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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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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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Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1677-1689

2021

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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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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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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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Towards understanding CRUMBS function in retinal dystrophies

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

2006

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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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Non-syndromic retinal ciliopathies: translating gene discovery into therapy

Human molecular genetics, 2012-10, Vol.21 (1), p.R111-R124

2012

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PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion

Human molecular genetics, 2022-08, Vol.31 (15), p.2560-2570

2022

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Usher syndrome: molecular links of pathogenesis, proteins and pathways

Human molecular genetics, 2006-10, Vol.15 (suppl-2), p.R262-R270

2006

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Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa

European journal of human genetics : EJHG, 2024-05

2024

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Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

American journal of human genetics, 2010-09, Vol.87 (3), p.418-423

2010

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Scrutinizing ciliopathies by unraveling ciliary interaction networks

Human molecular genetics, 2011-10, Vol.20 (2), p.R149-R157

2011

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

American journal of human genetics, 2017-07, Vol.101 (1), p.23-36

2017

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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

American journal of human genetics, 2016-02, Vol.98 (2), p.373-381

2016

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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

American journal of human genetics, 2016-09, Vol.99 (3), p.770-776

2016

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323

2013

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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Genetics in medicine, 2023-07, Vol.25 (7), p.100838, Article 100838

2023

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OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

American journal of human genetics, 2009-10, Vol.85 (4), p.465-481

2009

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

Human molecular genetics, 2005-12, Vol.14 (24), p.3933-3943

2005

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Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network

Human molecular genetics, 2015-06, Vol.24 (12), p.3359-3371

2015

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

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

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

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

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

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

Towards understanding CRUMBS function in retinal dystrophies

CRB1 mutation spectrum in inherited retinal dystrophies

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion

Usher syndrome: molecular links of pathogenesis, proteins and pathways

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Scrutinizing ciliopathies by unraveling ciliary interaction networks

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

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

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network

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