6 Result(s)

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)

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

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

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

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)