(Q39960161)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18635576%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa (English)

1 reference

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10 January 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18635576%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

author name string

Hugo F Mendes

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18635576%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

publication date

17 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18635576%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18635576%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

17

1 reference

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10 January 2020

issue

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18635576%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

3043-3054

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18635576%20AND%20SRC:MED&resulttype=core&format=json

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

10 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

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Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

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

21 January 2018

1 reference

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The nature of dominant mutations of rhodopsin and implications for gene therapy

21 January 2018

1 reference

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Morphological, physiological, and biochemical changes in rhodopsin knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

IRE1 signaling affects cell fate during the unfolded protein response

21 January 2018

1 reference

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Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

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Aggresomes, inclusion bodies and protein aggregation

21 January 2018

1 reference

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Adapting proteostasis for disease intervention

21 January 2018

1 reference

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Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

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Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H.

21 January 2018

1 reference

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Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate

21 January 2018

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Molecular chaperones and photoreceptor function.

21 January 2018

1 reference

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Celastrols as inducers of the heat shock response and cytoprotection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Rpe65 as a modifier gene for inherited retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

A high-throughput screening method for small-molecule pharmacologic chaperones of misfolded rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202

Rapamycin alleviates toxicity of different aggregate-prone proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN202