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Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

High-throughput screening identifies kinase inhibitors that increase dual AAV vectors transduction in vitro and in mouse retina

Pyruvate dehydrogenase complex and lactate dehydrogenase are targets for therapy of acute liver failure

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy.

The impact of microRNAs on transcriptional heterogeneity and gene co-expression across single embryonic stem cells

Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases

Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease

Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier.

A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease.

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis

Andrea Ballabio, winner of the 2016 Louis-Jeantet Prize for Medicine, publishes a perspective article in EMM entitled "The awesome lysosome"

Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.

Cyclosporin promotes neurorestoration and cell replacement therapy in pre-clinical models of Parkinson's disease.
