Targeting the photoreceptor cilium for the treatment of retinal diseases

ASK1-Mediated Phosphorylation Blocks HDAC6 Ubiquitination and Degradation to Drive the Disassembly of Photoreceptor Connecting Cilia

(2020) Jie Ran et al.   DEVELOPMENTAL CELL

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

(2019) Jasdeep S Gill et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

(2019) Maan Abdullah Albarry et al.   OPHTHALMIC GENETICS

Triple Vectors Expand AAV Transfer Capacity in the Retina

(2018) Andrea Maddalena et al.   MOLECULAR THERAPY

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration

(2018) Erin R. Burnight et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Non-syndromic retinitis pigmentosa

(2018) Sanne K. Verbakel et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque

(2018) K. Tyler McCullough et al.   HUMAN GENE THERAPY

Insights into photoreceptor ciliogenesis revealed by animal models

(2018) Wolfgang Baehr et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

(2017) Stephen Russell et al.   LANCET

CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10

(2017) Guo-Xiang Ruan et al.   MOLECULAR THERAPY

Photoreceptor Cilia and Retinal Ciliopathies

(2017) Kinga M. Bujakowska et al.   Cold Spring Harbor Perspectives in Biology

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

(2016) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

(2016) Gavin Arno et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation

(2016) Cecinio C. Ronquillo et al.   FASEB JOURNAL

Unexpected Roles for Ciliary Kinesins and Intraflagellar Transport Proteins

(2016) Niedharsan Pooranachandran et al.   GENETICS

Arf-like Protein 3 (ARL3) Regulates Protein Trafficking and Ciliogenesis in Mouse Photoreceptors

(2016) Christin Hanke-Gogokhia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa

(2016) Wen-Hsuan Wu et al.   MOLECULAR THERAPY

Molecular basis for photoreceptor outer segment architecture

(2016) Andrew F.X. Goldberg et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Ciliopathies: Does HDAC6 Represent a New Therapeutic Target?

(2016) Fan Yu et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Ciliopathies

(2016) Daniela A. Braun et al.   Cold Spring Harbor Perspectives in Biology

Unexpected Roles for Ciliary Kinesins and Intraflagellar Transport Proteins

(2016) Niedharsan Pooranachandran et al.   GENETICS

Joubert syndrome: genotyping a Northern European patient cohort

(2015) Hester Y Kroes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heterotrimeric Kinesin-2 (KIF3) Mediates Transition Zone and Axoneme Formation of Mouse Photoreceptors

(2015) Li Jiang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Photoreceptors at a glance

(2015) R. S. Molday et al.   JOURNAL OF CELL SCIENCE

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

(2015) Isabelle Perrault et al.   JOURNAL OF MEDICAL GENETICS

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

(2015) Luke A. Wiley et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

(2014) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CYLD mediates ciliogenesis in multiple organs by deubiquitinating Cep70 and inactivating HDAC6

(2014) Yunfan Yang et al.   CELL RESEARCH

Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors

(2014) P Colella et al.   GENE THERAPY

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

(2014) Kinga M. Bujakowska et al.   HUMAN MOLECULAR GENETICS

New and emerging HDAC inhibitors for cancer treatment

(2014) Alison C. West et al.   JOURNAL OF CLINICAL INVESTIGATION

Causes and consequences of inherited cone disorders

(2014) Susanne Roosing et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Histone deacetylase 6–mediated selective autophagy regulates COPD-associated cilia dysfunction

(2013) Hilaire C. Lam et al.   JOURNAL OF CLINICAL INVESTIGATION

Targeted genome engineering in human cells with the Cas9 RNA-guided endonuclease

(2013) Seung Woo Cho et al.   NATURE BIOTECHNOLOGY

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

(2013) Yanfang Fu et al.   NATURE BIOTECHNOLOGY

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

(2013) Francesco Testa et al.   OPHTHALMOLOGY

Protein sorting, targeting and trafficking in photoreceptor cells

(2013) Jillian N. Pearring et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81

(2013) S. Bhogaraju et al.   SCIENCE

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Three-Dimensional Architecture of the Rod Sensory Cilium and Its Disruption in Retinal Neurodegeneration

(2012) Jared C. Gilliam et al.   CELL

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

(2012) A. Estrada-Cuzcano et al.   HUMAN MOLECULAR GENETICS

Senior–Løken syndrome: A syndromic form of retinal dystrophy associated with nephronophthisis

(2012) C.C. Ronquillo et al.   VISION RESEARCH

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

(2011) Lijia Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos

(2011) Chengtian Zhao et al.   EMBO JOURNAL

AAV-mediated photoreceptor transduction of the pig cone-enriched retina

(2011) C Mussolino et al.   GENE THERAPY

Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

(2010) Rob W.J. Collin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1

(2010) J. E. Westfall et al.   JOURNAL OF NEUROSCIENCE

The molecular basis of human retinal and vitreoretinal diseases

(2010) Wolfgang Berger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

(2009) T. Yamashita et al.   JOURNAL OF NEUROSCIENCE

Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration

(2009) Francesca Simonelli et al.   MOLECULAR THERAPY

Effect of Genome Size on AAV Vector Packaging

(2009) Zhijian Wu et al.   MOLECULAR THERAPY

Mice Lacking Histone Deacetylase 6 Have Hyperacetylated Tubulin but Are Viable and Develop Normally

(2008) Y. Zhang et al.   MOLECULAR AND CELLULAR BIOLOGY

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH