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Publications by Silvia Stringara

Caveolin-3 T78M and T78K Missense Mutations Lead to Different Phenotypes in Vivo and in Vitro

Laboratory Investigation
Forensic MedicinePathologyCell BiologyMolecular Biology
2008English

Pharmacological Rescue of the Dystrophin-Glycoprotein Complex in Duchenne and Becker Skeletal Muscle Explants by Proteasome Inhibitor Treatment

American Journal of Physiology - Cell Physiology
PhysiologyCell Biology
2006English

Related publications

Protein Stability and in Vivo Concentration of Missense Mutations in Phenylalanine Hydroxylase

Proteins: Structure, Function and Genetics
BiochemistryStructural BiologyMolecular Biology
2011English

Missense Mutations in Dystrophin That Trigger Muscular Dystrophy Decrease Protein Stability and Lead to Cross- Aggregates

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2010English

Comparing in Vitro and in Vivo Virulence Phenotypes of Burkholderia Pseudomallei Type G Strains

PLoS ONE
Multidisciplinary
2017English

Missense Mutations in DYT-TOR1A Dystonia

Neurology: Genetics
NeurologyGenetics
2019English

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

American Journal of Human Genetics
Genetics
2000English

Mutations in CUL7, OBSL1 and CCDC8 in 3-M Syndrome Lead to Disordered Growth Factor Signalling

Journal of Molecular Endocrinology
EndocrinologyMolecular Biology
2012English

Different Amino Acid Substitutions at the Same Position in Rhodopsin Lead to Distinct Phenotypes

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2006English

NS4/5 Mutations Enhance Flavivirus Bamaga Virus Infectivity and Pathogenicity in Vitro and in Vivo

PLoS Neglected Tropical Diseases
PharmacologyPublic HealthEnvironmentalToxicologyInfectious DiseasesPharmaceuticsOccupational Health
2020English

Dominant Missense Mutations in a Novel Yeast Protein Related to Mammalian Phosphatidylinositol 3-Kinase and VPS34 Abrogate Rapamycin Cytotoxicity.

Molecular and Cellular Biology
Cell BiologyMolecular Biology
1993English

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