PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Nonsense suppression drug restores function in a mouse model of aniridia

2013-12-20
(Press-News.org) Contact information: Corinne Williams
press_releases@the-jci.org
Journal of Clinical Investigation
Nonsense suppression drug restores function in a mouse model of aniridia Congenital aniridia is a progressive disease that is associated with improper development of eye structures as well as abnormalities in the brain and pancreas. A variety of nonsense mutations in the PAX6 gene are linked with aniridia; however, despite understanding the genetic basis of the disease, few treatment and prevention strategies are available. In this issue of the Journal of Clinical Investigation, Cheryl Gregory-Evans and colleagues at the University of British Columbia evaluated a small molecule nonsense suppression strategy for relief of aniridia-associated defects in a mouse model of the disease. The authors developed a formulation of the nonsense suppression drug ataluren that could be given topically to postnatal aniridia mice. Administration of their ataluren-based formulation inhibited disease progression, reversed eye deformations, and restored eye function in aniridia mice. In an accompanying commentary, José-Alain Sahel and Katia Marazova of the Institut de la Vision suggest that ataluren administration should be further explored as a therapeutic option for treatment of congenital eye defects associated with nonsense mutations.

INFORMATION:

TITLE: Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

AUTHOR CONTACT: Cheryl Gregory-Evans
University of British Columbia, Vancouver, BC, CAN
Phone: 604-875-5529; Fax: 604-875-4663; E-mail: cge30@mail.ubc.ca

View this article at: http://www.jci.org/articles/view/70462?key=f3d20cd7e7397c048ea0

ACCOMPANYING COMMENTARY

TITLE: Toward postnatal reversal of ocular congenital malformations

AUTHOR CONTACT: Jose-Alain Sahel
The French National Center, Paris Cedex 12, UNK, FRA
Phone: +33608643841 (cell); Fax: +33140021499; E-mail: j-sahel@quinze-vingts.fr

View this article at: http://www.jci.org/articles/view/73560?key=e350629cb164faec9c64

END



ELSE PRESS RELEASES FROM THIS DATE:

Dysfunctional TGF-beta signaling contributes to Loeys-Dietz syndrome-associated aortic aneurysm

2013-12-20
Dysfunctional TGF-beta signaling contributes to Loeys-Dietz syndrome-associated aortic aneurysm Patients with the connective tissue disorder Loeys-Dietz syndrome (LDS) are at high risk for aortic aneurysm. LDS results in the presence of missense mutations ...

Evaluation of mangafodipir treatment for oxaliplatin-associated neuropathy

2013-12-20
Evaluation of mangafodipir treatment for oxaliplatin-associated neuropathy An unfortunate side effect of the platinum-chemotherapy drug oxaliplatin is the development of neurotoxicity, which can adversely affect a patient's quality of life; therefore, ...

New research offers hope for vaccine and therapies for deadly infections

2013-12-20
New research offers hope for vaccine and therapies for deadly infections LA BioMed researcher leads team that finds antibodies to protect against mucormycosis LOS ANGELES – (Dec. 20, 2013) – Mucormycosis ...

UBC-VCH scientists use drug to repair rare birth defect

2013-12-20
UBC-VCH scientists use drug to repair rare birth defect Success in mouse model is first instance of drug reversing a congenital deformity University of British Columbia and Vancouver Coastal Health scientists have developed a potential cure for a rare eye disease, ...

Enlisting cells' protein recycling machinery to regulate plant products

2013-12-20
Enlisting cells' protein recycling machinery to regulate plant products New molecular tools for controlling production of compounds important for flavors, human health, and biofuels UPTON, NY--Scientists at the U.S. Department of Energy's Brookhaven ...

New mechanism that permits selective capture of microRNAs in nanovesicles that shuttle between cells

2013-12-20
New mechanism that permits selective capture of microRNAs in nanovesicles that shuttle between cells The study presents the first description of a set of related nuceleotide sequences essential for the role of these small molecules in ...

More mentions in the FT linked to greater popularity of stocks

2013-12-20
More mentions in the FT linked to greater popularity of stocks A 6-year study of the Financial Times has found that the more frequently a company is mentioned in the newspaper in the morning, the greater the volume of shares traded in that company during the ...

Efforts to curb climate change require greater emphasis on livestock

2013-12-20
Efforts to curb climate change require greater emphasis on livestock CORVALLIS, Ore. – While climate change negotiators struggle to agree on ways to reduce carbon dioxide (CO2) emissions, they have paid inadequate attention to other greenhouse gases associated ...

Birth of black hole kills the radio star

2013-12-20
Birth of black hole kills the radio star Research clears telescope, disproves long-held theory Astronomers led by a Curtin University researcher have discovered a new population of exploding stars that "switch off" their radio transmissions before collapsing ...

An earthquake or a snow avalanche has its own shape

2013-12-20
An earthquake or a snow avalanche has its own shape However, it is crucial what one observes – paper fracture or the avalanching of snow. The results were just published in the Nature Communications journal. Avalanches of snow or earthquakes can be described in other ...

LAST 30 PRESS RELEASES:

Gut microbiome influences proteins that drive aging and disease

NIH funds first-of-its-kind center to study resilience and aging

Mesonephric carcinoma and mesonephric-like adenocarcinoma of the female genital tract

Rural patients in the United States still face barriers to telehealth access

Emphysema at CT lung screening increases death risk in asymptomatic adults

Brain iron on MRI predicts cognitive impairment, decline

The ISSCR partners with Nuffield Council on Bioethics to compile global horizon scan on stem cell research

Machine learning unveils COPD patient clusters and quality of life associations in China

No sign of toxic effects of inhaled anesthesia in young children

CUNY SPH expands curriculum with concentration in sexual and reproductive justice and health

High consumption of ultra-processed foods linked to systemic inflammation

City of Hope launches transformative national clinical trials model to accelerate cancer research

Inside an academic scandal: a story of fraud and betrayal

Innovative ultrasonic regeneration restores nano-phase change emulsions for low-temperature applications

Targeted snow monitoring at hotspots outperforms basin-wide surveys in predicting water supply

Decades-old barrels of industrial waste still impacting ocean floor off Los Angeles

Finalists announced for the 2025 Blavatnik National Awards for Young Scientists

Alkali waste dumped in the Pacific Ocean created alkalophilic ecosystems

Bacterial ink to restore coral reefs

AI-based satellite count of migrating wildebeest

Bee-sting inspired microneedles from Chung-Ang University could revolutionize drug delivery

Pusan National University researchers reveal how uneven ocean warming is altering propagation of the Madden-Julian oscillation

Mapping causality in neuronal activity: towards a better understanding of brain networks

New research identifies IFITM3 as key driver of immunotherapy response in small cell lung cancer

Scientists find curvy answer to harnessing “swarm intelligence”

PALOMA-2 study: Subcutaneous amivantamab every 4 weeks plus lazertinib shows high response rate in EGFR-mutated NSCLC

First 3D real-time imaging of hydrogen’s effect on stainless steel defects opens the way to a safer hydrogen economy

Circulating tumor DNA may guide immunotherapy use in limited-stage SCLC, new study shows

Novel immunotherapy strategy shows promising long-term survival in advanced NSCLC patients with inadequate response to immune checkpoint inhibitors

Surgery after EGFR TKI shows promise in prolonging progression-free survival in metastatic NSCLC

[Press-News.org] Nonsense suppression drug restores function in a mouse model of aniridia