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microRNAs as biomarkers in Pompe disease. - Read More…
High-throughput screening identifies kinase inhibitors that increase dual AAV vectors transduction in vitro and in mouse retina - Read More…
Triple Vectors Expand AAV Transfer Capacity in the Retina - Read More…
Pyruvate dehydrogenase complex and lactate dehydrogenase are targets for therapy of acute liver failure - Read More…
Targeting and silencing of rhodopsin by ectopic expression of the transcription factor KLF15. - Read More…
Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia. - Read More…
Triple Vectors Expand AAV Transfer Capacity in the Retina. - Read More…
mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy - Read More…
Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth - Read More…
TFE3 regulates whole-body energy metabolism in cooperation with TFEB. - Read More…
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Menetrier-like gastropathy. - Read More…
Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin - Read More…
Downregulation of HNF-4α and defective zonation in livers expressing mutant Z α1-antitrypsin - Read More…
The impact of microRNAs on transcriptional heterogeneity and gene co-expression across single embryonic stem cells - Read More…
Transcription Factor EB Controls Metabolic Flexibility during Exercise - Read More…
Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease - Read More…
Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases - Read More…
Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling - Read More…
Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease - Read More…
Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier. - Read More…
Brain Targeting in MPS-IIIA - Read More…
A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease. - Read More…
The emerging role of lysosomes in copper homeostasis. - Read More…
Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL - Read More…
ITALIAN PRIME MINISTER MATTEO RENZI VISITS TIGEM - Read More…
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis - Read More…
Brain Disorders Due to Lysosomal Dysfunction - Read More…
Rhodopsin targeted transcriptional silencing by DNA-binding - Read More…
Aged and Diseased Neurons Get Lost in Transport - Read More…
Andrea Ballabio, winner of the 2016 Louis-Jeantet Prize for Medicine, publishes a perspective article in EMM entitled "The awesome lysosome" - Read More…
FGF signalling regulates bone growth through autophagy - Read More…
Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants. - Read More…
Cyclosporin promotes neurorestoration and cell replacement therapy in pre-clinical models of Parkinson's disease. - Read More…
A comprehensive map of CNS transduction by eight recombinant adeno-associated virus serotypes upon cerebrospinal fluid administration in pigs. - Read More…
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1 - Read More…
Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease. - Read More…
Progress toward improved therapies for inborn errors of metabolism - Read More…
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma - Read More…
Gene Therapy of Inherited Retinal Degenerations: Prospects and Challenges - Read More…
Gene Therapy for Inherited Diseases of Liver Metabolism - Read More…
Fighting Rare Diseases: The Model of the Telethon Research Institutes in Italy - Read More…
Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB - Read More…
TFEB and the CLEAR network. - Read More…
Leber Congenital Amaurosis: gene therapy improves vision in 12 patients - Read More…
Discovery of the system regulating degradation in animal cells - Read More…
Prevalence of anti-AAV8 neutralizing antibodies and ARSB cross-reactive immunologic material in MPS VI patients candidates for a gene therapy trial. - Read More…
