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1

Lysosomal storage diseases

Platt, Frances M., d’Azzo, Alessandra, Davidson, Beverly L., Neufeld, Elizabeth F., Tifft, Cynthia J.

Journal:

Nature Reviews Disease Primers

Year:

2018

Language:

english

File:

PDF, 3.71 MB

english, 2018

2

Galactosialidosis: review and analysis ofCTSAgene mutations

Anna Caciotti, Serena Catarzi, Rodolfo Tonin, Licia Lugli, Carmen Rodriguez Perez, Helen Michelakakis, Irene Mavridou, Maria Alice Donati, Renzo Guerrini, Alessandra d’Azzo, Amelia Morrone…show all 11

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 320 KB

english, 2013

3

Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient

Zammarchi, Enrico, Donati, Maria Alice, Morrone, Amelia, Donzelli, Gian Paolo, Zhou, Xiao Yan, D'Azzo, Alessandra

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 631 KB

english, 1996

4

Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

Cláudia M.D. Silva, Márcia H. Severini, Andréia Sopelsa, Janice C. Coelho, Arnaldo Zaha, Alessandra d'Azzo, Roberto Giugliani

Journal:

Year:

1999

Language:

english

File:

PDF, 303 KB

english, 1999

5

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

Amelia Morrone, Hans Morreau, Xiao Yan Zhou, Enrico Zammarchi, Wim J. Kleijer, Hans Galjaard, Alessandra d'Azzo

Journal:

Year:

1994

Language:

english

File:

PDF, 1.42 MB

english, 1994

6

Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

Anna Caciotti, Maria Alice Donati, Avihu Boneh, Alessandra d'Azzo, Antonio Federico, Rossella Parini, Danielas Antuzzi, Tiziana Bardelli, Daniele Nosi, Virginia Kimonis, Enrico Zammarchi, Amelia Morro

Journal:

Year:

2005

Language:

english

File:

PDF, 323 KB

english, 2005

7

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

Anna Caciotti, Maria Alice Donati, Elena Procopio, Mirella Filocamo, Wim Kleijer, Wim Wuyts, Bettina Blaumeiser, Alessandra d'Azzo, Lisa Simi, Claudio Orlando, Fiona McKenzie, Agata Fiumara, Enrico Za

Journal:

Year:

2007

Language:

english

File:

PDF, 242 KB

english, 2007

8

N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis

Julie L. Kasperzyk, Mohga M. El-Abbadi, Eric C. Hauser, Alessandra D'Azzo, Frances M. Platt, Thomas N. Seyfried

Journal:

Journal of Neurochemistry

Year:

2004

Language:

english

File:

PDF, 140 KB

english, 2004

9

The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect

C. Danesino, Alessandra D'Azzo, Paola Maraschio, M. Fraccaro

Journal:

Year:

1978

Language:

english

File:

PDF, 352 KB

english, 1978

10

Evidence for the deficiency of β-glucosidase-activating factor in fibroblasts of patients with I-cell disease

Raymonda Varon, Willem J. Kleijer, Emrah J. Thompson, Alessandra d'Azzo

Journal:

Year:

1982

Language:

english

File:

PDF, 449 KB

english, 1982

11

Modulating action of the new polymorphism L436F detected in theGLB1gene of a type-II GM1 gangliosidosis patient

Anna Caciotti, Tiziana Bardelli, John Cunningham, Alessandra D'Azzo, Enrico Zammarchi, Amelia Morrone

Journal:

Year:

2003

Language:

english

File:

PDF, 249 KB

english, 2003

12

Expression Specificity of GFAP Transgenes

Mu Su, Huimin Hu, Youngjin Lee, Alessandra D’Azzo, Albee Messing, Michael Brenner

Journal:

Neurochemical Research

Year:

2004

Language:

english

File:

PDF, 714 KB

english, 2004

13

Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice

Christine A. Denny, Joseph Alroy, Basil S. Pawlyk, Michael A. Sandberg, Alessandra D’Azzo, Thomas N. Seyfried

Journal:

Journal of Neurochemistry

Year:

2007

Language:

english

File:

PDF, 958 KB

english, 2007

14

E3 Ubiquitin Ligases as Regulators of Membrane Protein Trafficking and Degradation

Alessandra d'Azzo, Antonella Bongiovanni, Tommaso Nastasi

Journal:

Year:

2005

Language:

english

File:

PDF, 1.85 MB

english, 2005

15

Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase

Loren, David J, Campos, Yvan, d'Azzo, Alessandra, Wyble, Lance, Grange, Dorothy K, Gilbert-Barness, Enid, White, Frances V, Hamvas, Aaron

Journal:

Journal of Perinatology

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

16

Increase in macrophages in the testis of cathepsin a deficient mice suggests an important role for these cells in the interstitial space of this tissue

Nadine Korah, Charles E. Smith, Alessandra D'Azzo, Mohammed El-Alfy, Louis Hermo

Journal:

Molecular Reproduction and Development

Year:

2003

Language:

english

File:

PDF, 1.44 MB

english, 2003

17

Characterization of cell- and region-specific abnormalities in the epididymis of cathepsin a deficient mice

Nadine Korah, Charles E. Smith, Alessandra d'Azzo, Jeannie Mui, Louis Hermo

Journal:

Molecular Reproduction and Development

Year:

2003

Language:

english

File:

PDF, 1.13 MB

english, 2003

18

The potential action of galactose as a “chemical chaperone”: Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient

Anna Caciotti, Maria Alice Donati, Alessandra d'Azzo, Rosa Salvioli, Renzo Guerrini, Enrico Zammarchi, Amelia Morrone

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 177 KB

english, 2009

19

Three-dimensional structure of the human protective protein: structure of the precursor form suggests a complex activation mechanism

Gabby Rudenko, Erik Bonten, Alessandra d'Azzo, Wim GJ Hol

Journal:

Year:

1995

Language:

english

File:

PDF, 1.47 MB

english, 1995

20

Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice

Xudong Wu, Katherine A. Steigelman, Erik Bonten, Huimin Hu, Wenxuan He, Tianying Ren, Jian Zuo, Alessandra d’Azzo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2010

Language:

english

File:

PDF, 3.63 MB

english, 2010

21

Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue

Edmar Zanoteli, Diantha van de Vlekkert, Erik J. Bonten, Huimin Hu, Linda Mann, Elida M. Gomero, A. John Harris, Giulio Ghersi, Alessandra d'Azzo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2010

Language:

english

File:

PDF, 9.52 MB

english, 2010

22

Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1

Dongning Wang, Slava Zaitsev, Garry Taylor, Alessandra d'Azzo, Erik Bonten

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

2009

Language:

english

File:

PDF, 1.17 MB

english, 2009

23

GM1-ganglioside degradation and biosynthesis in human and murine GM1-gangliosidosis

Renata Sano, Vera M.T. Trindade, Alessandra Tessitore, Alessandra d'Azzo, Matheus B. Vieira, Roberto Giugliani, Janice C. Coelho

Journal:

Clinica Chimica Acta

Year:

2005

Language:

english

File:

PDF, 164 KB

english, 2005

24

Neuraminidase 1 Is a Negative Regulator of Lysosomal Exocytosis

Gouri Yogalingam, Erik J. Bonten, Diantha van de Vlekkert, Huimin Hu, Simon Moshiach, Samuel A. Connell, Alessandra d'Azzo

Journal:

Developmental Cell

Year:

2008

Language:

english

File:

PDF, 1.80 MB

english, 2008

25

GM1-Ganglioside-Mediated Activation of the Unfolded Protein Response Causes Neuronal Death in a Neurodegenerative Gangliosidosis

Alessandra Tessitore, Maria del P. Martin, Renata Sano, Yanjun Ma, Linda Mann, Angela Ingrassia, Eric D. Laywell, Dennis A. Steindler, Linda M. Hendershot, Alessandra d'Azzo

Journal:

Year:

2004

Language:

english

File:

PDF, 801 KB

english, 2004

26

GM1-Ganglioside Accumulation at the Mitochondria-Associated ER Membranes Links ER Stress to Ca2+-Dependent Mitochondrial Apoptosis

Renata Sano, Ida Annunziata, Annette Patterson, Simon Moshiach, Elida Gomero, Joseph Opferman, Michael Forte, Alessandra d'Azzo

Journal:

Year:

2009

Language:

english

File:

PDF, 1.84 MB

english, 2009

27

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the β-galactosidase/neuraminidase complex and the EBP-receptor

Sabrina Malvagia, Amelia Morrone, Anna Caciotti, Tiziana Bardelli, Alessandra d’Azzo, Gina Ancora, Enrico Zammarchi, Maria Alice Donati

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 752 KB

english, 2004

28

Short-term, high dose enzyme replacement therapy in sialidosis mice

Dongning Wang, Erik J. Bonten, Gouri Yogalingam, Linda Mann, Alessandra d’Azzo

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.96 MB

english, 2005

29

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

Elena Elliot-Smith, Anneliese O. Speak, Emyr Lloyd-Evans, David A. Smith, Aarnoud C. van der Spoel, Mylvaganam Jeyakumar, Terry D. Butters, Raymond A. Dwek, Alessandra d’Azzo, Frances M. Platt

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 835 KB

english, 2008

30

35. NEU1 is a negative regulator of lysosomal exocytosis

Alessandra d’Azzo, Erik Bonten, Diantha Van de Vlekkert, Gouri Yogalingam

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

31

6. Accumulation of GM1-ganglioside in ER-mitochondrion microdomains elicits mitochondrial Ca2+ overload and neuronal apoptosis

Ida Annunziata, Renata Sano, Annette Patterson, Alessandra d’Azzo

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

32

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly

Anna Lehman, Andre Mattman, Don Sin, Peter Pare, Zheyuan Zong, Alessandra d'Azzo, Yvan Campos, Sandra Sirrs, Aleksander Hinek

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 668 KB

english, 2012

33

Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients

Anna Caciotti, Maria Alice Donati, Tiziana Bardelli, Alessandra d'Azzo, Graziella Massai, Luciana Luciani, Enrico Zammarchi, Amelia Morrone

Journal:

The American Journal of Pathology

Year:

2005

Language:

english

File:

PDF, 772 KB

english, 2005

34

Ozz-E3, A Muscle-Specific Ubiquitin Ligase, Regulates β-Catenin Degradation during Myogenesis

Tommaso Nastasi, Antonella Bongiovanni, Yvan Campos, Linda Mann, James N Toy, Jake Bostrom, Robbert Rottier, Christopher Hahn, Joan Weliky Conaway, A.John Harris, Alessandra d'Azzo

Journal:

Developmental Cell

Year:

2004

Language:

english

File:

PDF, 1.02 MB

english, 2004

35

Correction of combined β-galactosidase/neuraminidase deficiency in human fibroblasts

André Hoogeveen, Alessandra d'Azzo, Reinhard Brossmer, Hans Galjaard

Journal:

Biochemical and Biophysical Research Communications

Year:

1981

Language:

english

File:

PDF, 512 KB

english, 1981

36

Isolation and expression of full length cDNA clone of human airway smooth muscle mannose receptor (ASM-MR)

Zhao, Yuling, Bonten, Erik, D'Azzo, Alessandra, Lew, Betty

Journal:

Journal of Allergy and Clinical Immunology

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

37

The Gene for Human Peptidase A is on Band 18q23 and Shows Triplex and Uniplex Dosage Effect

C. Danesino, Alessandra D'Azzo, Paola Maraschio, M. Fraccaro

Journal:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 75 KB

english, 1978

38

Non-progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity

C. DANESINO, ALESSANDRA 'AZZO, M. ARICA, A. F. PODESTA, G. BELUFFI, ELENA BIANCHI

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 686 KB

english, 1984

39

Mitochondria-associated ER Membranes (MAMs) and Glycosphingolipid Enriched Microdomains (GEMs): Isolation from Mouse Brain

Annunziata, Ida, Patterson, Annette, d'Azzo, Alessandra

Journal:

Journal of Visualized Experiments

Year:

2013

Language:

english

File:

PDF, 154 KB

english, 2013

40

Identification and characterization of the nano-sized vesicles released by muscle cells

Romancino, Daniele P., Paterniti, Gaetano, Campos, Yvan, De Luca, Angela, Di Felice, Valentina, d’Azzo, Alessandra, Bongiovanni, Antonella

Journal:

Year:

2013

Language:

english

File:

PDF, 824 KB

english, 2013

41

Lysosomal multienzyme complex: pros and cons of working together

Bonten, Erik J., Annunziata, Ida, d’Azzo, Alessandra

Journal:

Cellular and Molecular Life Sciences

Year:

2014

Language:

english

File:

PDF, 759 KB

english, 2014

42

Expression of cDNA encoding the human “protective protein≓ associated with lysosomal β-galactosidase and neuraminidase: Homology to yeast proteases

Galjart, Niels J., Gillemans, Nynke, Harris, Alan, van der Horst, Gijsbertus T.J., Verheijen, Frans W., Galjaard, Hans, d'Azzo, Alessandra

Journal:

Year:

1988

Language:

english

File:

PDF, 1.41 MB

english, 1988

43

The gene encoding human protective protein (PPGB) is on chromosome 20

Wiegant, Joop, Galjart, Niels J., Raap, Anton K., d'Azzo, Alessandra

Journal:

Year:

1991

Language:

english

File:

PDF, 12.21 MB

english, 1991

44

Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis

Bonten, Erik J., Yogalingam, Gouri, Hu, Huimin, Gomero, Elida, van de Vlekkert, Diantha, d'Azzo, Alessandra

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2013

Language:

english

File:

PDF, 1.65 MB

english, 2013

45

The Atomic Model of the Human Protective Protein/Cathepsin A Suggests a Structural Basis for Galactosialidosis

Gabby Rudenko, Erik Bonten, Wim G. J. Hol and Alessandra d'Azzo

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.54 MB

english, 1998

46

Correction of Murine Galactosialidosis by Bone Marrow-Derived Macrophages Overexpressing Human Protective Protein/Cathepsin A under Control of the Colony-Stimulating Factor-1 Receptor Promoter

Christopher N. Hahn, Maria Del Pilar Martin, Xiao-Yan Zhou, Linda W. Mann and Alessandra d'Azzo

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 2.20 MB

english, 1998

47

The Arg482His Mutation in the β-Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village

Georgiou, Theodoros, Stylianidou, Goula, Anastasiadou, Violetta, Caciotti, Anna, Campos, Yvan, Zammarchi, Enrico, Morrone, Amelia, D'azzo, Alessandra, Drousiotou, Anthi

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 144 KB

english, 2005

48

Identification and characterization of Pl Alix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus

Romancino, Daniele P., Anello, Letizia, Morici, Giovanni, d'Azzo, Alessandra, Bongiovanni, Antonella, Di Bernardo, Maria

Journal:

Development, Growth & Differentiation

Year:

2013

Language:

english

File:

PDF, 496 KB

english, 2013

49

Identification of the Promoters for the Human and Murine Protective Protein/Cathepsin A Genes

ROTTIER, ROBBERT J., D'AZZO, ALESSANDRA

Journal:

DNA and Cell Biology

Year:

1997

Language:

english

File:

PDF, 19.19 MB

english, 1997

50

Organization of the Gene Encoding Human Lysosomal β-Galactosidase

MORREAU, HANS, BONTEN, ERIK, ZHOU, XIAO YAN, D'AZZO, ALESSANDRA

Journal:

DNA and Cell Biology

Year:

1991

Language:

english

File:

PDF, 5.62 MB

english, 1991