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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

International journal of molecular sciences, 2018-07, Vol.19 (8), p.2218

2018

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Restoring Tissue Homeostasis at Metastatic Sites: A Focus on Extracellular Vesicles in Bone Metastasis

Frontiers in oncology, 2021-03, Vol.11, p.644109-644109

2021

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A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG

PloS one, 2017-12, Vol.12 (12), p.e0189629-e0189629

2017

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Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

PloS one, 2015-10, Vol.10 (10), p.e0139882-e0139882

2015

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Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase

BMC bioinformatics, 2018-11, Vol.19 (Suppl 15), p.433-433, Article 433

2018

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The Potential of JAG Ligands as Therapeutic Targets and Predictive Biomarkers in Multiple Myeloma

International journal of molecular sciences, 2023-09, Vol.24 (19), p.14558

2023

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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

PloS one, 2016-10, Vol.11 (10), p.e0165463-e0165463

2016

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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

Human molecular genetics, 2013-02, Vol.22 (3), p.544-557

2013

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations

International journal of molecular sciences, 2016-12, Vol.17 (12), p.2010-2010

2016

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E-Learning for Rare Diseases: An Example Using Fabry Disease

International journal of molecular sciences, 2017-09, Vol.18 (10), p.2049

2017

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A thermodynamic assay to test pharmacological chaperones for Fabry disease

Biochimica et biophysica acta, 2014-03, Vol.1840 (3), p.1214-1224

2014

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Jagged Ligands Enhance the Pro-Angiogenic Activity of Multiple Myeloma Cells

Cancers, 2020-09, Vol.12 (9), p.2600

2020

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A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

Journal of human genetics, 2015-06, Vol.60 (6), p.287-293

2015

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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

Orphanet journal of rare diseases, 2011-10, Vol.6 (1), p.66-66

2011

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Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor

Data in brief, 2019-02, Vol.22, p.903-908

2019

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Extracellular vesicles mediate the communication between multiple myeloma and bone marrow microenvironment in a NOTCH dependent way

Haematologica (Roma), 2022-09, Vol.107 (9), p.2183-2194

2022

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Nanoplastic impact on bone microenvironment: a snapshot from murine bone cells

Journal of hazardous materials, 2024-01, Vol.462, p.132717-132717, Article 132717

2024

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D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR

Cellular and molecular life sciences : CMLS, 2018-05, Vol.75 (10), p.1889-1907

2018

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Sex Steroid Regulation of Oxidative Stress in Bone Cells: An In Vitro Study

International journal of environmental research and public health, 2021-11, Vol.18 (22), p.12168

2021

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Drug repositioning can accelerate discovery of pharmacological chaperones

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.55-55, Article 55

2015

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Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

Biochemical journal, 2020-01, Vol.477 (2), p.359-380

2020

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D2A-Ala peptide derived from the urokinase receptor exerts anti-tumoural effects in vitro and in vivo

Peptides (New York, N.Y. : 1980), 2018-03, Vol.101, p.17-24

2018

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutationsf

International journal of molecular sciences, 2016-12, Vol.17 (12), p.2010

2016

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Journal of visualized experiments, 2017-12 (130)

2017

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Journal of visualized experiments, 2017-12 (130)

2017

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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

Restoring Tissue Homeostasis at Metastatic Sites: A Focus on Extracellular Vesicles in Bone Metastasis

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase

The Potential of JAG Ligands as Therapeutic Targets and Predictive Biomarkers in Multiple Myeloma

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

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

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations

E-Learning for Rare Diseases: An Example Using Fabry Disease

A thermodynamic assay to test pharmacological chaperones for Fabry disease

Jagged Ligands Enhance the Pro-Angiogenic Activity of Multiple Myeloma Cells

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor

Extracellular vesicles mediate the communication between multiple myeloma and bone marrow microenvironment in a NOTCH dependent way

Nanoplastic impact on bone microenvironment: a snapshot from murine bone cells

D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR

Sex Steroid Regulation of Oxidative Stress in Bone Cells: An In Vitro Study

Drug repositioning can accelerate discovery of pharmacological chaperones

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

D2A-Ala peptide derived from the urokinase receptor exerts anti-tumoural effects in vitro and in vivo

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutationsf

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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