List of works - Michael E. Cheetham

A dual role for EDEM1 in the processing of rod opsin

scientific article

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

scientific article published on 15 December 2017

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

scientific article published on 01 January 2012

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

scientific article

A simple cell based assay to measure Parkin activity ⬇️

scientific article published on December 13, 2010

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

scientific article published on 27 January 2021

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

scientific article published in December 2007

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

scientific article published in March 2018

Apolipoprotein E-∈A allele and Alzheimer's disease

scientific article published in The Lancet

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

scientific article

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

scientific article published on 21 April 2017

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

scientific article published on January 2005

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

scientific article

BiP prevents rod opsin aggregation ⬇️

scientific article published on August 1, 2012

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

scientific article published on 21 January 2017

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

article

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

scientific article published on 01 September 2010

Cell stress genes and chronic neurodegenerative disorders.

scientific article

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

scientific article published on 9 January 2018

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

scientific article

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

scientific article published on 23 November 2006

DNAJ Proteins in neurodegeneration: essential and protective factors.

scientific article published in January 2018

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

scientific article

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina

scientific journal article

Differential light-induced responses in sectorial inherited retinal degeneration.

scientific article

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

scientific article published on 25 September 2008

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

scientific article published in January 2009

Domain requirements of DnaJ-like (Hsp40) molecular chaperones in the activation of a steroid hormone receptor

scientific article published on 01 November 1999

Downstream caspases are novel targets for the antiapoptotic activity of the molecular chaperone hsp70.

scientific article published on January 2004

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

scientific article

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

scientific article published in March 2018

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

scientific article published on 17 December 2018

Expression of alternatively-spliced glutamate receptors in human hippocampus

scientific article

Focus on Molecules: Centrosomal protein 290 (CEP290)

scientific article published on 20 May 2010

Focus on molecules: nyctalopin

scientific article

Function, evolution, and structure of J-domain proteins

scientific article published on 26 November 2018

Guidelines for the nomenclature of the human heat shock proteins

scientific article

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

scientific article

HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome

scientific article

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

scientific article published on 10 April 2007

Hsp90 as a Potential Therapeutic Target in Retinal Disease

scientific article

Hsp90 inhibition protects against inherited retinal degeneration

scientific article published on 02 December 2013

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

scientific article published on 12 April 2016

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

scientific article

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

scientific article published in June 2005

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

scientific article

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

scientific article

Inhibition of hsc70-catalysed clathrin uncoating by HSJ1 proteins.

scientific article published on October 1996

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

scientific article published on 01 August 2000

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

scientific journal article

Isolation of cDNAs coding for epitopes shared by microtubule-associated proteins and neurofibrillary tangle in Alzheimer's disease

scientific article

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

scientific article published on 5 May 2011

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

scientific article published in April 2015

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

scientific article

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

scientific article

Minimising the risk of prion transmission by contact tonometry

scientific article published on November 2003

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

scientific article published on 2 October 2017

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

scientific article published in May 2004

Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis

scientific journal article

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

scientific article published on January 1, 2011

Molecular chaperones and neuronal proteostasis

scientific article published on 12 March 2015

Molecular chaperones and photoreceptor function.

scientific article published on 29 March 2008

Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin

scientific article published on 22 September 2011

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

scientific article published on 11 July 2013

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

scientific article

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

scientific article

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Mutations in the CACNA1F and NYX genes in British CSNBX families

scientific article (publication date: February 2003)

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

scientific article published on 6 March 2017

NUB1 modulation of GSK3β reduces tau aggregation

scientific article published on 10 September 2012

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

scientific article published in August 2004

Not all J domains are created equal: implications for the specificity of Hsp40-Hsp70 interactions

scientific article

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy

scientific article published on 01 January 2005

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

scientific article published in December 2007

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

scientific article

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

scientific article published on June 2003

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

scientific article published on February 2004

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

scientific article published on 20 April 2020

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

scientific article

Pharmacological manipulation of rhodopsin retinitis pigmentosa.

scientific article published on January 2010

Protective effect of post-ischaemic viral delivery of heat shock proteins in vivo

scientific article published on 10 September 2008

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

scientific article published on 28 December 2016

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

scientific article published on 5 May 2017

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

scientific article published on 9 June 2016

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

scientific article published on 07 January 2017

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

scientific article

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

scientific article published on 23 July 2018

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

scientific article published on 05 October 2020

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

scientific article published on March 1, 1998

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

scientific article published on 6 March 2012

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

scientific article published on 22 June 2020

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

scientific article

Targeting amyloid-beta in glaucoma treatment.

scientific article

Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa

scientific article published on January 2016

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

scientific article published on May 23, 2003

The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium

scientific article

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

scientific article

The Role of the X-linked Retinitis Pigmentosa Protein RP2 in Vesicle Traffic and Cilia Function ⬇️

scientific article published on January 1, 2012

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

scientific article

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

scientific article

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

scientific article published on 29 April 2010

The cell stress machinery and retinal degeneration ⬇️

scientific article published on May 15, 2013

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on March 2016

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

scientific article

The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway

scientific article

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.

scientific article published on 27 December 2007

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

scientific article published on 14 October 2017

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

scientific article

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

scientific article

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

scientific article published on January 2015

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

scientific article published on 27 September 2017

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

scientific article

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

scientific article

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

scientific article published on 30 June 2005

Unfolding retinal dystrophies: a role for molecular chaperones?

scientific article

Unpicking the UPR ⬇️

scientific article published on 01 October 2012

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

scientific article published on October 2016

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

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

scientific article

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

scientific article

List of works by Michael E. Cheetham

A dual role for EDEM1 in the processing of rod opsin

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

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

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

A simple cell based assay to measure Parkin activity ⬇️

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

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

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

Apolipoprotein E-∈A allele and Alzheimer's disease

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

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

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

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

BiP prevents rod opsin aggregation ⬇️

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

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

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

Cell stress genes and chronic neurodegenerative disorders.

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

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

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

DNAJ Proteins in neurodegeneration: essential and protective factors.

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

Delineating the expanding phenotype associated with SCAPER gene mutation

Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina

Differential light-induced responses in sectorial inherited retinal degeneration.

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

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

Domain requirements of DnaJ-like (Hsp40) molecular chaperones in the activation of a steroid hormone receptor

Downstream caspases are novel targets for the antiapoptotic activity of the molecular chaperone hsp70.

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

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

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

Expression of alternatively-spliced glutamate receptors in human hippocampus

Focus on Molecules: Centrosomal protein 290 (CEP290)

Focus on molecules: nyctalopin

Function, evolution, and structure of J-domain proteins

Guidelines for the nomenclature of the human heat shock proteins

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

HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome

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

Hsp90 as a Potential Therapeutic Target in Retinal Disease

Hsp90 inhibition protects against inherited retinal degeneration

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

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

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

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

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

Inhibition of hsc70-catalysed clathrin uncoating by HSJ1 proteins.

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

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

Isolation of cDNAs coding for epitopes shared by microtubule-associated proteins and neurofibrillary tangle in Alzheimer's disease

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

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

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

Minimising the risk of prion transmission by contact tonometry

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

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

Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis

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

Molecular chaperones and neuronal proteostasis

Molecular chaperones and photoreceptor function.

Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin

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

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

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

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Mutations in the CACNA1F and NYX genes in British CSNBX families

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

NUB1 modulation of GSK3β reduces tau aggregation

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

Not all J domains are created equal: implications for the specificity of Hsp40-Hsp70 interactions

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy

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

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

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

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

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