M. Vittoria Cubellis: search on 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:

Year:

2009

Language:

english

File:

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

Year:

2011

Language:

english

File:

PDF, 519 KB

english, 2011

3

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

Year:

2010

Language:

english

File:

PDF, 741 KB

english, 2010

4

Drug repositioning can accelerate discovery of pharmacological chaperones

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 414 KB

english, 2015

5

The receptor for urokinase-plasminogen activator

Francesco Blasi, M. Patrizia Stoppelli, M. Vittoria Cubellis

Journal:

Journal of Cellular Biochemistry

Year:

1986

Language:

english

File:

PDF, 425 KB

english, 1986

6

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

Year:

1993

Language:

english

File:

PDF, 624 KB

english, 1993

7

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

Year:

1985

Language:

english

File:

PDF, 384 KB

english, 1985

8

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

Year:

1997

Language:

english

File:

PDF, 707 KB

english, 1997

9

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:

Year:

2005

Language:

english

File:

PDF, 543 KB

english, 2005

10

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

Year:

1991

Language:

english

File:

PDF, 527 KB

english, 1991

11

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

Year:

1995

Language:

english

File:

PDF, 626 KB

english, 1995

12

The urokinase receptor and regulation of cell surface plasminogen activation

Francesco Blasi, M. Vittoria Cubellis, M. Teresa Masucci, Lisbeth B. Møller, David P. Olson, Nina Pedersen, Niels Behrendt, Vincent Ellis, Leif R. Lund, Michael Ploug, Ebbe Rønne, Keld Danø

Journal:

Cell Differentiation and Development

Year:

1990

Language:

english

File:

PDF, 583 KB

english, 1990

13

Secondary structure assignment that accurately reflects physical and evolutionary characteristics

Maria Vittoria Cubellis, Fabien Cailliez, Simon C Lovell

Journal:

BMC Bioinformatics

Year:

2005

Language:

english

File:

PDF, 302 KB

english, 2005

14

In silico docking of urokinase plasminogen activator and integrins

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

Journal:

BMC Bioinformatics

Year:

2008

Language:

english

File:

PDF, 1.88 MB

english, 2008

15

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:

Year:

1989

Language:

english

File:

PDF, 742 KB

english, 1989

16

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:

Year:

1994

Language:

english

File:

PDF, 864 KB

english, 1994

17

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

Maria Vittoria Cubellis, Giuseppe D’Alessio

Journal:

Journal of Molecular Biology

Year:

2000

Language:

english

File:

PDF, 352 KB

english, 2000

18

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

Year:

1995

Language:

english

File:

PDF, 514 KB

english, 1995

19

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

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

Journal:

Year:

2002

Language:

english

File:

PDF, 298 KB

english, 2002

20

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

Year:

2000

Language:

english

File:

PDF, 710 KB

english, 2000

21

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

Year:

2014

Language:

english

File:

PDF, 1.09 MB

english, 2014

22

Autocrine saturation of pro-urokinase receptors on human A431 cells

Stoppelli, M.Patrizia, Tacchetti, Carlo, Cubellis, M.Vittoria, Corti, Angelo, Hearings, Vincent J., Cassani, Giovanni, Appella, Ettore, Blasi, Francesco

Journal:

Year:

1986

Language:

english

File:

PDF, 4.10 MB

english, 1986

23

Interaction between receptor-bound uPA and its inhibitor type-1 (PAI-1) in human U937 cells

Vittoria Cubellis, M., Andreasen, P., Ragno, P., Mayer, M., Dano, K., Blasi, F.

Journal:

Fibrinolysis and Proteolysis

Year:

1989

Language:

english

File:

PDF, 201 KB

english, 1989

24

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

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

Journal:

Year:

1990

Language:

english

File:

PDF, 640 KB

english, 1990

25

Accessibility of Receptor-Bound Urokinase to Type-1 Plasminogen Activator Inhibitor

M. Vittoria Cubellis, Peter Andreasen, Pia Ragno, Michael Mayer, Keld Danø and Francesco Blasi

Journal:

Proceedings of the National Academy of Sciences

Year:

1989

Language:

english

File:

PDF, 1.35 MB

english, 1989

26

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:

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

27

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

Year:

2010

Language:

english

File:

PDF, 577 KB

english, 2010

28

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

Year:

2013

Language:

english

File:

PDF, 745 KB

english, 2013

29

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

Year:

2014

Language:

english

File:

PDF, 1.29 MB

english, 2014

30

Gain of function in CDKN1C

Riccio, Andrea, Cubellis, Maria Vittoria

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 145 KB

english, 2012

31

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

Year:

2006

Language:

english

File:

PDF, 379 KB

english, 2006

32

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

Year:

2015

Language:

english

File:

PDF, 1.07 MB

english, 2015

33

Taming molecular flexibility to tackle rare diseases

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

Journal:

Year:

2015

Language:

english

File:

PDF, 785 KB

english, 2015

34

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

Year:

2014

Language:

english

File:

PDF, 821 KB

english, 2014

35

Looking for protein stabilizing drugs with thermal shift assay

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

Journal:

Drug Testing and Analysis

Year:

2015

Language:

english

File:

PDF, 476 KB

english, 2015

36

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

Year:

2002

Language:

english

File:

PDF, 364 KB

english, 2002

37

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

ANDREOTTI, Giuseppina, CUBELLIS, M. Vittoria, DI PALO, Michela, FESSAS, Dimitrios, SANNIA, Giovanni, MARINO, Gennaro

Journal:

Biochemical Journal

Year:

1997

Language:

english

File:

PDF, 468 KB

english, 1997

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

Year:

2017

Language:

english

File:

PDF, 2.47 MB

english, 2017

39

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:

Year:

2018

Language:

english

File:

PDF, 950 KB

english, 2018

40

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

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

Journal:

Year:

2015

Language:

english

File:

PDF, 2.02 MB

english, 2015

41

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:

Year:

2016

Language:

english

File:

PDF, 2.30 MB

english, 2016

42

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

Year:

2018

Language:

english

File:

PDF, 733 KB

english, 2018

43

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

Year:

2019

Language:

english

File:

PDF, 2.72 MB

english, 2019

44

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

Year:

2019

File:

PDF, 2.72 MB

2019

45

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

Year:

2020

Language:

english

File:

PDF, 2.57 MB

english, 2020

46

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

Year:

2020

Language:

english

File:

PDF, 2.06 MB

english, 2020

47

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

Liguori, Ludovica, Monticelli, Maria, Allocca, Mariateresa, Cubellis, Maria Vittoria, Hay Mele, Bruno

Journal:

BMC Bioinformatics

Year:

2020

File:

PDF, 3.29 MB

2020

48

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

Cubellis, Maria Vittoria, Pignata, Laura, Verma, Ankit, Sparago, Angela, Del Prete, Rosita, Monticelli, Maria, Calzari, Luciano, Antona, Vincenzo, Melis, Daniela, Tenconi, Romano, Russo, Silvia, Cerra

Journal:

Clinical Epigenetics

Year:

2020

File:

PDF, 1.48 MB

2020

49

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

Fatemi, Nayeralsadat, Salehi, Najmeh, Pignata, Laura, Palumbo, Pietro, Cubellis, Maria Vittoria, Ramazanali, Fariba, Ray, Pierre, Varkiani, Maryam, Reyhani-Sabet, Fakhreddin, Biglari, Alireza, Sparago

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 1.27 MB

2020

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