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Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

International journal of molecular sciences, 2020-01, Vol.21 (2), p.489

2020

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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

International journal of molecular sciences, 2019-08, Vol.20 (17), p.4164

2019

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Congenital disorders of glycosylation: narration of a story through its patents

Orphanet journal of rare diseases, 2023-08, Vol.18 (1), p.247-247, Article 247

2023

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Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy

International journal of molecular sciences, 2023-02, Vol.24 (5), p.4548

2023

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Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol

International journal of molecular sciences, 2022-03, Vol.23 (7), p.3536

2022

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Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach

BMC bioinformatics, 2020-08, Vol.21 (Suppl 10), p.348-348, Article 348

2020

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Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

International journal of molecular sciences, 2023-01, Vol.24 (2), p.1095

2023

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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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Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

Genes, 2024-02, Vol.15 (3), p.290

2024

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Immunological aspects of congenital disorders of glycosylation (CDG): a review

Journal of Inherited Metabolic Disease, 2016-11, Vol.39 (6), p.765-780

2016

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Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones

International journal of molecular sciences, 2022-05, Vol.23 (9), p.5105

2022

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Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-303, Article 303

2022

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Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

eLife, 2022-10, Vol.11

2022

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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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The current paradigm of cardiac troponin increase among athletes

Monaldi archives for chest disease, 2024-04

2024

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ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts

Biochimica et biophysica acta. General subjects, 2024-02, Vol.1868 (2), p.130526-130526, Article 130526

2024

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Mitral and Tricuspid Valve Disease in Athletes

Journal of clinical medicine, 2023-05, Vol.12 (10), p.3562

2023

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Looking for protein stabilizing drugs with thermal shift assay

Drug testing and analysis, 2015-09, Vol.7 (9), p.831-834

2015

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Use of Inotropics by Peripheral Vascular Line in the First Hour of Treatment of Pediatric Septic Shock: Experience at an Emergency Department

Pediatric emergency care, 2022-01, Vol.38 (1), p.e371-e377

2022

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Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation

Biochimie, 2024-07, Vol.222, p.123-131

2024

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Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19

European journal of medical genetics, 2021-06, Vol.64 (6), p.104227-104227, Article 104227

2021

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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Clinical epigenetics, 2020-09, Vol.12 (1), p.139, Article 139

2020

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Oxidoreductases and metal cofactors in the functioning of the earth

Essays in biochemistry, 2023-08, Vol.67 (4), p.653-670

2023

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Anticonvulsants and Peripheral Nerve Function: Results of Prospective Monitoring in Patients with Newly Diagnosed Epilepsy

Clinical drug investigation, 2000-09, Vol.20 (3), p.173-180

2000

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Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

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

Congenital disorders of glycosylation: narration of a story through its patents

Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy

Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol

Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

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

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

Immunological aspects of congenital disorders of glycosylation (CDG): a review

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones

Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

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

The current paradigm of cardiac troponin increase among athletes

ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts

Mitral and Tricuspid Valve Disease in Athletes

Looking for protein stabilizing drugs with thermal shift assay

Use of Inotropics by Peripheral Vascular Line in the First Hour of Treatment of Pediatric Septic Shock: Experience at an Emergency Department

Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Oxidoreductases and metal cofactors in the functioning of the earth

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Anticonvulsants and Peripheral Nerve Function: Results of Prospective Monitoring in Patients with Newly Diagnosed Epilepsy

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