Urinary losses of macromolecules in nephrotic syndrome (NS) reflect a dysfunction of the
highly permselective glomerular filtration barrier. Genetic studies of hereditary forms of NS …

This review deals with podocyte proteins that play a significant role in the structure and
function of the glomerular filter. Genetic linkage studies has identified several genes …

Coenzyme Q 10 is a mobile lipophilic electron carrier located in the inner mitochondrial
membrane. Defects of coenzyme Q 10 biosynthesis represent one of the few treatable …

Mutations in the canonical transient receptor potential channel TRPC6 lead to an autosomal
dominant form of human kidney disease characterized histologically by focal and segmental …

In the past 50 years, our understanding of the biochemical and molecular causes of
mitochondrial diseases, defined restrictively as disorders due to defects of the mitochondrial …

Mitochondrial ATP synthase plays a central role in cell function by synthesising most of the
ATP in human tissues. In different cells, active regulation of mitochondrial ATP synthase in …

A brief and comprehensive review on mitochondrial cytopathies is reported showing the
extreme clinical and genetic heterogeneity of these disorders. Syndromes of mitochondrial …

细胞在健康和疾病状态下都有可能转换为足细胞. COL4A3/ 小鼠出现硬化性Alport
样肾小球病, 骨髓来源的干细胞能转化为足细胞, 导致GBM 中IV 型胶原的部分重建[16] …

Chronic complications of diabetes represent a major medical and economical concern. It is
an imperative need to establish the pathogenic mechanisms that contribute to development …

I nborn errors of metabolism can be classified in three groups (Saudubray et al., 2006).
Group 1 includes inborn errors of intermediary metabolism that give rise to an acute or …