Mutations in RPGRIP1L result in severe human diseases called ciliopathies. To unravel the
molecular function of RPGRIP1L, we analyzed Rpgrip1l−/− mouse embryos, which display a …

RPGRIP1L is an evolutionary highly conserved gene encoding a protein that localises at the
transition zone of primary cilia. Mutations in RPGRIP1L result in ciliopathies, severe human …

A range of severe human diseases called ciliopathies is caused by the dysfunction of
primary cilia. Primary cilia are cytoplasmic protrusions consisting of the basal body (BB), the …

Mutations in transition zone genes change the composition of the ciliary proteome. We
isolated new mutations in RPGRIP1L (denotated as RPG1 in algae) that affect the …

Previously, macroautophagy/autophagy was demonstrated to be regulated inter alia by the
primary cilium. Mutations in RPGRIP1L cause ciliary dysfunctions resulting in severe human …

Ciliopathies are life‐threatening human diseases caused by defective cilia. They can often
be traced back to mutations of genes encoding transition zone (TZ) proteins demonstrating …

Recent studies have established ciliary dysfunction as the underlying cause of a broad
range of multi-organ phenotypes, known as 'ciliopathies'. Ciliopathy-associated proteins …

Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber
congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy …

Ciliopathies encompass a group of genetic disorders characterized by defects in the
formation, maintenance, or function of cilia. Retinitis pigmentosa (RP) is frequently one of the …

Despite rapid advances in the identification of genes involved in disease, the predictive
power of the genotype remains limited, in part owing to poorly understood effects of second …