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Article
Open AccessAdvances and potential of regenerative medicine in pediatric nephrology
The endogenous capacity of the kidney to repair is limited, and generation of new nephrons after injury for adequate function recovery remains a need. Discovery of factors that promote the endogenous regenerat...
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Article
Open AccessPrimary cilia suppress Ripk3-mediated necroptosis
Cilia are sensory organelles that project from the surface of almost all cells. Nephronophthisis (NPH) and NPH-related ciliopathies are degenerative genetic diseases caused by mutation of cilia-associated gene...
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Article
Open AccessUrine-derived cells: a promising diagnostic tool in Fabry disease patients
Fabry disease is a lysosomal storage disorder resulting from impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene. Currently, powerful diagnostic tools and in vivo research mo...
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Article
Nephronophthisis: should we target cysts or fibrosis?
Ciliopathy nephronophthisis (NPHP), a common cause of end-stage renal disease (ESRD) in children and young adults, is characterized by disintegration of the tubular basement membrane accompanied by irregular t...
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Article
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
The ciliary transition zone (TZ) at the base of cilia is thought to gate entry of proteins into the cilium. The authors characterize a role for TMEM107, a protein mutated in the ciliopathy Joubert syndrome, in...
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Article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance...
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Article
Open AccessNon-invasive sources of cells with primary cilia from pediatric and adult patients
Ciliopathies give rise to a multitude of organ-specific pathologies; obtaining relevant primary patient material is useful for both diagnostics and research. However, acquisition of primary ciliated cells from...
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Article
Open AccessThe SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium
The multinational SYSCILIA consortium aims to gain a mechanistic understanding of the cilium. We utilize multiple parallel high-throughput (HTP) initiatives to develop predictive models of relationships betwee...
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Article
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
Friedhelm Hildebrandt, Agata Smogorzewska and colleagues show that mutations in the DNA repair gene FAN1 cause karyomegalic interstitial nephritis. These findings implicate deficient DNA damage response signaling...
