Primary coenzyme Q10 deficiency: an update
D Mantle, L Millichap, J Castro-Marrero, IP Hargreaves - Antioxidants, 2023 - mdpi.com
Coenzyme Q10 (CoQ10) has a number of vital functions in all cells, both mitochondrial and
extra-mitochondrial. In addition to its key role in mitochondrial oxidative phosphorylation …
extra-mitochondrial. In addition to its key role in mitochondrial oxidative phosphorylation …
Childhood nephrotic syndrome
Idiopathic nephrotic syndrome is the most common glomerular disease in children.
Corticosteroids are the cornerstone of its treatment, and steroid response is the main …
Corticosteroids are the cornerstone of its treatment, and steroid response is the main …
Increased risk of kidney failure in patients with genetic kidney disorders
BACKGROUND It is unknown whether the risk of kidney disease progression and failure
differs between patients with and without genetic kidney disorders. METHODS Three cohorts …
differs between patients with and without genetic kidney disorders. METHODS Three cohorts …
[HTML][HTML] State of the art in childhood nephrotic syndrome: concrete discoveries and unmet needs
Nephrotic syndrome (NS) is a clinical entity characterized by proteinuria, hypoalbuminemia,
and peripheral edema. NS affects about 2–7 per 100,000 children aged below 18 years old …
and peripheral edema. NS affects about 2–7 per 100,000 children aged below 18 years old …
[HTML][HTML] Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of
organ involvement, including steroid-resistant nephrotic syndrome mainly associated with …
organ involvement, including steroid-resistant nephrotic syndrome mainly associated with …
Mechanisms of podocyte injury in genetic kidney disease
N Mann, H Sun, AJ Majmundar - Pediatric Nephrology, 2024 - Springer
Glomerular diseases are a leading cause of chronic kidney disease worldwide. Both
acquired and hereditary glomerulopathies frequently share a common final disease …
acquired and hereditary glomerulopathies frequently share a common final disease …
Gene therapy for mitochondrial disorders
In this review, we detail the current state of application of gene therapy to primary
mitochondrial disorders (PMDs). Recombinant adeno‐associated virus‐based (rAAV) gene …
mitochondrial disorders (PMDs). Recombinant adeno‐associated virus‐based (rAAV) gene …
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population
Collapsing glomerulopathy (CG) is most often associated with fast progression to kidney
failure with an incidence apparently higher in Brazil than in other countries. However, the …
failure with an incidence apparently higher in Brazil than in other countries. However, the …
Syndromic Retinitis Pigmentosa
JS Karuntu, H Almushattat, AS Plomp… - Progress in Retinal and …, 2024 - Elsevier
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders
A Wahedi, S Sudhakar, A Lam, JIR Ciancio… - Neurology …, 2024 - neurology.org
Background and Objectives Disorders of coenzyme Q10 (CoQ10) biosynthesis comprise a
group of 11 clinically and genetically heterogeneous rare primary mitochondrial diseases …
group of 11 clinically and genetically heterogeneous rare primary mitochondrial diseases …