B. Thurberg

发表

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

B. Thurberg, C. Maloney, C. Vaccaro, 2006, Laboratory Investigation.

Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency:the utility of animal models of disease in the toxicological evaluation of potential therapeutics.

Kenneth P. Karey, W. Chuang, J. McPherson, 2015, Molecular genetics and metabolism.

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

Y. Chien, W. Hwu, F. Tsai, 2009, Pediatrics.

Conjugation of Mannose 6-Phosphate-containing Oligosaccharides to Acid α-Glucosidase Improves the Clearance of Glycogen in Pompe Mice*

Qun Zhou, N. Raben, R. Mattaliano, 2004, Journal of Biological Chemistry.

Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice.

N. Raben, R. Mattaliano, Seng H. Cheng, 2005, The Biochemical journal.

Cardiac Microvascular Pathology in Fabry Disease: Evaluation of Endomyocardial Biopsies Before and After Enzyme Replacement Therapy

R. Mitchell, J. Fallon, T. Aretz, 2009, Circulation.

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

A. Fellgiebel, R. Hopkin, B. Bénichou, 2015, PloS one.

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

J. Murillo, B. Thurberg, P. Kishnani, 2011, Molecular genetics and metabolism.

Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease

Der-Sheng Han, Y. Chien, W. Hwu, 2013, PloS one.

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

K. Nagashima, P. Meikle, D. de Jong, 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascend

B. Byrne, A. Pestronk, P. van Damme, 2019, Neuromuscular Disorders.

Enzyme replacement therapy in the mouse model of Pompe disease.

N. Raben, R. Mattaliano, K. Nagaraju, 2003, Molecular genetics and metabolism.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

A. Pestronk, C. Bjartmar, R. Carlier, 2016, Molecular genetics and metabolism.

Adjunctive β2‐agonists reverse neuromuscular involvement in murine Pompe disease

M. Tarnopolsky, Songtao Li, D. Bali, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.

Songtao Li, D. Bali, D. Koeberl, 2012, Molecular genetics and metabolism.

Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases

W. Brondyk, B. Thurberg, John T. Lydon, 2011, Journal of Inherited Metabolic Disease.

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.

T. Schiano, R. Lachmann, G. Diaz, 2019, Molecular genetics and metabolism.

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

T. Schiano, B. Thurberg, M. Wasserstein, 2016, The American journal of surgical pathology.

Exercise Capacity of Mice Genetically Lacking Muscle Glycogen Synthase

A. Depaoli-Roach, P. Roach, B. Thurberg, 2005, Journal of Biological Chemistry.

Mice with elevated muscle glycogen stores do not have improved exercise performance.

A. Depaoli-Roach, P. Roach, B. Thurberg, 2005, Biochemical and biophysical research communications.

Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

B. Bénichou, A. Tylki-Szymańska, B. Thurberg, 2009, Genetics in Medicine.

Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.

M. O'Callaghan, N. Raben, J. McPherson, 2008, Molecular genetics and metabolism.

Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies.

S. Granter, R. Phelps, R. Gordon, 2004, The Journal of investigative dermatology.

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.

C. Hollak, R. Lachmann, T. Ikezoe, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α -GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

G. Herman, T. Voit, A. Amalfitano, 2009 .

Early pathologic changes and responses to treatment in patients with later-onset Pompe disease.

Y. Chien, W. Hwu, Pei-Hsin Huang, 2012, Pediatric neurology.

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

D. Millington, D. Bali, B. Thurberg, 2009, Genetics in Medicine.

Natural Progression of Canine Glycogen Storage Disease Type IIIa.

J. Fyfe, B. Thurberg, P. Kishnani, 2016, Comparative medicine.

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.

R. Colvin, R. Desnick, S. Dikman, 2002, Kidney international.

Antibody formation and mannose‐6‐phosphate receptor expression impact the efficacy of muscle‐specific transgene expression in murine Pompe disease

A. Kemper, Songtao Li, D. Koeberl, 2010, The journal of gene medicine.

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

B. Thurberg, 2020, Molecular genetics and metabolism reports.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

A. Fellgiebel, R. Hopkin, B. Bénichou, 2019, Molecular genetics and metabolism.

Gastrointestinal involvement in Fabry disease. So important, yet often neglected

D. Warnock, J. Politei, A. Schenone, 2016, Clinical genetics.

α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease.

R. Desnick, K. Ashe, J. Marshall, 2015, The American journal of pathology.

Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

T. Schiano, S. Richards, B. Thurberg, 2012, The American journal of surgical pathology.

Optimization of a Histopathological Biomarker for Sphingomyelin Accumulation in Acid Sphingomyelinase Deficiency

T. Taksir, B. Thurberg, C. Maloney, 2012, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature.

J. Politei, B. Thurberg, 2012, Human pathology.

Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease.

Kenneth P. Karey, J. McPherson, Seng H. Cheng, 2009, Molecular Genetics and Metabolism.

Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?

J. Politei, A. Schenone, B. Thurberg, 2017, Molecular genetics and metabolism reports.

Characterization of a canine model of glycogen storage disease type IIIa

J. Fyfe, D. Koeberl, B. Thurberg, 2012, Disease Models & Mechanisms.

Temporal Neuropathologic and Behavioral Phenotype of 6neo/6neo Pompe Disease Mice

R. Sidman, T. Taksir, L. Shihabuddin, 2008, Journal of neuropathology and experimental neurology.

Optimized Preservation of CNS Morphology for the Identification of Glycogen in the Pompe Mouse Model

T. Taksir, L. Shihabuddin, B. Thurberg, 2007, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Recombinant human acid α-glucosidase

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

Prominent vacuolation of the eyelid levator muscle in an early‐treated child with infantile‐onset Pompe disease

Y. Chien, W. Hwu, F. Tsai, 2014, Muscle & nerve.

Adjunctive (cid:1) 2-agonists reverse neuromuscular involvement in murine Pompe disease

M. Tarnopolsky, Songtao Li, D. Bali, 2012 .

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

D. Bali, Sang-oh Han, D. Koeberl, 2019, Molecular genetics and metabolism.

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

Y. Chien, W. Hwu, F. Tsai, 2011, The Journal of pediatrics.

Correction of glycogen storage disease type III with rapamycin in a canine model

J. Fyfe, B. Thurberg, P. Kishnani, 2014, Journal of Molecular Medicine.

Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues.

P. DasMahapatra, Hiren K. Patel, B. Thurberg, 2022, Molecular genetics and metabolism.

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

Tongue

B. Thurberg, S. Ryan, D. Bangari, 2018, The Laboratory Mouse.

Precipitating Chromogen Optimization for the Localization of CD68 in Melanin-Impregnated Metastatic Murine Lung Tumors

K. Munroe, B. Thurberg, Jay Harper, 2010 .

Femur

B. Thurberg, S. Ryan, D. Bangari, 2019, Definitions.

CD52 over-expression affects rituximab-associated complement-mediated cytotoxicity but not antibody-dependent cellular cytotoxicity: Preclinical evidence that targeting CD52 with alemtuzumab may reverse acquired resistance to rituximab in non-Hodgkin lymphoma

M. Czuczman, P. Wallace, G. Deeb, 2007, Leukemia & lymphoma.

Endosialin Protein Expression and Therapeutic Target Potential in Human Solid Tumors: Sarcoma versus Carcinoma

B. Teicher, N. Honma, J. Mascarello, 2008, Clinical Cancer Research.

Meningioma in Fabry disease: Three case reports and a review of the literature on malignancies in patients with metabolic lipid disorders

J. Politei, K. Bénistan, B. Thurberg, 2016 .

Materials and Methods

B. Thurberg, S. Ryan, D. Bangari, 2019, The Laboratory Mouse.

Polypoid dysplasia in Barrett's esophagus: a clinicopathologic, immunohistochemical, and molecular study of five cases.

P. Duray, R. Odze, B. Thurberg, 1999, Human pathology.

Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors.

S. Orkin, T. Collins, J. Molkentin, 2001, Genes & development.

Investigative pathology: leading the post-genomic revolution

Massimo Loda, M. Loda, C. Fletcher, 2012, Laboratory Investigation.

Lipoprotein Association of Human Apolipoprotein E/A-I Chimeras

G. Getz, B. Thurberg, C. Reardon, 1996, The Journal of Biological Chemistry.

Homeostatic role of transforming growth factor-beta in the oral cavity and esophagus of mice and its expression by mast cells in these tissues.

S. Ledbetter, M. Ruzek, R. Garman, 2009, The American journal of pathology.

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

E. Shamiyeh, G. Diaz, H. Soran, 2015, Molecular genetics and metabolism.

Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.

L. Hobson‐Webb, B. Thurberg, P. Kishnani, 2012, Molecular genetics and metabolism.

The nuclear factor-kappa B/inhibitor of kappa B autoregulatory system and atherosclerosis.

T. Collins, B. Thurberg, T. Collins, 1998, Current opinion in lipidology.

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria

B. Thurberg, Xiaoyou Ying, Robert Fogle, 2021, Scientific Reports.

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency)

T. Schiano, W. Duvall, S. Richards, 2015, Genetics in Medicine.

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

B. Thurberg, P. Kishnani, H. Yi, 2017, Human gene therapy.

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

J. Politei, B. Thurberg, F. Perretta, 2016, Molecular genetics and metabolism reports.

Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.

P. DasMahapatra, R. Hopkin, W. Wilcox, 2022, Molecular genetics and metabolism.

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

E. Richard, P. Roach, N. Raben, 2010, Human molecular genetics.

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

G. Herman, R. C. Rogers, T. Voit, 2006, The Journal of pediatrics.

High-resolution Light Microscopy (HRLM) and Digital Analysis of Pompe Disease Pathology

B. Thurberg, C. Vaccaro, Colleen M. Lynch, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Correction of glycogen storage disease type III with rapamycin in a canine model

J. Fyfe, B. Thurberg, P. Kishnani, 2014, Journal of Molecular Medicine.

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

D. Corcoran, W. Kraus, N. Bursac, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease.

B. Thurberg, M. O'callaghan, M. Hawes, 2007, Molecular genetics and metabolism.

Quadriceps Muscle

B. Thurberg, S. Ryan, D. Bangari, 2019, The Laboratory Mouse.

Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?

J. Politei, A. Schenone, B. Thurberg, 2017, Molecular genetics and metabolism reports.

Spine.

B. Thurberg, S. Ryan, D. Bangari, 2019, Spine.

Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease

W. Hwu, M. Halberthal, B. Thurberg, 2007 .

The Laboratory Mouse

B. Thurberg, S. Ryan, D. Bangari, 2019 .

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

W. Kraus, Yuan-Tsong Chen, D. Bali, 2013, Molecular genetics and metabolism.

Early pathologic changes and responses to treatment in patients with later-onset Pompe disease.

Y. Chien, W. Hwu, Pei-Hsin Huang, 2012, Pediatric neurology.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

A. Pestronk, C. Bjartmar, R. Carlier, 2016, Molecular genetics and metabolism.

Use of direct fluorescence labeling and confocal microscopy to determine the biodistribution of two protein therapeutics, Cerezyme® and Ceredase®

H. Hughes, Scott Vanpatten, T. Edmunds, 2009, Microscopy research and technique.

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

B. Thurberg, J. Hennermann, P. Mabe, 2023, Orphanet Journal of Rare Diseases.