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International Journal of Molecular Sciences
|
August 29, 2019
β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG
Maria Monticelli, Ludovica Liguori, Mariateresa Allocca, et al.
European Journal of Medical Genetics
|
April 19, 2021
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19
Maria Monticelli, Bruno Hay Mele, Giuseppina Andreotti, et al.
Orphanet Journal of Rare Diseases
|
December 9, 2010
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
Giuseppina Andreotti, Mario R Guarracino, Marco Cammisa, et al.
Molecules (Basel, Switzerland)
|
June 27, 2025
<i>In Silico</i> Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1
Bruno Hay Mele, Jessica Bovenzi, Giuseppina Andreotti, et al.
Genes
|
March 28, 2024
Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat
Bruno Hay Mele, Federica Rossetti, Maria Vittoria Cubellis, et al.
Orphanet Journal of Rare Diseases
|
August 29, 2023
Congenital disorders of glycosylation: narration of a story through its patents
Maria Monticelli, Tania D'Onofrio, Jaak Jaeken, et al.
Plos One
|
December 21, 2017
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
Valentina Citro, Chiara Cimmaruta, Ludovica Liguori, et al.
The Journal of Biological Chemistry
|
November 17, 2010
Converting the highly amyloidogenic human calcitonin into a powerful fibril inhibitor by three-dimensional structure homology with a non-amyloidogenic analogue
Giuseppina Andreotti, Rosa Maria Vitale, Carmit Avidan-Shpalter, et al.
BMC Bioinformatics
|
December 1, 2018
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, et al.
International Journal of Molecular Sciences
|
June 26, 2025
Bioinformatics-Driven Multi-Factorial Insight into α-Galactosidase Mutations
Bruno Hay Mele, Federica Rossetti, Giuseppina Andreotti, et al.
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Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
International Journal of Molecular Sciences
|
August 29, 2019
β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG
Maria Monticelli, Ludovica Liguori, Mariateresa Allocca, et al.
European Journal of Medical Genetics
|
April 19, 2021
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19
Maria Monticelli, Bruno Hay Mele, Giuseppina Andreotti, et al.
Orphanet Journal of Rare Diseases
|
December 9, 2010
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
Giuseppina Andreotti, Mario R Guarracino, Marco Cammisa, et al.
Molecules (Basel, Switzerland)
|
June 27, 2025
<i>In Silico</i> Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1
Bruno Hay Mele, Jessica Bovenzi, Giuseppina Andreotti, et al.
Genes
|
March 28, 2024
Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat
Bruno Hay Mele, Federica Rossetti, Maria Vittoria Cubellis, et al.
Orphanet Journal of Rare Diseases
|
August 29, 2023
Congenital disorders of glycosylation: narration of a story through its patents
Maria Monticelli, Tania D'Onofrio, Jaak Jaeken, et al.
Plos One
|
December 21, 2017
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
Valentina Citro, Chiara Cimmaruta, Ludovica Liguori, et al.
The Journal of Biological Chemistry
|
November 17, 2010
Converting the highly amyloidogenic human calcitonin into a powerful fibril inhibitor by three-dimensional structure homology with a non-amyloidogenic analogue
Giuseppina Andreotti, Rosa Maria Vitale, Carmit Avidan-Shpalter, et al.
BMC Bioinformatics
|
December 1, 2018
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, et al.
International Journal of Molecular Sciences
|
June 26, 2025
Bioinformatics-Driven Multi-Factorial Insight into α-Galactosidase Mutations
Bruno Hay Mele, Federica Rossetti, Giuseppina Andreotti, et al.
Page
of 6