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Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease

Genes, 2019-07, Vol.10 (8), p.557

2019

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Polycystic liver disease: ductal plate malformation and the primary cilium

Trends in molecular medicine, 2014-05, Vol.20 (5), p.261-270

2014

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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

American journal of human genetics, 2014-09, Vol.95 (3), p.257-274

2014

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Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9

Stem cell research, 2023-04, Vol.68, p.103053-103053, Article 103053

2023

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A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

Human molecular genetics, 2008-01, Vol.17 (1), p.71-86

2008

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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

PLoS genetics, 2015-10, Vol.11 (10), p.e1005575-e1005575

2015

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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

American journal of human genetics, 2017-11, Vol.101 (5), p.824-832

2017

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A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

Cell reports (Cambridge), 2019-08, Vol.28 (7), p.1907-1922.e6

2019

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Protein networks and complexes in photoreceptor cilia

Sub-cellular biochemistry, 2007, Vol.43, p.209

2007

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Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis

PloS one, 2013-11, Vol.8 (11), p.e79369-e79369

2013

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

Human molecular genetics, 2015-03, Vol.24 (6), p.1584-1601

2015

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

The Journal of clinical investigation, 2011-06, Vol.121 (6), p.2169-2180

2011

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Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis

Human molecular genetics, 2014-08, Vol.23 (15), p.3923-3942

2014

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Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

JCI insight, 2023-05, Vol.8 (10)

2023

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Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry

Molecular & cellular proteomics, 2014-05, Vol.13 (5), p.1382-1391

2014

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Composition and function of the Crumbs protein complex in the mammalian retina

Experimental eye research, 2008-05, Vol.86 (5), p.713-726

2008

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DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Scientific reports, 2015-07, Vol.5 (1), p.11649-11649, Article 11649

2015

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PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia

Cells (Basel, Switzerland), 2023-01, Vol.12 (2), p.312

2023

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Moonlighting of mitotic regulators in cilium disassembly

Cellular and molecular life sciences : CMLS, 2021-06, Vol.78 (11), p.4955-4972

2021

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Towards understanding CRUMBS function in retinal dystrophies

Human molecular genetics, 2006-10, Vol.15 (suppl-2), p.R235-R243

2006

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Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations

Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (51), p.18520-18525

2005

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CRB1 mutation spectrum in inherited retinal dystrophies

Human mutation, 2004-11, Vol.24 (5), p.355-369

2004

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Subunits of Mitochondrial Complex I Exist as Part of Matrix- and Membrane-associated Subcomplexes in Living Cells

The Journal of biological chemistry, 2008-12, Vol.283 (50), p.34753-34761

2008

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Versatile screening for binary protein-protein interactions by yeast two-hybrid mating

Methods in molecular biology (Clifton, N.J.), 2008, Vol.484, p.145

2008

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Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease

Polycystic liver disease: ductal plate malformation and the primary cilium

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

Protein networks and complexes in photoreceptor cilia

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis

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

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

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry

Composition and function of the Crumbs protein complex in the mammalian retina

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia

Moonlighting of mitotic regulators in cilium disassembly

Towards understanding CRUMBS function in retinal dystrophies

Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations

CRB1 mutation spectrum in inherited retinal dystrophies

Subunits of Mitochondrial Complex I Exist as Part of Matrix- and Membrane-associated Subcomplexes in Living Cells

Versatile screening for binary protein-protein interactions by yeast two-hybrid mating

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