Cubellis, Maria : rechercher sur Z-Library

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1

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

John J. Flanagan, Barbara Rossi, Katherine Tang, Xiaoyang Wu, Kirsten Mascioli, Francesca Donaudy, Maria Rosaria Tuzzi, Federica Fontana, Maria Vittoria Cubellis, Caterina Porto, Elfrida Benjamin, Dav

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 490 KB

english, 2009

2

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

Giuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, Pierangelo Orlando, Marco Cammisa, Antonella Correra, Maria Vittoria Cubellis

Journal:

Orphanet Journal of Rare Diseases

Année:

2011

Langue:

english

Fichier:

PDF, 519 KB

english, 2011

3

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

Giuseppina Andreotti, Maria L. Tutino, Giovanni Sannia, Gennaro Marino, Maria V. Cubellis

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Année:

1994

Langue:

english

Fichier:

PDF, 618 KB

english, 1994

4

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

Giuseppina Andreotti, Mario R Guarracino, Marco Cammisa, Antonella Correra, Maria Vittoria Cubellis

Journal:

Orphanet Journal of Rare Diseases

Année:

2010

Langue:

english

Fichier:

PDF, 741 KB

english, 2010

5

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

Cammisa, Marco, Correra, Antonella, Andreotti, Giuseppina, Cubellis, Maria

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 259 KB

english, 2013

6

Relational and conjunctive binding functions dissociate in short-term memory

Parra, Mario A., Fabi, Katia, Luzzi, Simona, Cubelli, Roberto, Hernandez Valdez, Maria, Della Sala, Sergio

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 379 KB

english, 2015

7

Drug repositioning can accelerate discovery of pharmacological chaperones

Hay Mele, Bruno, Citro, Valentina, Andreotti, Giuseppina, Cubellis, Maria Vittoria

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 414 KB

english, 2015

8

Cloning and sequence analysis of a cdna encoding bovine cytosolic aspartate aminotransferase

Vincenzo Aurilia, Antonietta Palmisano, Lino Ferrara, Maria Vittoria Cubellis, Giovanni Sannia, Gennaro Marino

Journal:

International Journal of Biochemistry

Année:

1993

Langue:

english

Fichier:

PDF, 624 KB

english, 1993

9

Use of fast protein liquid chromatography for the purification of synthetic oligonucleotides

Maria Vittoria Cubellis, Gennaro Marino, Luciano Mayol, Gennaro Piccialli, Giovanni Sannia

Journal:

Journal of Chromatography A

Année:

1985

Langue:

english

Fichier:

PDF, 384 KB

english, 1985

10

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

Fiorella Alfinito, Amelia Cimmino, Filomena Ferraro, Maria Vittoria Cubellis, Luigi Vitagliano, Matteo Francese, Adriana Zagari, Bruno Rotoli, Stefania Filosa, Giuseppe Martini

Journal:

British Journal of Haematology

Année:

1997

Langue:

english

Fichier:

PDF, 707 KB

english, 1997

11

Preparation and characterization of geodin : A βγ-crystallin-type protein from a sponge

Concetta Giancola, Elio Pizzo, Antimo Di Maro, Maria Vittoria Cubellis, Giuseppe D'Alessio

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 543 KB

english, 2005

12

The active site of Sulfolobus solfataricus aspartate aminotransferase

Leila Birolo, Maria Immacolata Arnone, Maria Vittoria Cubellis, Giuseppina Andreotti, Gianpaolo Nitti, Gennaro Marino, Giovanni Sannia

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Année:

1991

Langue:

english

Fichier:

PDF, 527 KB

english, 1991

13

An extremely thermostable aromatic aminotransferase from the hyperthermophilic archaeon Pyrococcus furiosus

Giuseppina Andreotti, Maria Vittoria Cubellis, Gianpaolo Nitti, Giovanni Sannia, Xuhong Mai, Michael W.W. Adams, Gennaro Marino

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Année:

1995

Langue:

english

Fichier:

PDF, 626 KB

english, 1995

14

Secondary structure assignment that accurately reflects physical and evolutionary characteristics

Maria Vittoria Cubellis, Fabien Cailliez, Simon C Lovell

Journal:

BMC Bioinformatics

Année:

2005

Langue:

english

Fichier:

PDF, 302 KB

english, 2005

15

In silico docking of urokinase plasminogen activator and integrins

Bernard Degryse, Juan Fernandez-Recio, Valentina Citro, Francescol Blasi, Maria Vittoria Cubellis

Journal:

BMC Bioinformatics

Année:

2008

Langue:

english

Fichier:

PDF, 1.88 MB

english, 2008

16

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

Maria Vittoria CUBELLIS, Carla ROZZO, Gianpaolo NITTI, Maria Immacolata ARNONE, Gennaro MARINO, Giovanni SANNIA

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 742 KB

english, 1989

17

Characterization of aromatic aminotransferases from the hyperthermophilic archaeon Thermococcus litoralis

Giuseppina ANDREOTTI, Maria Vittoria CUBELLIS, Gianpaolo NITTI, Giovanni SANNIA, Xuhong MAI, Gennaro MARINO, Michael W. W. ADAMS

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 864 KB

english, 1994

18

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

Maria Vittoria Cubellis, Giuseppe D’Alessio

Journal:

Journal of Molecular Biology

Année:

2000

Langue:

english

Fichier:

PDF, 352 KB

english, 2000

19

Nucleotide sequence of a cDNA coding for bovine mitochondrial aspartate aminotransferase

Antonietta Palmisano, Vincenzo Aurilia, Lino Ferrara, Maria Vittoria Cubellis, Giovanni Sannia, Gennaro Marino

Journal:

The International Journal of Biochemistry & Cell Biology

Année:

1995

Langue:

english

Fichier:

PDF, 514 KB

english, 1995

20

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

Antimo Di Maro, Elio Pizzo, Maria Vittoria Cubellis, Giuseppe D'Alessio

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 298 KB

english, 2002

21

Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes

Maria Pia Sperandeo, Paola Ungaro, Maria Vernucci, Paolo V. Pedone, Flavia Cerrato, Lucia Perone, Stefano Casola, Maria Vittoria Cubellis, Carmelo B. Bruni, Generoso Andria, Gianfranco Sebastio, Andre

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 710 KB

english, 2000

22

A thermodynamic assay to test pharmacological chaperones for Fabry disease

Andreotti, Giuseppina, Citro, Valentina, Correra, Antonella, Cubellis, Maria Vittoria

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Année:

2014

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2014

23

Different patterns of dissociation in unilateral spatial neglect

Cubelli, Roberto, Nichelli, Paolo, Bonito, Virginio, De Tanti, Antonio, Inzaghi, Maria Grazia

Journal:

Brain and Cognition

Année:

1991

Langue:

english

Fichier:

PDF, 2.55 MB

english, 1991

24

Isolation and sequencing of a new β-galactosidase-encoding archaebacterial gene

Cubellis, Maria Vittoria, Rozzo, Carla, Montecucchi, Piercarlo, Rossi, Mosè

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 640 KB

english, 1990

25

Antitumor Action of Seminal Ribonuclease, Its Dimeric Structure, and Its Resistance to the Cytosolic Ribonuclease Inhibitor †

Antignani, Antonella, Naddeo, Mariarosaria, Cubellis, Maria Vittoria, Russo, Aniello, D'Alessio, Giuseppe

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 101 KB

english, 2001

26

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

Cardarelli, Laura, Sparago, Angela, De Crescenzo, Agostina, Nalesso, Elisa, Zavan, Barbara, Cubellis, Maria Vittoria, Selicorni, Angelo, Cavicchioli, Paola, Pozzan, Giovanni Battista, Petrella, Marile

Journal:

Pediatric and Developmental Pathology

Année:

2010

Langue:

english

Fichier:

PDF, 577 KB

english, 2010

27

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

Andreotti, Giuseppina, Pedone, Emilia, Giordano, Assunta, Cubellis, Maria Vittoria

Journal:

Molecular Genetics & Genomic Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 745 KB

english, 2013

28

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

Azzollini, Jacopo, Rovina, Davide, Gervasini, Cristina, Parenti, Ilaria, Fratoni, Alessia, Cubellis, Maria Vittoria, Cerri, Amilcare, Pietrogrande, Luca, Larizza, Lidia

Journal:

Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2014

29

Gain of function in CDKN1C

Riccio, Andrea, Cubellis, Maria Vittoria

Journal:

Nature Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 145 KB

english, 2012

30

Identification of a Novel Mutation in the Myosin VIIA Motor Domain in a Family with Autosomal Dominant Hearing Loss (DFNA11)

Di Leva, Francesca, D&rsquo, Adamo, Pio, Cubellis, Maria Vittoria, D&rsquo, Eustacchio, Angela, Errichiello, Monica, Saulino, Claudio, Auletta, Gennaro, Giannini, Pasquale, Donaudy, Francesca, Ciccodico

Journal:

Audiology & Neuro-Otology

Année:

2006

Langue:

english

Fichier:

PDF, 379 KB

english, 2006

31

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

De Crescenzo, Agostina, Citro, Valentina, Freschi, Andrea, Sparago, Angela, Palumbo, Orazio, Cubellis, Maria Vittoria, Carella, Massimo, Castelluccio, Pia, Cavaliere, Maria Luigia, Cerrato, Flavia, Ri

Journal:

Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2015

32

Taming molecular flexibility to tackle rare diseases

Cubellis, Maria Vittoria, Baaden, Marc, Andreotti, Giuseppina

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 785 KB

english, 2015

33

CDKN1C mutations: two sides of the same coin

Eggermann, Thomas, Binder, Gerhard, Brioude, Frédéric, Maher, Eamonn R., Lapunzina, Pablo, Cubellis, Maria Vittoria, Bergadá, Ignacio, Prawitt, Dirk, Begemann, Matthias

Journal:

Trends in Molecular Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 821 KB

english, 2014

34

Looking for protein stabilizing drugs with thermal shift assay

Andreotti, Giuseppina, Monticelli, Maria, Cubellis, Maria Vittoria

Journal:

Drug Testing and Analysis

Année:

2015

Langue:

english

Fichier:

PDF, 476 KB

english, 2015

35

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

CIOFFI, Anna Valentina, FERRARA, Diana, CUBELLIS, Maria Vittoria, ANIELLO, Francesco, CORRADO, Marcella, LIGUORI, Francesca, AMOROSO, Alessandro, FUCCI, Laura, BRANNO, Margherita

Journal:

Biochemical Journal

Année:

2002

Langue:

english

Fichier:

PDF, 364 KB

english, 2002

36

Ambroxol and bromhexine derivatives as pharmacological chaperones for mutant glucocerebrosidase

Lukas, Jan, Seemann, Susanne, Sharif, Muhammad, Zheng, Chaonan, Cimmaruta, Chiara, Braunstein, Hila, Pews-Davtyan, Anahit, Mieske, Elisabeth, Andreotti, Giuseppina, Cubellis, Maria V, Beller, Matthias

Journal:

Molecular Genetics and Metabolism

Année:

2017

Langue:

english

Fichier:

PDF, 45 KB

english, 2017

37

Brain Metastases from Biliary Tract Cancer: A Monocentric Retrospective Analysis of 450 Patients

Frega, Giorgio, Garajová, Ingrid, Palloni, Andrea, Barbera, Maria Aurelia, Trossello Pastore, Marco, Faccioli, Luca, Spinardi, Luca, De Lorenzo, Stefania, Cubelli, Marta, Pantaleo, Maria Abbondanza, B

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 182 KB

english, 2017

38

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

Eden, Gabriele, Archinti, Marco, Arnaudova, Ralitsa, Andreotti, Giuseppina, Motta, Andrea, Furlan, Federico, Citro, Valentina, Cubellis, Maria Vittoria, Degryse, Bernard

Journal:

Cellular and Molecular Life Sciences

Année:

2017

Langue:

english

Fichier:

PDF, 2.47 MB

english, 2017

39

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

Lukas, Jan, Knospe, Anne-Marie, Seemann, Susanne, Citro, Valentina, Cubellis, Maria V., Rolfs, Arndt

Journal:

Journal of Visualized Experiments

Année:

2017

Langue:

english

Fichier:

PDF, 247 KB

english, 2017

40

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

Furlan, Federico, Eden, Gabriele, Archinti, Marco, Arnaudova, Ralitsa, Andreotti, Giuseppina, Citro, Valentina, Cubellis, Maria Vittoria, Motta, Andrea, Degryse, Bernard

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 950 KB

english, 2018

41

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

Andreotti, Giuseppina, Monti, Maria Chiara, Citro, Valentina, Cubellis, Maria Vittoria, Gasset, Maria

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2015

42

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

Citro, Valentina, Peña-García, Jorge, den-Haan, Helena, Pérez-Sánchez, Horacio, Del Prete, Rosita, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina, Wi

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 2.30 MB

english, 2016

43

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

Citro, Valentina, Cammisa, Marco, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria, Andreotti, Giuseppina

Journal:

International Journal of Molecular Sciences

Année:

2016

Langue:

english

Fichier:

PDF, 933 KB

english, 2016

44

Identification of Trombospondin-1 as a Novel Amelogenin Interactor by Functional Proteomics

Capolupo, Angela, Cassiano, Chiara, Casapullo, Agostino, Andreotti, Giuseppina, Cubellis, Maria V., Riccio, Andrea, Riccio, Raffaele, Monti, Maria C.

Journal:

Frontiers in Chemistry

Année:

2017

Langue:

english

Fichier:

PDF, 767 KB

english, 2017

45

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

Citro, Valentina, Cimmaruta, Chiara, Monticelli, Maria, Riccio, Guglielmo, Hay Mele, Bruno, Cubellis, Maria, Andreotti, Giuseppina

Journal:

International Journal of Molecular Sciences

Année:

2018

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2018

46

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

Cimmaruta, Chiara, Citro, Valentina, Andreotti, Giuseppina, Liguori, Ludovica, Cubellis, Maria Vittoria, Hay Mele, Bruno

Journal:

BMC Bioinformatics

Année:

2018

Langue:

english

Fichier:

PDF, 733 KB

english, 2018

47

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

Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Andreotti, Giuseppina, Cubellis, Maria Vittoria

Journal:

International Journal of Molecular Sciences

Année:

2019

Langue:

english

Fichier:

PDF, 2.72 MB

english, 2019

48

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

Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Andreotti, Giuseppina, Cubellis, Maria Vittoria

Journal:

International Journal of Molecular Sciences

Année:

2019

Fichier:

PDF, 2.72 MB

2019

49

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

Liguori, Ludovica, Monticelli, Maria, Allocca, Mariateresa, Hay Mele, Bruno, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina

Journal:

International Journal of Molecular Sciences

Année:

2020

Langue:

english

Fichier:

PDF, 2.57 MB

english, 2020

50

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

Lukas, Jan, Cimmaruta, Chiara, Liguori, Ludovica, Pantoom, Supansa, Iwanov, Katharina, Petters, Janine, Hund, Christina, Bunschkowski, Maik, Hermann, Andreas, Cubellis, Maria Vittoria, Rolfs, Arndt

Journal:

International Journal of Molecular Sciences

Année:

2020

Langue:

english

Fichier:

PDF, 2.06 MB

english, 2020