The architectural design of our kidneys is amazingly complex, and culminates in the 3D
structure of the glomerular filter. During filtration, plasma passes through a sieve consisting …

Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has
furthered the understanding of the pathogenesis of this disease. Here, using a combination …

Cockayne syndrome is a rare inherited disorder characterized by accelerated aging,
cachectic dwarfism and many other features. Recent work has implicated mitochondrial …

The Nephrotic Syndrome Study Network (NEPTUNE) is a North American multicenter
collaborative consortium established to develop a translational research infrastructure for …

Background Multiple-system atrophy is an intractable neurodegenerative disease
characterized by autonomic failure in addition to various combinations of parkinsonism …

Results Analysis revealed known and novel disease-associated variations in expected
genes such as NPHS1, NPHS2, and PLCe1 in 19% of patients. Phenotypically unexpected …

Mitochondria are crucial organelles that produce and deliver adenosine triphosphate (ATP),
by which all cellular processes are driven. Although the mechanisms that control …

Autosomal recessive cerebellar ataxia 2 (ARCA2) is a recently identified recessive ataxia
due to ubiquinone deficiency and biallelic mutations in the ADCK3 gene. The phenotype of …

Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic
heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome …

Ubiquinone (UQ), also known as coenzyme Q (CoQ), is a redox-active lipid present in all
cellular membranes where it functions in a variety of cellular processes. The best known …