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Mostrati risultati da 1 a 20 di 34
Titolo Data di pubblicazione Autori Tipo File Abstract
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour 2008 Citro V. + Article (author) -
In silico docking of urokinase plasminogen activator and integrins 2008 Citro, Valentina + Article (author) -
Inherited and sporadic epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor 2009 V. CitroL. Larizza + Book Part (author) -
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests 2011 Citro, Valentina + Article (author) -
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites 2013 Citro V. + Article (author) -
A thermodynamic assay to test pharmacological chaperones for Fabry disease 2014 Citro V. + Article (author) -
Heterodimerization of two pathological mutants enhances the activity of human phosphomannomutase2 2015 Citro V. + Article (author) -
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype 2015 Citro, Valentina + Article (author) -
Drug repositioning can accelerate discovery of pharmacological chaperones 2015 Citro, Valentina + Article (author) -
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease 2016 Citro, Valentina + Article (author) -
The large phenotypic spectrum of fabry disease requires graduated diagnosis and personalized therapy: A Meta-Analysis can help to differentiate missense mutations 2016 Citro V. + Article (author) -
E-Learning for Rare Diseases: An Example Using Fabry Disease 2017 Citro, Valentina + Article (author) -
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP : possible implications for the disease PMM2-CDG 2017 Citro, Valentina + Article (author) -
In vitro enzyme measurement to test pharmacological Chaperone responsiveness in Fabry and Pompe Disease 2017 Citro, Valentina + Article (author) -
D2A-Ala peptide derived from the urokinase receptor exerts anti-tumoural effects in vitro and in vivo 2018 Citro V. + Article (author) -
D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR 2018 Citro, Valentina + Article (author) -
The analysis of variants in the general population reveals that PMM2 is extremely tolerant to missense mutations and that diagnosis of PMM2-CDG can benefit from the identification of modifiers 2018 Citro V. + Article (author) -
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase 2018 Citro, Valentina + Article (author) -
Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor 2019 Citro V. + Article (author) -
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease 2020 Citro V. + Article (author) -
Mostrati risultati da 1 a 20 di 34
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