23 Result(s)

Article

LDLR-Gene therapy for familial hypercholesterolaemia: problems, progress, and perspectives

Coronary artery diseases (CAD) inflict a heavy economical and social burden on most populations and contribute significantly to their morbidity and mortality rates. Low-density lipoprotein receptor (LDLR) asso...

Faisal A Al-Allaf, Charles Coutelle… in International Archives of Medicine (2010)

Article

Erratum to: Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

Derek G. Burke, Ahad A. Rahim… in Journal of Inherited Metabolic Disease (2013)

Article

In vivo bioimaging with tissue-specific transcription factor activated luciferase reporters

The application of transcription factor activated luciferase reporter cassettes in vitro is widespread but potential for in vivo application has not yet been realized. Bioluminescence imaging enables non-invasive...

Suzanne M. K. Buckley, Juliette M. K. M. Delhove, Dany P. Perocheau… in Scientific Reports (2015)

Article

A Broad Overview and Review of CRISPR-Cas Technology and Stem Cells

The pinnacle of four decades of research, induced pluripotent stem cells (iPSCs), and genome editing with the advent of clustered, regularly interspaced, short palindromic repeats (CRISPR) now promise to take ...

Simon N. Waddington, Riccardo Privolizzi, Rajvinder Karda… in Current Stem Cell Reports (2016)

Article

Modeling hormonal and inflammatory contributions to preterm and term labor using uterine temporal transcriptomics

Preterm birth is now recognized as the primary cause of infant mortality worldwide. Interplay between hormonal and inflammatory signaling in the uterus modulates the onset of contractions; however, the relativ...

Roberta Migale, David A. MacIntyre, Stefano Cacciatore, Yun S. Lee… in BMC Medicine (2016)

Article

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

Post-translational modifications are necessary for collagen precursor molecules (procollagens) to acquire final shape and function. However, the mechanism and contribution of collagen modifications that occur ...

Blerida Banushi, Federico Forneris, Anna Straatman-Iwanowska… in Nature Communications (2016)

Article

Longitudinal in vivo bioimaging of hepatocyte transcription factor activity following cholestatic liver injury in mice

Molecular mechanisms regulating liver repair following cholestatic injury remain largely unknown. We have combined a mouse model of acute cholestatic liver injury, partial bile duct ligation (pBDL), with a nov...

Juliette M. K. M. Delhove, Suzanne M. K. Buckley, Dany P. Perocheau… in Scientific Reports (2017)

Article

Lentiviral vectors can be used for full-length dystrophin gene therapy

Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in patient muscle fibres. Current DMD gene therapy strategies rely on the expression of internally deleted forms of dystrophin, mi...

John R. Counsell, Zeinab Asgarian, **hong Meng, Veronica Ferrer… in Scientific Reports (2017)

Article

Lentiviral vectors can be used for full-length dystrophin gene therapy

Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in patient muscle fibres. Current DMD gene therapy strategies rely on the expression of internally deleted forms of dystrophin, mi...

John R. Counsell, Zeinab Asgarian, **hong Meng, Veronica Ferrer… in Scientific Reports (2017)

Article

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lower...

Julien Baruteau, Elisabeth Jameson… in Journal of Inherited Metabolic Disease (2017)

Article

Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects

Over the last decade, pioneering liver-directed gene therapy trials for haemophilia B have achieved sustained clinical improvement after a single systemic injection of adeno-associated virus (AAV) derived vect...

Julien Baruteau, Simon N. Waddington… in Journal of Inherited Metabolic Disease (2017)

Article

Continual conscious bioluminescent imaging in freely moving somatotransgenic mice

Luciferase bioimaging in living animals is increasingly being applied in many fields of biomedical research. Rodent imaging usually involves anaesthetising the animal during data capture, however, the biologic...

Rajvinder Karda, Dany P. Perocheau, Natalie Suff, Joanne Ng… in Scientific Reports (2017)

Article

Erratum: Lentiviral vectors can be used for full-length dystrophin gene therapy

Scientific Reports 7: Article number: 44775; published online: 17 March 2017; updated: 29 August 2017. This article was published twice in error during a change in production systems. The publisher apologizes ...

John R. Counsell, Zeinab Asgarian, **hong Meng, Veronica Ferrer… in Scientific Reports (2017)

Article

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characteri...

Julien Baruteau, Dany P. Perocheau, Joanna Hanley… in Nature Communications (2018)

Article

Production of lentiviral vectors using novel, enzymatically produced, linear DNA

The manufacture of large quantities of high-quality DNA is a major bottleneck in the production of viral vectors for gene therapy. Touchlight Genetics has developed a proprietary abiological technology that ad...

Rajvinder Karda, John R. Counsell, Kinga Karbowniczek, Lisa J. Caproni… in Gene Therapy (2019)

Article

In Utero Gene Therapy (IUGT) Using GLOBE Lentiviral Vector Phenotypically Corrects the Heterozygous Humanised Mouse Model and Its Progress Can Be Monitored Using MRI Techniques

In utero gene therapy (IUGT) to the fetal hematopoietic compartment could be used to treat congenital blood disorders such as β-thalassemia. A humanised mouse model of β-thalassemia was used, in which heterozy...

Panicos Shangaris, Stavros P. Loukogeorgakis, Sindhu Subramaniam… in Scientific Reports (2019)

Article

Publisher Correction: In Utero Gene Therapy (IUGT) Using GLOBE Lentiviral Vector Phenotypically Corrects the Heterozygous Humanised Mouse Model and Its Progress Can Be Monitored Using MRI Techniques

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Panicos Shangaris, Stavros P. Loukogeorgakis, Sindhu Subramaniam… in Scientific Reports (2019)

Article

Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors

We have previously designed a library of lentiviral vectors to generate somatic-transgenic rodents to monitor signalling pathways in diseased organs using whole-body bioluminescence imaging, in conscious, free...

Rajvinder Karda, Ahad A. Rahim, Andrew M. S. Wong, Natalie Suff… in Scientific Reports (2020)

Article

Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload

Heterozygous mutations of the lysosomal enzyme glucocerebrosidase (GBA1) represent the major genetic risk for Parkinson’s disease (PD), while homozygous GBA1 mutations cause Gaucher disease, a lysosomal storage d...

Nicoletta Plotegher, Dany Perocheau, Ruggero Ferrazza… in Cell Death & Differentiation (2020)

Article

Correction: Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Nicoletta Plotegher, Dany Perocheau, Ruggero Ferrazza… in Cell Death & Differentiation (2020)