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1

Insertional Mutagenesis of the Mouse Acid Ceramidase Gene Leads to Early Embryonic Lethality in Homozygotes and Progressive Lipid Storage Disease in Heterozygotes

Chi-Ming Li, Jae-Ho Park, Calogera M. Simonaro, Xingxuan He, Ronald E. Gordon, Adriana-Haimovitz Friedman, Desiree Ehleiter, Francois Paris, Katia Manova, Stefan Hepbiloikler, Zvi Fuks, Konrad Sandhof

Journal:

Year:

2002

Language:

english

File:

PDF, 1.55 MB

english, 2002

2

The Demographics and Distribution of Mutations Associated with Acid Sphingomyelinase-Deficient (Types A & B) Niemann-Pick Disease

Edward Schuchman, Calogera Simonaro, Melissa Wasserstein, Robert Desnick

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

3

The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations

Calogera M. Simonaro, Robert J. Desnick, Margaret M. McGovern, Melissa P. Wasserstein, Edward H. Schuchman

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 243 KB

english, 2002

4

Oral glycotoxins are a modifiable cause of dementia and the metabolic syndrome in mice and humans

Cai, Weijing, Uribarri, Jaime, Zhu, Li, Chen, Xue, Swamy, Shobha, Zhao, Zhengshan, Grosjean, Fabrizio, Simonaro, Calogera, Kuchel, George A., Schnaider-Beeri, Michal, Woodward, Mark, Striker, Gary E.,

Journal:

Proceedings of the National Academy of Sciences

Year:

2014

Language:

english

File:

PDF, 1.08 MB

english, 2014

5

Endoscopic management of a case of ‘complete septate uterus with unilateral haematometra’

Perino, Antonio, Chianchiano, Nicola, Simonaro, Carmelina, Cittadini, Ettore

Journal:

Human Reproduction

Year:

1995

Language:

english

File:

PDF, 400 KB

english, 1995

6

Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child

M. Fotoulaki, E. H. Schuchman, C. M. Simonaro, P. Augoustides-Savvopoulou, H. Michelakakis, P. Panagopoulou, G. Varlamis, S. Nousia-Arvanitakis

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 138 KB

english, 2007

7

Articular Chondrocytes from Animals with a Dermatan Sulfate Storage Disease Undergo a High Rate of Apoptosis and Release Nitric Oxide and Inflammatory Cytokines: A Possible Mechanism Underlying Degenerative Joint Disease in the Mucopolysaccharidoses

Simonaro, Calogera M., Haskins, Mark E., Schuchman, Edward H.

Journal:

Laboratory Investigation

Year:

2001

Language:

english

File:

PDF, 1.10 MB

english, 2001

8

Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation

Simonaro, C M, Haskins, M E, Abkowitz, J L, Brooks, D A, Hopwood, J J, Zhang, J, Schuchman, E H

Journal:

Year:

1999

Language:

english

File:

PDF, 477 KB

english, 1999

9

121 CARTILAGE AND BONE DISEASE IN RATS WITH MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY DISEASE): A NEW, NATURALLY OCCURRING ANIMAL MODEL OF ARTHRITIS

E.H. Schuchman, Y. Ge, E. Eliyahu, K. Jepsen, C. Simonaro

Journal:

Osteoarthritis and Cartilage

Year:

2011

Language:

english

File:

PDF, 665 KB

english, 2011

10

234 ACID CERAMIDASE IMPROVES THE CHONDROGENIC PHENOTYPE OF PRIMARY AND MESENCHYMAL STEM CELL-DERIVED CHONDROCYTES: IMPLICATIONS FOR CARTILAGE REPAIR

C.M. Simonaro, S. Sachot, E. Eliyahu, H. Sun, E. Schuchman

Journal:

Osteoarthritis and Cartilage

Year:

2011

Language:

english

File:

PDF, 148 KB

english, 2011

11

Mucopolysaccharidosis Type VI in Rats: Isolation of cDNAs Encoding Arylsulfatase B, Chromosomal Localization of the Gene, and Identification of the Mutation

TETSUO KUNIEDA, CALOGERA M. SIMONARO, MIDORI YOSHIDA, HIROSHI IKADAI, GÖRAN LEVAN, ROBERT J. DESNICK, EDWARD H. SCHUCHMAN

Journal:

Year:

1995

Language:

english

File:

PDF, 150 KB

english, 1995

12

Insertional Mutagenesis of the Mouse Acid Ceramidase Gene Leads to Early Embryonic Lethality in Homozygotes and Progressive Lipid Storage Disease in Heterozygotes

Chi-Ming Li, Jae-Ho Park, Calogera M. Simonaro, Xingxuan He, Ronald E. Gordon, Adriana-Haimovitz Friedman, Desiree Ehleiter, Francois Paris, Katia Manova, Stefan Hepbildikler, Zvi Fuks, Konrad Sandhof

Journal:

Year:

2002

File:

PDF, 25 KB

2002

13

Identification and Characterization of the Molecular Lesion Causing Mucopolysaccharidosis Type I in Cats

Xingxuan He, Chi-Ming Li, Calogera M. Simonaro, Qi Wan, Mark E. Haskins, Robert J. Desnick, Edward H. Schuchman

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

14

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI

Calogera Maria Simonaro, Edward Howard Schuchman

Journal:

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

Year:

1995

Language:

english

File:

PDF, 448 KB

english, 1995

15

Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

Melissa P. Wasserstein, Alan Aron, Scott E. Brodie, Calogera Simonaro, Robert J. Desnick, Margaret M. McGovern

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 107 KB

english, 2006

16

101 Molecular mechanisms underlying joint and bone disease in the mucopolysaccharidoses (MPS)

Calogera Simonaro, M. D’Angelo, M.E. Haskins, E.H. Schuchman

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

17

91. Mechanism of glycosaminoglycan-mediated bone and joint disease in the mucopolysaccharidoses

Calogera Simonaro, Mark Haskins, Edward Schuchman

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

18

133. Novel biomarkers and therapies for the mucopolysaccharidoses

Calogera Simonaro, Yi Ge, Edward Schuchman

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

19

Large Animal Models of Lysosomal Storage Diseases: Lessons on the Limits of Gene/Enzyme Therapy

Mark Haskins, Meg Sleeper, Gus Aguirre, Steven U. Walkley, Van Knox, Charles Vite, Richard Steet, Brittney Gurda, Jim Wilson, Alberto Auricchio, Lachlan Smith, Lilla Simonaro, Katherine Ponder

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

20

A Novel Use for Acid Ceramidase in Cell-Based Therapies For Degenerative Joint Diseases, Including the Mucopolysaccharidoses

Edward Schuchman, Sylvain Sachot, Mark Haskins, Calogera Simonaro

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

21

Novel Therapies for the Mucopolysaccharidoses that Target Inflammation & Impact Skeletal Disease

Calogera Simonaro, Edward Schuchman

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

22

Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease

Calogera M. Simonaro, Jae-Ho Park, Efrat Eliyahu, Nataly Shtraizent, Margaret M. McGovern, Edward H. Schuchman

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.99 MB

english, 2006

23

Mechanism of Glycosaminoglycan-Mediated Bone and Joint Disease: Implications for the Mucopolysaccharidoses and Other Connective Tissue Diseases

Calogera M. Simonaro, Marina D'Angelo, Xingxuan He, Efrat Eliyahu, Nataly Shtraizent, Mark E. Haskins, Edward H. Schuchman

Journal:

The American Journal of Pathology

Year:

2008

Language:

english

File:

PDF, 965 KB

english, 2008

24

Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

Lai, Alon, Simonaro, Calogera M., Schuchman, Edward H., Ge, Yi, Laudier, Damien M., Iatridis, James C.

Journal:

Journal of Orthopaedic Research

Year:

2013

Language:

english

File:

PDF, 2.40 MB

english, 2013

25

Enhanced chondrocyte apoptosis leads to abnormal cartilage in rats and cats with glycosaminoglycan storage diseases

CM Simonaro, ME Haskins, EH Schuchman

Journal:

Arthritis Research & Therapy

Year:

2001

Language:

english

File:

PDF, 217 KB

english, 2001

26

Acid ceramidase: One enzyme with multiple therapeutic uses

Schuchman, Edward, He, Xingxuan, DeAngelis, Victor, Simonaro, Calogera

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 80 KB

english, 2013

27

Comparison of subcutaneous and oral pentosan polysulfate treatment in a rat model of mucopolysaccharidosis type VI

Simonaro, Calogera M., Frohbergh, Michael, Ge, Yi, Meng, Fanli, DeAngelis, Victor A., He, Xingxuan, Schuchman, Edward H.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

28

Novel biomarkers for the mucopolysaccharidoses

Simonaro, Calogera, Ge, Yi, He, Xingxuan, DeAngelis, Victor, Haskins, Mark, Dickson, Patricia, Schuchman, Edward

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 77 KB

english, 2013

29

Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I

Wang, Raymond Y., Aminian, Afshin, McEntee, Michael F., Kan, Shih-Hsin, Simonaro, Calogera M., Lamanna, William C., Lawrence, Roger, Ellinwood, N. Matthew, Guerra, Catalina, Le, Steven Q., Dickson, Pa

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 1.01 MB

english, 2014

30

A63: Treatment of Arthritis in Animal Models of the Mucopolysaccharidoses Using a Novel Anti-Inflammatory Drug, Pentosan Polysulfate

Simonaro, Calogera, Frohbergh, Michael, Ge, Yi, Meng, Fanli, Schuchman, Edward

Journal:

Arthritis & Rheumatology

Year:

2014

Language:

english

File:

PDF, 27 KB

english, 2014

31

Involvement of the Toll-like receptor 4 pathway and use of TNF- antagonists for treatment of the mucopolysaccharidoses

Simonaro, C. M., Ge, Y., Eliyahu, E., He, X., Jepsen, K. J., Schuchman, E. H.

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.20 MB

english, 2010

32

Acid ceramidase deficiency: Clinical implications of an emerging phenotypic spectrum and potential therapies

Solyom, Alexander, Simonaro, Calogera M., He, Xingxuan, Schuchman, Edward H.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 46 KB

english, 2015

33

Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation

Sólyom, Alexander, Karabul, Nesrin, Hügle, Boris, Simonaro, Calogera, Schuchman, Edward

Journal:

Pediatric Rheumatology

Year:

2014

Language:

english

File:

PDF, 268 KB

english, 2014

34

Pentosan polysulfate: New mechanistic insights and treatment of the mucopolysaccharidoses

Simonaro, Calogera M., Tomatsu, Shunji, Ge, Yi, Meng, Fanli, Frohbergh, Michael, Haskins, Mark E., Ruane, Therese, Wang, Raymond Y., Vera, Moin, Solyom, Alexander, Schuchman, Edward H.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 243 KB

english, 2015

35

Acid Ceramidase Treatment Enhances the Outcome of Autologous Chondrocyte Implantation in a Rat Osteochondral Defect Model

Frohbergh, Michael E., Guevara, Johana M., Grelsamer, Ronald P., Barbe, Mary F., He, Xingxuan, Simonaro, Calogera M., Schuchman, Edward H.

Journal:

Osteoarthritis and Cartilage

Year:

2015

Language:

english

File:

PDF, 10.24 MB

english, 2015

36

Joint and Bone Disease in Mucopolysaccharidoses VI and VII: Identification of New Therapeutic Targets and BioMarkers Using Animal Models

Simonaro, Calogera M, D'Angelo, Marina, Haskins, Mark E, Schuchman, Edward H

Journal:

Pediatric Research

Year:

2005

Language:

english

File:

PDF, 1.14 MB

english, 2005

37

SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients

Solyom, A., Ehlert, K., Hügle, B., Magnusson, B., Grigelioniene, G., Guelbert, N., Gardner-Medwin, J., Tanpaiboon, P., Jung, L., Puri, R., DiRocco, M., Mitchell, J., Beck, M., Simonaro, C., Schuchman,

Journal:

Annals of the Rheumatic Diseases

Year:

2015

Language:

english

File:

PDF, 91 KB

english, 2015

38

Safety study of sodium pentosan polysulfate for adult patients with mucopolysaccharidosis type II

Orii, Kenji, Tomatsu, Shunji, Suzuki, Yasuyuki, Solyom, Alexander, Radsak, Markus, Schuchman, Edward H., Simonaro, Calogera M., Orii, Tadao, Fukao, Toshiyuki

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

39

Cartilage and bone disease in a mouse model of Farber lipogranulomatosis and response to treatment

Schuchman, Edward H., Frohbergh, Michael, Guevara, Johana M., He, Xingxuan, DeAngelis, Victor A., Simonaro, Calogera M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

40

Pentosan polysulfate and neuroinflammation in mice with mucopolysaccharidosis type IIIA mice

Simonaro, Calogera M., Guo, Ningning, Schuchman, Edward H.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

41

Treatment with pentosan polysulphate in patients with mucopolysaccharidosis type I: Results from an open label, randomized, monocentric phase 2 study

Hennermann, Julia B., Goekce, Seyfullah, Solyom, Alexander, Mengel, Eugen, Schuchman, Edward H., Simonaro, Calogera M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

42

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study

Hennermann, Julia B., Gökce, Seyfullah, Solyom, Alexander, Mengel, Eugen, Schuchman, Edward H., Simonaro, Calogera M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 995 KB

english, 2016

43

Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice

He, Xingxuan, Dworski, Shaalee, Zhu, Changzhi, DeAngelis, Victor, Solyom, Alex, Medin, Jeffrey A., Simonaro, Calogera M., Schuchman, Edward H.

Journal:

Year:

2017

Language:

english

File:

PDF, 6.33 MB

english, 2017

44

Evaluation of pentosan polysulfate in mucopolysaccharidosis type IIIA mice

Simonaro, Calogera M., Guo, Ningning, DeAngelis, Victor, Tomatsu, Shunji, Schuchman, Edward H.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

45

Proof-of-concept studies underlying enzyme replacement therapy for acid ceramidase deficiency

Schuchman, Edward H., He, Xingxuan, Dworski, Shaalee, Zhu, Changzhi, DeAngelis, Victor, Solyom, Alex, Levade, Thierry, Medin, Jeffrey A., Simonaro, Calogera M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

46

WITHDRAWN: 59 Molecular mechanisms underlying joint and bone disease in the mucopolysaccharidoses (MPS)

Simonaro, Calogera, Schuchman, E.H., D Angelo, M., Haskins, M.E.

Journal:

Molecular Genetics and Metabolism

Year:

2007

File:

PDF, 10 KB

2007

47

PPS beyond MPS: Efficacy in Fabry and Gaucher in vitro studies

Crivaro, Andrea N., Bondar, Constanza, Ormazabal, Maximiliano, Mucci, Juan M., Schuchman, Edward, Simonaro, Calogera, Rozenfeld, Paula

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 54 KB

english, 2018

48

THU0361 Bone and Joint Disease in Mucopolysaccharidosis Involves Tlr4-Related Inflammation and Improves upon Treatment with Pentosan Polysulphate

Simonaro, C., Frohbergh, M., Ge, Y., Meng, F., He, X., DeAngelis, V., Karabul, N., Sόlyom, A., Schuchman, E.

Journal:

Annals of the Rheumatic Diseases

Year:

2014

Language:

english

File:

PDF, 88 KB

english, 2014

49

Acid Ceramidase Maintains the Chondrogenic Phenotype of Expanded Primary Chondrocytes and Improves the Chondrogenic Differentiation of Bone Marrow-Derived Mesenchymal Stem Cells

Simonaro, Calogera M., Sachot, Sylvain, Ge, Yi, He, Xingxuan, DeAngelis, Victor A., Eliyahu, Efrat, Leong, Daniel J., Sun, Hui B., Mason, Jeffrey B., Haskins, Mark E., Richardson, Dean W., Schuchman,

Journal:

Year:

2013

Language:

english

File:

PDF, 15.09 MB

english, 2013

50

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

Simonaro, Calogera M., Tomatsu, Shunji, Sikora, Tracy, Kubaski, Francyne, Frohbergh, Michael, Guevara, Johana M., Wang, Raymond Y., Vera, Moin, Kang, Jennifer L., Smith, Lachlan J., Schuchman, Edward

Journal:

Year:

2016

Language:

english

File:

PDF, 7.36 MB

english, 2016