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Photoreceptor Cilia and Retinal Ciliopathies

Cold Spring Harbor perspectives in biology, 2017-10, Vol.9 (10), p.a028274

2017

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C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway

Scientific reports, 2018-06, Vol.8 (1), p.9679-14, Article 9679

2018

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Isolation, culture and characterization of primary mouse RPE cells

Nature protocols, 2016-07, Vol.11 (7), p.1206

2016

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Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway

Human molecular genetics, 2018-01, Vol.27 (1), p.147-159

2018

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Complement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice

Scientific reports, 2021-05, Vol.11 (1), p.10416-10416, Article 10416

2021

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Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM)

Bioinformatics, 2011-09, Vol.27 (18), p.2518-2528

2011

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Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

Ophthalmology (Rochester, Minn.), 2013-06, Vol.120 (6), p.1283-1291

2013

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Genetics in medicine, 2020-06, Vol.22 (6), p.1079-1087

2020

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Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Translational vision science & technology, 2018-07, Vol.7 (4), p.6-6

2018

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The Proteome of the Mouse Photoreceptor Sensory Cilium Complex

Molecular & cellular proteomics, 2007-08, Vol.6 (8), p.1299-1317

2007

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A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

Human molecular genetics, 2020-04, Vol.29 (6), p.967-979

2020

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In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases

Advances in experimental medicine and biology, 2019, Vol.1185, p.91-96

2019

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2010-02, Vol.86 (2), p.248-253

2010

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Expression of NMNAT1 in the photoreceptors is sufficient to prevent NMNAT1-associated retinal degeneration

Molecular therapy. Methods & clinical development, 2023-06, Vol.29, p.319-328

2023

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The Status of RPE65 Gene Therapy Trials: Safety and Efficacy

Cold Spring Harbor perspectives in medicine, 2015-09, Vol.5 (9), p.a017285-a017285

2015

Volltextzugriff (PDF)

Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor

Stem cell research, 2024-02, Vol.74, p.103280-103280, Article 103280

2024

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AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/− iPSC-Derived RPE Cells

Molecular therapy. Methods & clinical development, 2019-12, Vol.15, p.392-402

2019

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Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

American journal of human genetics, 2014-03, Vol.94 (3), p.373-384

2014

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Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP

PloS one, 2011-01, Vol.6 (1), p.e15860-e15860

2011

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Investigating cone photoreceptor development using patient-derived NRL null retinal organoids

Communications biology, 2020-02, Vol.3 (1), p.82-82, Article 82

2020

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The Retinitis Pigmentosa 1 Protein Is a Photoreceptor Microtubule-Associated Protein

The Journal of neuroscience, 2004-07, Vol.24 (29), p.6427-6436

2004

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The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa

Genes, 2017-10, Vol.8 (10), p.256

2017

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Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway

Human molecular genetics, 2018-01, Vol.27 (1), p.147-159

2018

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The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

Human molecular genetics, 2007-10, Vol.16 (20), p.2411-2422

2007

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2016-03, Vol.98 (3), p.592-592

2016

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Photoreceptor Cilia and Retinal Ciliopathies

C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway

Isolation, culture and characterization of primary mouse RPE cells

Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway

Complement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice

Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM)

Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

The Proteome of the Mouse Photoreceptor Sensory Cilium Complex

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Expression of NMNAT1 in the photoreceptors is sufficient to prevent NMNAT1-associated retinal degeneration

The Status of RPE65 Gene Therapy Trials: Safety and Efficacy

Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor

AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/− iPSC-Derived RPE Cells

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP

Investigating cone photoreceptor development using patient-derived NRL null retinal organoids

The Retinitis Pigmentosa 1 Protein Is a Photoreceptor Microtubule-Associated Protein

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa

Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

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