List of works - Paul Sieving

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

scientific article

A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific article published on September 10, 2010

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

scientific article

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

scientific article

A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation

scientific article published in September 2004

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

scientific article published on 14 May 2010

AAVrh-10 transduces outer retinal cells in rodents and rabbits following intravitreal administration

scientific article published on 15 July 2019

Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease

scientific article

Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts

scientific journal article

At the frontier of vision research: the National Eye Institute celebrates 40 years

scientific article

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein

scientific article

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

scientific article (publication date: 15 May 1999)

Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.

scientific article

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

scientific article

Biology of Retinoschisin ⬇️

scientific article published on January 1, 2012

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

scientific article

CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function

scientific article

CNTF and retina ⬇️

scientific article (publication date: March 2012)

Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants

scholarly article

Clinical course and visual function in a family with mutations in the RPE65 gene

scientific article (publication date: 2002)

Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.

scientific article published on 10 January 2019

Depleting Rac1 in mouse rod photoreceptors protects them from photo-oxidative stress without affecting their structure or function

scholarly article

Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration

scientific article published on 08 December 2008

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

scientific article (publication date: 18 February 2003)

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities

scientific article

GNAT1 associated with autosomal recessive congenital stationary night blindness

scientific article published on 13 March 2012

Galactose Induces Formation of Chains of the Retinal Adhesion Protein, Retinoschisin

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

scientific article

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

scientific article

Identification and characterization of two mature isoforms of retinoschisin in murine retina

scientific article published on 10 August 2006

Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia

scientific article

Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease

scientific article

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

scientific article

Limits to growth: why neuroscience needs large-scale science

scientific article

Long-term 12 year follow-up of X-linked congenital retinoschisis

scientific article

Loss of Retinoschisin (RS1) Cell Surface Protein in Maturing Mouse Rod Photoreceptors Elevates the Luminance Threshold for Light-Driven Translocation of Transducin But Not Arrestin ⬇️

scientific article published on September 19, 2012

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells

scientific article

Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease ⬇️

scientific article published on November 1, 2010

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes

scientific article

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene

scientific article (publication date: 24 January 2003)

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

scientific article

NADPH Oxidase Contributes to Photoreceptor Degeneration in Constitutively Active RAC1 Mice

scientific article published on May 2016

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

scientific article (publication date: 1999)

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study

scientific article published on 27 May 2009

Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice

scientific article published on 16 March 2016

Organization and molecular interactions of retinoschisin in photoreceptors

scientific article published on January 2008

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 ⬇️

scientific article published on October 21, 2003

Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina

scientific article published on 25 April 2016

Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation

scientific article

Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function

scientific article published on April 2016

Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits

scientific article

Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness

scientific article

Probing potassium channel function in vivo by intracellular delivery of antibodies in a rat model of retinal neurodegeneration

scientific article

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis

scientific journal article

RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism ⬇️

scientific article

Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome

scientific article published on March 2017

Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery

article

Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography

scientific article published on July 2016

Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study

scientific article

Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations

scientific journal article

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

scientific article

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy

scientific article

Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes

scientific article published on 30 August 2005

Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer

scientific article

Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery

scientific article published on August 2008

Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis

scientific article

The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis

scientific article

Trans-Ocular Electric Current In Vivo Enhances AAV-Mediated Retinal Transduction in Large Animal Eye After Intravitreal Vector Administration

scientific article published on 24 June 2020

Transgenic expression of constitutively active RAC1 disrupts mouse rod morphogenesis

scientific article published on 25 April 2014

List of works by Paul Sieving

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa ⬇️

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

AAVrh-10 transduces outer retinal cells in rodents and rabbits following intravitreal administration

Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease

Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts

At the frontier of vision research: the National Eye Institute celebrates 40 years

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

Biology of Retinoschisin ⬇️

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function

CNTF and retina ⬇️

Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants

Clinical course and visual function in a family with mutations in the RPE65 gene

Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.

Depleting Rac1 in mouse rod photoreceptors protects them from photo-oxidative stress without affecting their structure or function

Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities

GNAT1 associated with autosomal recessive congenital stationary night blindness

Galactose Induces Formation of Chains of the Retinal Adhesion Protein, Retinoschisin

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Identification and characterization of two mature isoforms of retinoschisin in murine retina

Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia

Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

Limits to growth: why neuroscience needs large-scale science

Long-term 12 year follow-up of X-linked congenital retinoschisis

Loss of Retinoschisin (RS1) Cell Surface Protein in Maturing Mouse Rod Photoreceptors Elevates the Luminance Threshold for Light-Driven Translocation of Transducin But Not Arrestin ⬇️

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells

Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease ⬇️

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

NADPH Oxidase Contributes to Photoreceptor Degeneration in Constitutively Active RAC1 Mice

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study

Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice

Organization and molecular interactions of retinoschisin in photoreceptors

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 ⬇️

Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina

Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation

Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function

Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits

Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness

Probing potassium channel function in vivo by intracellular delivery of antibodies in a rat model of retinal neurodegeneration

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis

RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism ⬇️

Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome

Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery

Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography

Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study

Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy

Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes

Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer

Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery

Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis

The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis

Trans-Ocular Electric Current In Vivo Enhances AAV-Mediated Retinal Transduction in Large Animal Eye After Intravitreal Vector Administration

Transgenic expression of constitutively active RAC1 disrupts mouse rod morphogenesis