J. van der Spuy

发表

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.

M. Michaelides, A. Dubis, J. Bainbridge, 2015, Ophthalmology.

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6

M. Michaelides, J. Bellingham, C. Prodromou, 2017, Human molecular genetics.

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6

M. Michaelides, J. Bellingham, C. Prodromou, 2018, Human molecular genetics.

The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.

M. Cheetham, J. van der Spuy, R. Evans, 2008, Investigative ophthalmology & visual science.

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Dorothy A. Thompson, G. Holder, S. Bhattacharya, 2007, Investigative ophthalmology & visual science.

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy.

M. Cheetham, J. van der Spuy, J. Chapple, 2005, Trends in molecular medicine.

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

P. Luthert, M. Cheetham, B. J. Clark, 2002, Human molecular genetics.

Role of AIP and its homologue the blindness-associated protein AIPL1 in regulating client protein nuclear translocation.

M. Cheetham, J. van der Spuy, 2004, Biochemical Society transactions.

The Leber Congenital Amaurosis Protein AIPL1 Modulates the Nuclear Translocation of NUB1 and Suppresses Inclusion Formation by NUB1 Fragments*

M. Cheetham, J. van der Spuy, 2004, Journal of Biological Chemistry.

The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway

N. Kanuga, M. Cheetham, J. Bett, 2012, PloS one.

The chaperone function of the LCA protein AIPL1. AIPL1 chaperone function.

M. Cheetham, J. van der Spuy, 2006, Advances in experimental medicine and biology.

Treatment with extracellular HSP70/HSC70 protein can reduce polyglutamine toxicity and aggregation

T. Novoselova, M. Cheetham, J. van der Spuy, 2005, Journal of neurochemistry.

Primate retinal cones express phosphorylated tau associated with neuronal degeneration yet survive in old age

G. Jeffery, J. van der Spuy, M. Powner, 2017, Experimental eye research.

Neuronal DnaJ proteins HSJ1a and HSJ1b: a role in linking the Hsp70 chaperone machine to the ubiquitin-proteasome system?

M. Cheetham, S. Poopalasundaram, J. van der Spuy, 2004, Biochemical Society transactions.

The Role of Hsp90 in Retinal Proteostasis and Disease

J. van der Spuy, Kalliopi Ziaka, 2022, Biomolecules.

The cochaperone murine stress-inducible protein 1: overexpression, purification, and characterization.

G. Blatch, M. Cheetham, J. van der Spuy, 2001, Protein expression and purification.

Heat shock cognate protein 70 chaperone-binding site in the co-chaperone murine stress-inducible protein 1 maps to within three consecutive tetratricopeptide repeat motifs.

G. Blatch, B. Kana, J. van der Spuy, 2000, The Biochemical journal.

The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium

U. Wolfrum, C. Futter, M. Cheetham, 2015, PloS one.

The binding of the molecular chaperone Hsc70 to the prion protein PrP is modulated by pH and copper.

A. Rhie, M. Cheetham, C. Birkett, 2010, The international journal of biochemistry & cell biology.

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis

M. Michaelides, M. Cheetham, J. Bainbridge, 2022, Stem cell reports.

Focus on molecules: the aryl hydrocarbon receptor interacting protein-like 1 (AIPL1).

J. van der Spuy, 2006, Experimental eye research.

The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.

Julian R. E. Davis, D. Berney, R. Quinton, 2008, The Journal of clinical endocrinology and metabolism.

The role of HSP70 and its co-chaperones in protein misfolding, aggregation and disease.

M. Cheetham, J. van der Spuy, J. Chapple, 2015, Sub-cellular biochemistry.

Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders

A. Recchia, D. Benati, J. van der Spuy, 2022, International journal of molecular sciences.

Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy-lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.

F. Edwards, D. Salih, Marina V. Yasvoina, 2019, Human molecular genetics.

The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.

Á. Szél, P. Luthert, M. Cheetham, 2003, Investigative ophthalmology & visual science.

Unfolding retinal dystrophies: a role for molecular chaperones?

M. Cheetham, A. Hardcastle, J. van der Spuy, 2001, Trends in molecular medicine.

Congenital Amaurosis in a patient-derived iPSC-retinal organoid model Author List

P. Coffey, M. Michaelides, M. Cheetham, 2021 .

The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors.

Almudena Sacristán-Reviriego, J. van der Spuy, 2018, Advances in experimental medicine and biology.

Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis.

M. Michaelides, J. Bellingham, J. Bainbridge, 2015, Investigative ophthalmology & visual science.

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

M. Michaelides, A. Roux, C. Prodromou, 2020, Scientific Reports.

The ubiquitin-like modifier FAT10 inhibits retinal PDE6 activity and mediates its proteasomal degradation

M. Groettrup, Almudena Sacristán-Reviriego, J. van der Spuy, 2020, The Journal of Biological Chemistry.

Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects.

J. van der Spuy, P. Perdigão, 2019, Advances in experimental medicine and biology.

NUB1 modulation of GSK3β reduces tau aggregation.

D. Hanger, M. Cheetham, M. Groettrup, 2012, Human molecular genetics.

CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

P. Yu-Wai-Man, M. Cheetham, J. van der Spuy, 2021, Molecular therapy. Nucleic acids.

Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models

D. Athanasiou, M. Cheetham, J. van der Spuy, 2023, Cells.

Eupatilin improves cilia defects in human CEP290 ciliopathy models

D. Athanasiou, J. van der Spuy, K. Jovanović, 2023, bioRxiv.

Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease

Almudena Sacristán-Reviriego, J. van der Spuy, A. Leung, 2023, International journal of molecular sciences.

HSJ1 Is a Neuronal Shuttling Factor for the Sorting of Chaperone Clients to the Proteasome

M. Cheetham, J. Höhfeld, Britta Westhoff, 2005, Current Biology.

Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4

Almudena Sacristán-Reviriego, J. van der Spuy, P. Perdigão, 2024, Molecular therapy. Nucleic acids.

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

Peter M. G. Munro, T. Bek, P. Luthert, 2005, Molecular vision.

The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.

Á. Szél, P. Luthert, M. Cheetham, 2003, Investigative ophthalmology & visual science.