Genetics of coenzyme q10 deficiency
M Doimo, MA Desbats, C Cerqua, M Cassina… - Molecular …, 2014 - karger.com
Abstract Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and is
involved in crucial biochemical reactions such as the production of ATP in the mitochondrial …
involved in crucial biochemical reactions such as the production of ATP in the mitochondrial …
The molecular genetics of coenzyme Q biosynthesis in health and disease
LN Laredj, F Licitra, HM Puccio - Biochimie, 2014 - Elsevier
Coenzyme Q, or ubiquinone, is an endogenously synthesized lipid-soluble antioxidant that
plays a major role in the mitochondrial respiratory chain. Although extensively studied for …
plays a major role in the mitochondrial respiratory chain. Although extensively studied for …
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation
C Holmberg, H Jalanko - Pediatric Nephrology, 2014 - Springer
Renal transplantation (RTx) is the only curative treatment for most cases of congenital and
infantile nephrotic syndrome (NS) caused by genetic defects in glomerular podocyte …
infantile nephrotic syndrome (NS) caused by genetic defects in glomerular podocyte …
Renal manifestations of genetic mitochondrial disease
JF O'Toole - International journal of nephrology and renovascular …, 2014 - Taylor & Francis
Mitochondrial diseases can be related to mutations in either the nuclear or mitochondrial
genome. Childhood presentations are commonly associated with renal tubular dysfunction …
genome. Childhood presentations are commonly associated with renal tubular dysfunction …
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome
S Lovric, H Fang, V Vega-Warner… - Clinical Journal of the …, 2014 - journals.lww.com
Results The pilot study identified the genetic cause of disease in 42 of 48 (87.5%) of the
affected individuals. The diagnostic study detected the genetic cause of disease in 16 of 48 …
affected individuals. The diagnostic study detected the genetic cause of disease in 16 of 48 …
The podocyte power-plant disaster and its contribution to glomerulopathy
J Müller-Deile, M Schiffer - Frontiers in Endocrinology, 2014 - frontiersin.org
Proper podocyte function within the glomerulus demands a high and continuous energy
supply that is mainly derived from the respiratory chain of the inner mitochondrial …
supply that is mainly derived from the respiratory chain of the inner mitochondrial …
Biochemical Diagnosis of Coenzyme Q10 Deficiency
D Yubero, R Montero, R Artuch, JM Land… - Molecular …, 2014 - karger.com
Abstract Coenzyme Q10 (CoQ10) deficiency appears to have a particularly heterogeneous
clinical presentation. However, there appear to be 5 recognisable clinical phenotypes …
clinical presentation. However, there appear to be 5 recognisable clinical phenotypes …
Clinical presentations of coenzyme q10 deficiency syndrome
Abstract Coenzyme Q 10 (CoQ 10) deficiency is a clinically and genetically heterogeneous
syndrome which has been associated with 5 major clinical phenotypes:(1) …
syndrome which has been associated with 5 major clinical phenotypes:(1) …
Analysis of COQ2gene in multiple system atrophy
K Ogaki, S Fujioka, MG Heckman, S Rayaprolu… - Molecular …, 2014 - Springer
Background Loss of function COQ2 mutations results in primary CoQ10 deficiency. Recently,
recessive mutations of the COQ2 gene have been identified in two unrelated Japanese …
recessive mutations of the COQ2 gene have been identified in two unrelated Japanese …
Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies
F Ozaltin - Pediatric nephrology, 2014 - Springer
Oxidative phosphorylation (OXPHOS) is a metabolic pathway that uses energy released by
the oxidation of nutrients to generate adenosine triphosphate (ATP). Coenzyme Q 10 (CoQ …
the oxidation of nutrients to generate adenosine triphosphate (ATP). Coenzyme Q 10 (CoQ …