Lista de obras - Ronald Roepman - Dominio Público Uruguay

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

Lista de obras de Ronald Roepman

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

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

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

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

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

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

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

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

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

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

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

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

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

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

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

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

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

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

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

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