Lista de obras -

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

artículo científico publicado en 2009

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition

artículo científico publicado en 2015

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration

artículo científico publicado en 2013

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies ⬇️

artículo científico publicado el 17 de junio de 2011

Advances in Gene Therapy for Diseases of the Eye.

artículo científico publicado en 2016

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

artículo científico publicado en 2017

Biobased lactams as novel arthropod repellents

artículo científico publicado en 2014

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

artículo científico publicado en 2008

CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Catalytic properties of the PepQ prolidase from Escherichia coli

artículo científico publicado en 2004

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

artículo científico publicado en 2007

Cilia in photoreceptors

artículo científico publicado en 2015

Ciliary signaling cascades in photoreceptors

artículo científico publicado en 2012

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases ⬇️

artículo científico publicado el 7 de mayo de 2012

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.

scientific article published on 02 March 2016

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

artículo científico publicado en 2012

Expression and Functional Roles of Caspase-5 in Inflammatory Responses of Human Retinal Pigment Epithelial Cells ⬇️

artículo científico publicado el 7 de noviembre de 2011

Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney

scientific journal article

FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro

artículo científico publicado en 2008

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants ⬇️

artículo científico publicado el 27 de junio de 2011

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

artículo científico publicado en 2017

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

artículo científico publicado en 2012

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

artículo científico publicado en 2010

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

artículo científico publicado en 2007

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

artículo científico publicado en 2006

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

artículo científico publicado en 2010

Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas

artículo científico publicado en 2010

Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor

artículo científico publicado en 2003

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

artículo científico publicado en 2010

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy

artículo científico publicado en 2015

Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse

artículo científico publicado en 2014

Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina

artículo científico publicado en 2016

Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice

artículo científico publicado en 2015

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

artículo científico publicado en 2007

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

artículo científico publicado en 2005

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome ⬇️

artículo científico publicado el 27 de abril de 2012

Photoreceptor Sensory Cilium: Traversing the Ciliary Gate

artículo científico publicado en 2015

Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors

artículo científico publicado en 2004

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.

artículo científico publicado en 2016

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa

artículo científico publicado en 2010

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

artículo científico publicado en 2005

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

artículo científico publicado en 2009

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15

artículo científico publicado en 2012

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

artículo científico publicado en 2007

Retinoic acid regulates the expression of photoreceptor transcription factor NRL

artículo científico publicado en 2006

Stem cells with a view: a look inside a retinal ciliopathy

artículo científico publicado en 2016

Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

artículo científico publicado en 2011

Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye.

artículo científico publicado en 2012

The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo

artículo científico publicado en 2016

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

artículo científico publicado en 2006

The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein

artículo científico publicado en 2004

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

artículo científico publicado en 2010

Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL.

artículo científico publicado en 2007

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

artículo científico publicado en 2016

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

artículo científico publicado en 2019

Widespread expression of the Supv3L1 mitochondrial RNA helicase in the mouse

artículo científico publicado en 2009

XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina

artículo científico publicado en 2011

Lista de obras de

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies ⬇️

Advances in Gene Therapy for Diseases of the Eye.

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

Biobased lactams as novel arthropod repellents

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation

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

Catalytic properties of the PepQ prolidase from Escherichia coli

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

Cilia in photoreceptors

Ciliary signaling cascades in photoreceptors

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases ⬇️

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

Expression and Functional Roles of Caspase-5 in Inflammatory Responses of Human Retinal Pigment Epithelial Cells ⬇️

Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney

FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants ⬇️

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas

Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy

Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse

Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina

Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome ⬇️

Photoreceptor Sensory Cilium: Traversing the Ciliary Gate

Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

Retinoic acid regulates the expression of photoreceptor transcription factor NRL

Stem cells with a view: a look inside a retinal ciliopathy

Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye.

The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

Widespread expression of the Supv3L1 mitochondrial RNA helicase in the mouse

XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina