Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through (Q39731108)

14 September 2017

title

Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through (English)

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Susanna Wiegand

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Anke Hinney

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object named as

Anke Hinney

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Johannes Hebebrand

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object named as

Johannes Hebebrand

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author name string

Harald Brumm

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Jessica Mühlhaus

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Florian Bolze

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Susann Scherag

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Annette Grüters

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Heiko Krude

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Heike Biebermann

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publication date

7 July 2011

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volume

20

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issue

5

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page(s)

1074-1081

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Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

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cites work

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Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.

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Several Mutations in the Melanocortin-4 Receptor Gene Including a Nonsense and a Frameshift Mutation Associated with Dominantly Inherited Obesity in Humans

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Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany

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Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

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Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

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Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

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STREPTOMYCIN, SUPPRESSION, AND THE CODE

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Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin

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Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy

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Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system

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Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

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Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

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Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo

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Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

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Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

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PTC124 targets genetic disorders caused by nonsense mutations

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Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

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Lifestyle intervention in obese children with variations in the melanocortin 4 receptor gene.

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Mutations in the human proopiomelanocortin gene

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Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

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Leaky termination at premature stop codons antagonizes nonsense-mediated mRNA decay in S. cerevisiae

21 January 2018

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Discrimination between defects in elongation fidelity and termination efficiency provides mechanistic insights into translational readthrough

21 January 2018

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Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects

21 January 2018

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Molecular determinants of ligand binding to the human melanocortin-4 receptor

21 January 2018

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Inhibition of Gonadotropin-Releasing Hormone Receptor Signaling by Expression of a Splice Variant of the Human Receptor

21 January 2018

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Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

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Introducing sense into nonsense in treatments of human genetic diseases

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Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression

21 January 2018

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Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression

21 January 2018

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Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation

21 January 2018

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Readthrough of dystrophin stop codon mutations induced by aminoglycosides

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2011.202

Prevalence of Mutations and Functional Analyses of Melanocortin 4 Receptor Variants Identified among 750 Men with Juvenile-Onset Obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2011.202

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2011.202

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2011.202

A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2011.202

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2011.202

inferred from DOI database lookup

7 January 2021

based on heuristic

Inhibition of gonadotropin-releasing hormone receptor signaling by expression of a splice variant of the human receptor

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2011.202

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/OBY.2011.202

1 reference

14 September 2017

1 reference