List of works - Maria Vittoria Cubellis

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

scientific article

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

scientific article published on 19 December 2017

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

scientific article

A thermodynamic assay to test pharmacological chaperones for Fabry disease.

scientific article published on 21 December 2013

Accessibility of receptor-bound urokinase to type-1 plasminogen activator inhibitor

scientific journal article

An EcoRI polymorphism for the PLAUR gene ⬇️

scientific article published on December 11, 1991

An extremely thermostable aromatic aminotransferase from the hyperthermophilic archaeon Pyrococcus furiosus.

scientific article

An intron-less βγ-crystallin-type gene from the sponge Geodia cydonium

article

An open reading frame in intron seven of the sea urchin DNA-methyltransferase gene codes for a functional AP1 endonuclease.

scientific article

Antitumor action of seminal ribonuclease, its dimeric structure, and its resistance to the cytosolic ribonuclease inhibitor

scientific article published on March 2001

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

scientific article published on 31 January 2020

Autocrine saturation of pro-urokinase receptors on human A431 cells

scientific article published in June 1986

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

scientific article published on 16 September 2020

Binding of single-chain prourokinase to the urokinase receptor of human U937 cells

scientific journal article

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

scientific article published on 27 March 2013

CDKN1C mutations: two sides of the same coin.

scientific article published on 25 September 2014

Characterization of aromatic aminotransferases from the hyperthermophilic archaeon Thermococcus litoralis.

scientific article published in March 1994

Cloning and sequence analysis of A cDNA encoding bovine cytosolic aspartate aminotransferase.

scientific article published on October 1993

Cloning and sequencing of the gene coding for aspartate aminotransferase from the thermoacidophilic archaebacterium Sulfolobus solfataricus

scientific article

Comparative studies on thermophilicity and thermostability of aspartate aminotransferases.

scientific article published in December 1993

Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.

scientific article

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

scientific article published on 01 February 2008

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

scientific article published on 04 May 2022

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

scientific article published in 2024

Drug repositioning can accelerate discovery of pharmacological chaperones

scientific article published on 7 May 2015

Environment specific substitution tables for thermophilic proteins

scientific article

Expression of a hyperthermophilic aspartate aminotransferase in Escherichia coli

scientific article published in November 1992

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.

scientific article published on 24 July 2013

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

scientific article published on 2 October 2014

Gain of function in CDKN1C

scientific article

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

scientific article published on 21 October 2015

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

scientific article

Identification and analysis of conserved pockets on protein surfaces

scientific article

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

scientific article

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

scientific article

In silico docking of urokinase plasminogen activator and integrins

scientific article

Indole-3-glycerol-phosphate synthase from Sulfolobus solfataricus as a model for studying thermostable TIM-barrel enzymes.

scientific article published in October 1994

Limited proteolysis as a probe of conformational changes in aspartate aminotransferase from Sulfolobus solfataricus

scientific article published on 01 March 1992

Looking for protein stabilizing drugs with thermal shift assay.

scientific article published on 5 April 2015

Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis)

article

Nucleotide sequence of a cDNA coding for bovine mitochondrial aspartate aminotransferase.

scientific article published on May 1995

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

scientific article published on 13 January 2020

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

scientific article

Preparation and characterization of geodin. A betagamma-crystallin-type protein from a sponge

scientific article published in February 2005

Properties of polyproline II, a secondary structure element implicated in protein-protein interactions

scientific article published in March 2005

Ribonucleases and angiogenins from fish

scientific article published on 21 July 2006

Secondary structure assignment that accurately reflects physical and evolutionary characteristics.

scientific article published in December 2005

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

scientific article published on 01 July 2010

Stability of a thermophilic TIM-barrel enzyme: indole-3-glycerol phosphate synthase from the thermophilic archaeon Sulfolobus solfataricus

scientific article published on April 1997

Stability of aspartate aminotransferase from Sulfolobus solfataricus.

scientific article published in March 1997

Taming molecular flexibility to tackle rare diseases.

scientific article published on 2 April 2015

The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

scientific article published on 30 July 2018

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

scientific article published on 14 September 2011

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

scientific article

The active site of Sulfolobus solfataricus aspartate aminotransferase.

scientific article published in November 1991

The interconversion of isoforms of seminal ribonuclease: modelling key intermediates and trypsin effects

scientific article published in August 2000

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

scientific article published on 30 October 2012

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

scientific article published in December 2009

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

scientific article published on 11 December 2019

The receptor for urokinase-plasminogen activator.

scientific article

The urokinase receptor and regulation of cell surface plasminogen activation.

scientific article published on December 1990

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

scientific article published on 17 October 2011

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 ⬇️

scientific article published on 26 August 2019

List of works by Maria Vittoria Cubellis

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

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

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

A thermodynamic assay to test pharmacological chaperones for Fabry disease.

Accessibility of receptor-bound urokinase to type-1 plasminogen activator inhibitor

An EcoRI polymorphism for the PLAUR gene ⬇️

An extremely thermostable aromatic aminotransferase from the hyperthermophilic archaeon Pyrococcus furiosus.

An intron-less βγ-crystallin-type gene from the sponge Geodia cydonium

An open reading frame in intron seven of the sea urchin DNA-methyltransferase gene codes for a functional AP1 endonuclease.

Antitumor action of seminal ribonuclease, its dimeric structure, and its resistance to the cytosolic ribonuclease inhibitor

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

Autocrine saturation of pro-urokinase receptors on human A431 cells

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

Binding of single-chain prourokinase to the urokinase receptor of human U937 cells

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

CDKN1C mutations: two sides of the same coin.

Characterization of aromatic aminotransferases from the hyperthermophilic archaeon Thermococcus litoralis.

Cloning and sequence analysis of A cDNA encoding bovine cytosolic aspartate aminotransferase.

Cloning and sequencing of the gene coding for aspartate aminotransferase from the thermoacidophilic archaebacterium Sulfolobus solfataricus

Comparative studies on thermophilicity and thermostability of aspartate aminotransferases.

Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

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

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

Drug repositioning can accelerate discovery of pharmacological chaperones

Environment specific substitution tables for thermophilic proteins

Expression of a hyperthermophilic aspartate aminotransferase in Escherichia coli

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

Gain of function in CDKN1C

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Identification and analysis of conserved pockets on protein surfaces

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

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

In silico docking of urokinase plasminogen activator and integrins

Indole-3-glycerol-phosphate synthase from Sulfolobus solfataricus as a model for studying thermostable TIM-barrel enzymes.

Limited proteolysis as a probe of conformational changes in aspartate aminotransferase from Sulfolobus solfataricus

Looking for protein stabilizing drugs with thermal shift assay.

Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis)

Nucleotide sequence of a cDNA coding for bovine mitochondrial aspartate aminotransferase.

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

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

Preparation and characterization of geodin. A betagamma-crystallin-type protein from a sponge

Properties of polyproline II, a secondary structure element implicated in protein-protein interactions

Ribonucleases and angiogenins from fish

Secondary structure assignment that accurately reflects physical and evolutionary characteristics.

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

Stability of a thermophilic TIM-barrel enzyme: indole-3-glycerol phosphate synthase from the thermophilic archaeon Sulfolobus solfataricus

Stability of aspartate aminotransferase from Sulfolobus solfataricus.

Taming molecular flexibility to tackle rare diseases.

The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

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

The active site of Sulfolobus solfataricus aspartate aminotransferase.

The interconversion of isoforms of seminal ribonuclease: modelling key intermediates and trypsin effects

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 pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

The receptor for urokinase-plasminogen activator.

The urokinase receptor and regulation of cell surface plasminogen activation.

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

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 ⬇️