M. Cheetham

发表

Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration

Peter M. G. Munro, K. Palczewski, D. Athanasiou, 2016, Human molecular genetics.

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

G. Holder, G. Liew, M. Michaelides, 2014, Human mutation.

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

A. J. Roman, Ian C. Han, A. Cideciyan, 2018, Nature Medicine.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

T. Webb, M. Gorin, M. Michaelides, 2012, Human molecular genetics.

Guidelines for the nomenclature of the human heat shock proteins

Bin Chen, Elspeth A. Bruford, Harm H. Kampinga, 2008, Cell Stress and Chaperones.

Guidelines for the use and interpretation of assays formonitoring autophagy (3rd edition)

Sangeeta Khare, Xin Qi, Ying Wang, 2016 .

Modulation of Sub-RPE deposits in vitro: a potential model for age-related macular degeneration.

P. Luthert, J. Greenwood, M. Cheetham, 2004, Investigative ophthalmology & visual science.

Function, evolution, and structure of J-domain proteins

Jason C. Young, P. Rios, A. Barducci, 2018, Cell Stress and Chaperones.

Hsp90 inhibition protects against inherited retinal degeneration

P. Garriga, C. Gias, P. Coffey, 2013, Human molecular genetics.

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

A. J. Roman, Ian C. Han, A. Cideciyan, 2022, Nature Medicine.

The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

N. Kanuga, M. Cheetham, M. Bailly, 2010, Human molecular genetics.

Inhibition of VCP preserves retinal structure and function in autosomal dominant retinal degeneration

B. Arango-Gonzalez, S. Bolz, M. Ueffing, 2020, bioRxiv.

PNAS201903125 1..10

S. Letteboer, R. Roepman, U. Wolfrum, 2020 .

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

S. Letteboer, R. Roepman, U. Wolfrum, 2020, Proceedings of the National Academy of Sciences.

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.

A dual role for EDEM1 in the processing of rod opsin

P. Garriga, M. Aguilà, N. Kanuga, 2009, Journal of Cell 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.

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

K. Willison, P. Adamson, M. Cheetham, 2003, The Biochemical journal.

Looking at protein misfolding neurodegenerative disease through retinitis pigmentosa

M. Cheetham, J. Chapple, 2003 .

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

C. Shaw, Jack W Miller, C. Vance, 2016, Brain : a journal of neurology.

The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control

D. Athanasiou, M. Aguilà, D. Bevilacqua, 2014, Human molecular genetics.

Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain

M. Cheetham, L. Pinna, C. Franchin, 2016, Human molecular genetics.

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.

R. Wait, T. Novoselova, M. Cheetham, 2012, Human molecular genetics.

The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function.

M. Cheetham, A. Hardcastle, N. Schwarz, 2012, Advances in experimental medicine and biology.

Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.

M. Cheetham, A. Hardcastle, R. Evans, 2006, Experimental eye research.

Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa.

M. Cheetham, A. Hardcastle, J. Chapple, 2005, Methods in enzymology.

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

Arunashree Bhamidipati, K. Willison, P. Luthert, 2002, Human molecular genetics.

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

K. Willison, M. Cheetham, A. Hardcastle, 2000, Human molecular genetics.

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

K. Willison, M. Cheetham, A. Hardcastle, 2002, Investigative ophthalmology & visual science.

Calnexin is not essential for mammalian rod opsin biogenesis

M. Cheetham, M. Kosmaoglou, 2008, Molecular vision.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Alessia Fiorentino, Nikolas Pontikos, Michel Michaelides, 2016, JAMA ophthalmology.

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.

Oxidative stress affects the junctional integrity of retinal pigment epithelial cells.

P. Luthert, J. Greenwood, N. Kanuga, 2004, Investigative ophthalmology & visual science.

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.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

S. Tuft, Nikolas Pontikos, S. Kmoch, 2018, American journal of human genetics.

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

D. Sharon, U. Wolfrum, J. Sosna, 2013, American journal of human genetics.

Differential Expression of Two Distinct Functional Isoforms of Melanopsin (Opn4) in the Mammalian Retina

S. Halford, S. Peirson, R. Foster, 2009, The Journal of Neuroscience.

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

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

Identification and characterization of a human mitochondrial homologue of the bacterial co-chaperone GrpE.

G. Blatch, M. Cheetham, J. Chapple, 2001, Gene.

Not all J domains are created equal: Implications for the specificity of Hsp40–Hsp70 interactions

G. Blatch, M. Cheetham, R. Zimmermann, 2005, Protein science : a publication of the Protein Society.

Human homologues of the bacterial heat-shock protein DnaJ are preferentially expressed in neurons.

M. Cheetham, J. Brion, B. Anderton, 1992, The Biochemical journal.

Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant

P. Robinson, M. Cheetham, S. Novoselov, 2010, Human molecular genetics.

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

C. Thompson, L. da Cruz, P. Coffey, 2017, Human molecular genetics.

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.

Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa.

M. Cheetham, H. F. Mendes, 2008, Human molecular genetics.

NUB1 modulation of GSK3 beta reduces tau aggregation

D. Hanger, M. Cheetham, M. Groettrup, 2012 .

Targeting amyloid-beta in glaucoma treatment.

A. Sillito, T. Salt, N. Wood, 2007, Proceedings of the National Academy of Sciences of the United States of America.

Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2.

M. Gaasenbeek, R. Banerjee, D. Hunt, 2005, Gene.

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

L. Metherell, M. Cheetham, A. Huebner, 2005, Trends in Endocrinology & Metabolism.

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

C. Thompson, L. da Cruz, P. Coffey, 2017, Human molecular genetics.

Missense variants in the X‐linked gene PRPS1 cause retinal degeneration in females

V. Plagnol, Nikolas Pontikos, G. Arno, 2018, Human mutation.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Mark R. Marten, Erinna F. Lee, Dana L. Miller, 2021, Autophagy.

Nuclear translocation of the Hsp70/Hsp90 organizing protein mSTI1 is regulated by cell cycle kinases

G. Blatch, M. Cheetham, M. Balda, 2004, Journal of Cell Science.

Minimising the risk of prion transmission by contact tonometry

P. Luthert, M. Cheetham, R. Buckley, 2003, The British journal of ophthalmology.

Molecular Chaperone Mediated Late-Stage Neuroprotection in the SOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis

B. Kalmar, L. Greensmith, N. Kanuga, 2013, PloS one.

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

S. Halford, F. Raymond, K. Carss, 2018, Molecular vision.

Hsp90 as a Potential Therapeutic Target in Retinal Disease.

M. Aguilà, M. Cheetham, M. Aguila, 2016, Advances in experimental medicine and biology.

Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1

M. Votruba, C. Futter, M. Cheetham, 2019, Proceedings of the National Academy of Sciences.

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction

P. Yu-Wai-Man, M. Cheetham, J. Harvey, 2022, European Journal of Human Genetics.

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family

V. Plagnol, Nikolas Pontikos, M. Michaelides, 2017, Eye.

Cell stress genes and chronic neurodegenerative disorders

M. Cheetham, 1995, Neuropathology and applied neurobiology.

The Chaperone Environment at the Cytoplasmic Face of the Endoplasmic Reticulum Can Modulate Rhodopsin Processing and Inclusion Formation*

M. Cheetham, J. Chapple, 2003, Journal of Biological Chemistry.

Mutations in the CACNA1F and NYX genes in British CSNBX families

A. Meindl, A. Bird, A. Webster, 2003, Human mutation.

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Karen M. Oprych, C. Rivolta, H. Scholl, 2022, Human molecular genetics.

Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells

P. Yu-Wai-Man, M. Cheetham, J. Chapple, 2022, Human molecular genetics.

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

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

Eye on a Dish Models to Evaluate Splicing Modulation.

M. Cheetham, Rosellina Guarascio, K. Hau, 2022, Methods in molecular biology.

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

M. Cheetham, A. Hardcastle, N. Schwarz, 2020, Stem cell reports.

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 melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse y1 cell line.

M. Elphick, T. Webb, M. Cheetham, 2008, Endocrinology.

Abstracts of the 8th International Meeting

A. Rademaker, R. Eddy, T. Shows, 1999, Cytogenetic and Genome Research.

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins

M. Cheetham, A. Hardcastle, N. Schwarz, 2012, Vision Research.

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.

Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10)

A. J. Roman, Ian C. Han, A. Cideciyan, 2020 .

Molecular Mechanisms of Disease for Mutations at Gly-90 in Rhodopsin*

P. Garriga, M. Aguilà, M. Cheetham, 2011, The Journal of Biological Chemistry.

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

Nikolas Pontikos, M. Michaelides, A. Moore, 2018, Eye.

Correlative light and immuno-electron microscopy of retinal tissue cryostat sections

C. Futter, M. Cheetham, T. Burgoyne, 2018, PloS one.

Hsp40 molecules that target to the ubiquitin-proteasome system decrease inclusion formation in models of polyglutamine disease.

J. Uney, M. Cheetham, J. Gallo, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

A. Need, J. Clayton-Smith, I. MacDonald, 2022, Nature Communications.

Pharmacological manipulation of rhodopsin retinitis pigmentosa.

M. Cheetham, H. F. Mendes, Raffaella Zaccarini, 2010, Advances in experimental medicine and biology.

The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa

P. Adamson, D. Athanasiou, M. Aguilà, 2017, Human molecular genetics.

Downstream caspases are novel targets for the antiapoptotic activity of the molecular chaperone Hsp70

M. Cheetham, I. Guzhova, B. Margulis, 2004, Cell stress & chaperones.

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.

Homocysteine-induced endoplasmic reticulum protein (herp) is up-regulated in parkinsonian substantia nigra and present in the core of Lewy bodies.

L. Moran, M. Graeber, G. Michael, 2009, Clinical neuropathology.

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients

K. Willison, A. Webster, M. Cheetham, 2001, Journal of medical genetics.

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

S. Tuft, P. Adamson, P. Hysi, 2018, American journal of human genetics.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

S. Tuft, J. Daniels, V. Plagnol, 2015, American journal of human genetics.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American Journal of Human Genetics.

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

S. Tuft, S. Halford, S. Bhattacharya, 2002, Investigative ophthalmology & visual science.

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

S. Tuft, S. Bhattacharya, M. Cheetham, 2005, American journal of ophthalmology.

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

S. Tuft, E. Borasio, F. Alkuraya, 2015, Investigative ophthalmology & visual science.

Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.

T. Webb, M. Cheetham, A. Clark, 2009, Endocrinology.

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.

Regulation of 70-kDa heat-shock-protein ATPase activity and substrate binding by human DnaJ-like proteins, HSJ1a and HSJ1b.

M. Cheetham, B. Anderton, A. Jackson, 1994, European journal of biochemistry.

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

F. Rüschendorf, C. Becker, P. Nürnberg, 2005, Nature Genetics.

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

M. Elphick, T. Webb, L. Metherell, 2009, Proceedings of the National Academy of Sciences.

Molecular chaperones and neuronal proteostasis.

M. Cheetham, Heather L. Smith, Wenwen Li, 2015, Seminars in cell & developmental biology.

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy

D. Athanasiou, M. Aguilà, J. Bellingham, 2017, Progress in Retinal and Eye Research.

A look into retinal organoids: methods, analytical techniques, and applications

R. Roepman, M. Cheetham, R. Collin, 2021, Cellular and Molecular Life Sciences.

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

L. da Cruz, P. Coffey, A. Webster, 2017, Scientific Reports.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

Cytosolic and ER J-domains of mammalian and parasitic origin can functionally interact with DnaK

G. Blatch, M. Cheetham, R. Zimmermann, 2007, The international journal of biochemistry & cell biology.

Domain Requirements of DnaJ-like (Hsp40) Molecular Chaperones in the Activation of a Steroid Hormone Receptor*

M. Cheetham, M. Melville, A. Caplan, 1999, The Journal of Biological Chemistry.

The cell stress machinery and retinal degeneration

D. Athanasiou, M. Aguilà, D. Bevilacqua, 2013, FEBS letters.

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

Kalyan Dulla, Anthony A. Vugler, Michael E. Cheetham, 2018, Molecular therapy. Nucleic acids.

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

Peter M. G. Munro, L. da Cruz, P. Coffey, 2016, Cell stem cell.

The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa

B. Kalmar, L. Greensmith, Peter M. G. Munro, 2014, Cell Death and Disease.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

Induced Pluripotent Stem Cells for Inherited Optic Neuropathies—Disease Modeling and Therapeutic Development

P. Yu-Wai-Man, M. Cheetham, J. Harvey, 2021, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Modelling and rescue of RP2 Retinitis Pigmentosa using iPSC Derived Retinal Organoids

M. Cheetham, A. Hardcastle, G. Farrar, 2020, bioRxiv.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

A. Webster, M. Cheetham, D. Bamiou, 2003, Journal of medical genetics.

Molecular chaperones and photoreceptor function

M. Cheetham, J. Bett, N. Schwarz, 2008, Progress in Retinal and Eye Research.

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

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

Suppression of protein aggregation by chaperone modification of high molecular weight complexes

G. Bates, M. Cheetham, J. Bett, 2012, Brain : a journal of neurology.

Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.

E. Hirsch, M. Guillermier, S. Humbert, 2006, The Journal of clinical investigation.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

T. Strom, J. Veltman, R. Roepman, 2007, Nature Genetics.

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

G. Holder, V. Plagnol, G. Arno, 2015, Investigative ophthalmology & visual science.

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Dorothy A. Thompson, R. MacLaren, M. Michaelides, 2012, PloS one.

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

A. Stockman, G. Holder, M. Michaelides, 2005, Investigative ophthalmology & visual science.

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

F. Cremers, D. Piccolo, E. Bloch, 2020, Molecular therapy. Nucleic acids.

Focus on molecules: centrosomal protein 290 (CEP290).

A. Moore, M. Cheetham, W. L. Davies, 2011, Experimental eye research.

Structure, function and evolution of DnaJ: conservation and adaptation of chaperone function.

M. Cheetham, A. Caplan, M E Cheetham, 1998, Cell stress & chaperones.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

Mutation of ARHGEF 18 causes adult-onset retinal degeneration and underscores a key role of apicobasal polarity proteins in the maintenance of human photoreceptors

G. Holder, V. Plagnol, F. Raymond, 2022 .

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

D. Piccolo, A. Webster, M. Cheetham, 2023, Molecular therapy. Nucleic acids.

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

T. Webb, G. Michael, G. Blatch, 2009, Human molecular genetics.

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.

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

Amna Z. Shah, A. Swaroop, U. Wolfrum, 2011, Human molecular genetics.

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Caterina Ripamonti, Naheed Kanuga, Michel Michaelides, 2010, American journal of human genetics.

Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.

A. Webster, S. Peirson, M. Cheetham, 2007, Investigative ophthalmology & visual science.

The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage.

G. Pfeifer, M. Cheetham, J. Yoon, 2006, Experimental cell research.

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.

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Leo Goodstadt, Amna Z. Shah, Chris P Ponting, 2008, Nature Genetics.

Unfolding retinal dystrophies: a role for molecular chaperones?

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

Hsp40 Molecules That Target to the Ubiquitin-proteasome System Decrease Inclusion Formation in Models of Polyglutamine Disease.

J. Uney, M. Cheetham, J. Gallo, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking

Peter M. G. Munro, Yumei Li, Rui Chen, 2017, Human molecular genetics.

Targeting amyloid-β in glaucoma treatment

A. Sillito, T. Salt, N. Wood, 2007, Proceedings of the National Academy of Sciences.

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).

A. Stockman, C. Ripamonti, G. Holder, 2012, Advances in experimental medicine and biology.

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

A. Need, M. Kayikci, D. Smedley, 2020, Genetics in Medicine.

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Rachel L. Taylor, S. Halford, V. Plagnol, 2019, Ophthalmology.

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

U. Wolfrum, K. Nagel-Wolfrum, L. da Cruz, 2014, Human molecular genetics.

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene

F. Fitzke, A. Webster, M. Cheetham, 2004, British Journal of Ophthalmology.

In vitro studies show that Hsp70 can be released by glia and that exogenous Hsp70 can enhance neuronal stress tolerance

M. Cheetham, M. Tytell, I. Guzhova, 2001, Brain Research.

Late stage treatment with arimoclomol delays disease progression and prevents protein aggregation in the SOD1G93A mouse model of ALS

B. Kalmar, L. Greensmith, M. Cheetham, 2008, Journal of neurochemistry.

Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration.

A. Lennon, A. Wright, X. Shu, 2011, Investigative ophthalmology & visual science.

DNAJ Proteins in neurodegeneration: essential and protective factors

M. Cheetham, D. A. Parfitt, David A. Parfitt, 2018, Philosophical Transactions of the Royal Society B: Biological Sciences.

The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation.

Peter M. G. Munro, P. Luthert, M. Cheetham, 2002, Journal of cell science.

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

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

The Role of Chaperones and Co-Chaperones in Retinal Degenerative Diseases

T. Novoselova, M. Cheetham, M. Kosmaoglou, 2008 .

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.

U. Wolfrum, K. Nagel-Wolfrum, M. Cheetham, 2010, Human molecular genetics.

NUB1 modulation of GSK3β reduces tau aggregation.

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

NUB 1 modulation of GSK 3 b reduces tau aggregation

D. Hanger, M. Cheetham, M. Groettrup, 2012 .

Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

Sara W. Bird, Erinna F. Lee, Michael D. Kim, 2016 .

Identification and Correct ion of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups Graphical

Peter R. T. Munro, P. Coffey, A. Moore, 2016 .

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

A. J. Roman, Ian C. Han, A. Cideciyan, 2018, Nature Medicine.

DnaJB6 is present in the core of Lewy bodies and is highly up‐regulated in parkinsonian astrocytes

L. Moran, M. Graeber, P. Durrenberger, 2009, Journal of neuroscience research.

Delineating the expanding phenotype associated with SCAPER gene mutation

Rui Chen, F. Raymond, K. Carss, 2019, American journal of medical genetics. Part A.

Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model

M. Cheetham, E. Surace, A. Auricchio, 2021, American journal of human 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.

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

L. da Cruz, P. Coffey, A. Webster, 2017, Scientific Reports.

Differential Light-induced Responses in Sectorial Inherited Retinal Degeneration*

P. Garriga, A. Webster, A. Moore, 2014, The Journal of Biological Chemistry.

Sectorial Inherited Retinal Degeneration Differential Light-induced Responses in Molecular Bases of Disease :

P. Garriga, A. Webster, A. Moore, 2014 .

RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

O. Mahroo, Nikolas Pontikos, M. Michaelides, 2022, Ophthalmology.

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.

P. Coffey, M. Cheetham, A. Hardcastle, 2016, Biochemical Society transactions.

Investigation of the changes in neuronal distribution and phosphorylation state of MAP1X during development.

M. Cheetham, R. Calvert, L. Harrison, 1993, Developmental neuroscience.

Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models

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

Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa.

M. Cheetham, D. A. Parfitt, David A. Parfitt, 2016, Advances in experimental medicine and biology.

Focus on molecules: nyctalopin.

M. Cheetham, A. Hardcastle, S. Poopalasundaram, 2005, Experimental eye research.

Inhibition of hsc70-catalysed clathrin uncoating by HSJ1 proteins.

M. Cheetham, B. Anderton, A. Jackson, 1996, The Biochemical journal.

Deciphering novel TCF4-driven molecular origins and mechanisms underlying a common triplet repeat expansion-mediated disease

S. Tuft, Nikolas Pontikos, M. Cheetham, 2023, bioRxiv.

BiP prevents rod opsin aggregation

D. Athanasiou, N. Kanuga, M. Cheetham, 2012, Molecular biology of the cell.

Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA4

D. Piccolo, A. Webster, M. Cheetham, 2022, bioRxiv.

Analysis of the levels of conservation of the J domain among the various types of DnaJ-like proteins

G. Blatch, M. Cheetham, M E Cheetham, 2000, Cell stress & chaperones.

Expression of alternatively-spliced glutamate receptors in human hippocampus.

R. Kerwin, M. Cheetham, D. McLaughlin, 1993, European journal of pharmacology.

Interaction of the human DnaJ homologue, HSJ1b with the 90 kDa heat shock protein, Hsp90.

P. Csermely, C. Sőti, Y. Miyata, 2000, Life sciences.

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

C. Thompson, L. da Cruz, P. Coffey, 2017, Human molecular genetics.

AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity

D. Athanasiou, J. Bellingham, R. Ali, 2020, Human molecular genetics.

1 AAV-mediated ERdj 5 overexpression protects against P 23 H rhodopsin toxicity

D. Athanasiou, J. Bellingham, R. Ali, 2020 .

Distinct MRAP domains are required for MC2R interaction and promotion of receptor trafficking

T. Webb, M. Cheetham, A. Clark, 2008 .

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

E. Zackai, E. Bermejo, B. Weschke, 2003, Journal of medical genetics.

The role of Musashi-1 in CEP290 c.2991+1655A>G cryptic exon splicing in Leber Congenital Amaurosis

M. Cheetham, A. Hardcastle, J. C. Gardner, 2021 .

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract

Nikolas Pontikos, M. Michaelides, M. Cheetham, 2018, Eye.

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract

V. Plagnol, Andreas Massouras, Nikolas Pontikos, 2017, Ophthalmic genetics.

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.

U. Wolfrum, K. Nagel-Wolfrum, M. Cheetham, 2010, Human molecular genetics.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American journal of human genetics.

Function, evolution, and structure of J-domain proteins

Jason C. Young, Nadinath B. Nillegoda, P. Rios, 2018, Cell Stress and Chaperones.

QR-110 Treatment for Leber’s Congenital Amaurosis Type 10: Restoration of CEP290 mRNA Levels and Ciliation in LCA10 iPSC-Derived Optic Cups

P. Adamson, M. Cheetham, Patricia Biasutto, 2017 .

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.

Progress in Retinal and Eye Research

M. Cheetham, N. Schwarz, John S. Bett, 2008 .

Chapter 22: Hsp90 as a potential therapeutic target in retinal disease

M. Cheetham, Mònica Aguilà, 2016 .

Chapter 64: Targeting the proteostasis network in rhodopsin retinitis pigmentosa

M. Cheetham, David A. Parfitt, 2016 .

COMMENTARY: Chaperoning against neuronal vulnerability (Commentary on Zijlstra et al.)

M. Cheetham, 2010, The European journal of neuroscience.

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

S. Tuft, Nikolas Pontikos, M. Cheetham, 2024, bioRxiv.