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List of works by Ronald Roepman

A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes

scientific article

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain

scientific article

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

scientific article

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

scientific article

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

scientific article

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

scientific journal article

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

scientific article

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

scientific article

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

scientific article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex

scientific article

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

scientific article

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

scientific article

MPP1 links the Usher protein network and the Crumbs protein complex in the retina

scientific article

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

scientific article

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

scientific article

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

scientific journal article

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

scientific article

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

scientific article

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