinical and basic scientists and three industrial representatives from Europe (France …

CoQ10 deficiencies and MNGIE: two treatable mitochondrial disorders

M Hirano, C Garone, CM Quinzii - Biochimica et Biophysica Acta (BBA) …, 2012 - Elsevier
BACKGROUND: Although causative mutations have been identified for numerous
mitochondrial disorders, few disease-modifying treatments are available. Two examples of …

Pathobiology of focal segmental glomerulosclerosis: new developments

VD D'Agati - Current opinion in nephrology and hypertension, 2012 - journals.lww.com
FSGS is caused by a complex interplay of inherent genetic susceptibilities and external
injurious factors acting on podocytes. Critical levels of podocyte stress eventuate in …

Progress in pathogenesis of proteinuria

A Zhang, S Huang - International journal of nephrology, 2012 - Wiley Online Library
Aims. Proteinuria not only is a sign of kidney damage, but also is involved in the progression
of renal diseases as an independent pathologic factor. Clinically, glomerular proteinuria is …

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)

R Horvath - Journal of inherited metabolic disease, 2012 - Springer
Riboflavin and ubiquinone (Coenzyme Q 10, CoQ 10) deficiencies are heterogeneous
groups of autosomal recessive conditions affecting both children and adults. Riboflavin …

Effects of Inhibiting CoQ10 Biosynthesis with 4-nitrobenzoate in Human Fibroblasts

CM Quinzii, S Tadesse, A Naini, M Hirano - PloS one, 2012 - journals.plos.org
Coenzyme Q10 (CoQ10) is a potent lipophilic antioxidant in cell membranes and a carrier of
electrons in the mitochondrial respiratory chain. We previously characterized the effects of …