Scholars@Duke
Baodong Sun

Baodong Sun

Associate Professor in Pediatrics
Pediatrics, Medical Genetics
baodong.sun@duke.edu
Box 103856 Med Ctr, Durham, NC 27710
905 S. LaSalle Street, GSRB1 Room 4024, Durham, NC 27710
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Selected Publications

Gene therapy for glycogen storage diseases.

Journal Article J Inherit Metab Dis · January 2024 Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy ... Full text Link to item Cite

Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease.

Journal Article The journal of gene medicine · August 2023 BackgroundA major challenge to adeno-associated virus (AAV)-mediated gene therapy is the presence of anti-AAV capsid neutralizing antibodies (NAbs), which can block viral vector transduction even at very low titers. In the present study, we examin ... Full text Open Access Cite

Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice.

Journal Article JCI Insight · December 8, 2022 Glycogen debranching enzyme deficiency in glycogen storage disease type III (GSD III) results in excessive glycogen accumulation in multiple tissues, primarily the liver, heart, and skeletal muscle. We recently reported that an adeno-associated virus vecto ... Full text Open Access Link to item Cite

New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.

Journal Article J Clin Med · July 30, 2021 BACKGROUND: There are new emerging phenotypes in Pompe disease, and studies on smooth muscle pathology are limited. Gastrointestinal (GI) manifestations are poorly understood and underreported in Pompe disease. METHODS: To understand the extent and the eff ... Full text Open Access Link to item Cite

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model.

Journal Article Mol Genet Metab · July 2021 INTRODUCTION: Liver Glycogen Storage Disease IX is a rare metabolic disorder of glycogen metabolism caused by deficiency of the phosphorylase kinase enzyme (PhK). Variants in the PHKG2 gene, encoding the liver-specific catalytic γ2 subunit of PhK, are asso ... Full text Open Access Link to item Cite

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.

Journal Article Mol Ther Methods Clin Dev · September 11, 2020 Glycogen storage disease type III (GSD III) is an inherited disorder caused by a deficiency of glycogen debranching enzyme (GDE), which results in the accumulation of abnormal glycogen (limit dextrin) in the cytoplasm of liver, heart, and skeletal muscle c ... Full text Open Access Link to item Cite

Transcriptomic and Proteomic Analysis of Clear Cell Foci (CCF) in the Human Non-Cirrhotic Liver Identifies Several Differentially Expressed Genes and Proteins with Functions in Cancer Cell Biology and Glycogen Metabolism.

Journal Article Molecules · September 10, 2020 Clear cell foci (CCF) of the liver are considered to be pre-neoplastic lesions of hepatocellular adenomas and carcinomas. They are hallmarked by glycogen overload and activation of AKT (v-akt murine thymoma viral oncogene homolog)/mTOR (mammalian target of ... Full text Open Access Link to item Cite

Gene therapy for glycogen storage diseases.

Journal Article Hum Mol Genet · October 1, 2019 The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that ... Full text Open Access Link to item Cite

Gene therapy for glycogen storage diseases.

Journal Article J Inherit Metab Dis · January 2024 Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy ... Full text Link to item Cite

Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease.

Journal Article The journal of gene medicine · August 2023 BackgroundA major challenge to adeno-associated virus (AAV)-mediated gene therapy is the presence of anti-AAV capsid neutralizing antibodies (NAbs), which can block viral vector transduction even at very low titers. In the present study, we examin ... Full text Open Access Cite

Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice.

Journal Article JCI Insight · December 8, 2022 Glycogen debranching enzyme deficiency in glycogen storage disease type III (GSD III) results in excessive glycogen accumulation in multiple tissues, primarily the liver, heart, and skeletal muscle. We recently reported that an adeno-associated virus vecto ... Full text Open Access Link to item Cite

New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.

Journal Article J Clin Med · July 30, 2021 BACKGROUND: There are new emerging phenotypes in Pompe disease, and studies on smooth muscle pathology are limited. Gastrointestinal (GI) manifestations are poorly understood and underreported in Pompe disease. METHODS: To understand the extent and the eff ... Full text Open Access Link to item Cite

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model.

Journal Article Mol Genet Metab · July 2021 INTRODUCTION: Liver Glycogen Storage Disease IX is a rare metabolic disorder of glycogen metabolism caused by deficiency of the phosphorylase kinase enzyme (PhK). Variants in the PHKG2 gene, encoding the liver-specific catalytic γ2 subunit of PhK, are asso ... Full text Open Access Link to item Cite

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.

Journal Article Mol Ther Methods Clin Dev · September 11, 2020 Glycogen storage disease type III (GSD III) is an inherited disorder caused by a deficiency of glycogen debranching enzyme (GDE), which results in the accumulation of abnormal glycogen (limit dextrin) in the cytoplasm of liver, heart, and skeletal muscle c ... Full text Open Access Link to item Cite

Transcriptomic and Proteomic Analysis of Clear Cell Foci (CCF) in the Human Non-Cirrhotic Liver Identifies Several Differentially Expressed Genes and Proteins with Functions in Cancer Cell Biology and Glycogen Metabolism.

Journal Article Molecules · September 10, 2020 Clear cell foci (CCF) of the liver are considered to be pre-neoplastic lesions of hepatocellular adenomas and carcinomas. They are hallmarked by glycogen overload and activation of AKT (v-akt murine thymoma viral oncogene homolog)/mTOR (mammalian target of ... Full text Open Access Link to item Cite

Gene therapy for glycogen storage diseases.

Journal Article Hum Mol Genet · October 1, 2019 The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that ... Full text Open Access Link to item Cite

An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

Journal Article Ann Transl Med · July 2019 Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid-alpha glucosidase (GAA). Pathogenic variants in the GAA gene lead to excessive accumulation of lysosomal glycogen primarily in the cardiac, skeletal, and s ... Full text Open Access Link to item Cite

COMPARATIVE LIVER PATHOLOGY IN GLYCOGEN STORAGE DISEASE TYPE IIIA

Conference MOLECULAR GENETICS AND METABOLISM · July 1, 2019 Link to item Cite

Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.

Journal Article Mol Ther Methods Clin Dev · March 15, 2019 Pompe disease, a severe and often fatal neuromuscular disorder, is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The disease is characterized by the accumulation of excess glycogen in the heart, skeletal muscle, and CNS. Curr ... Full text Open Access Link to item Cite

COMPARATIVE LIVER PATHOLOGY IN GLYCOGEN STORAGE DISEASE TYPE IIIA

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2019 Link to item Cite

Hepatic Manifestations in Glycogen Storage Disease Type III

Journal Article Current Pathobiology Reports · December 1, 2018 Purpose of Review: Glycogen storage disease type III (GSD III) is an orphan disease that mainly affects the liver, heart, and skeletal muscles. It is caused by the deficiency of glycogen debranching enzyme (GDE), resulting in accumulation of glycogen (limi ... Full text Open Access Cite

Therapeutic Benefit of Autophagy Modulation in Pompe Disease.

Journal Article Mol Ther · July 5, 2018 The complexity of the pathogenic cascade in lysosomal storage disorders suggests that combination therapy will be needed to target various aspects of pathogenesis. The standard of care for Pompe disease (glycogen storage disease type II), a deficiency of l ... Full text Open Access Link to item Cite

A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease.

Journal Article Mol Genet Metab Rep · December 2017 Featured Publication A major obstacle to enzyme replacement therapy (ERT) with recombinant human acid-α-glucosidase (rhGAA) for Pompe disease is the development of high titers of anti-rhGAA antibodies in a subset of patients, which often leads to a loss of treatment efficacy. ... Full text Open Access Link to item Cite

Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.

Journal Article J Mol Med (Berl) · May 2017 Featured Publication UNLABELLED: Pompe disease is characterized by accumulation of both lysosomal and cytoplasmic glycogen primarily in skeletal and cardiac muscles. Mannose-6-phosphate receptor-mediated enzyme replacement therapy (ERT) with recombinant human acid α-glucosidas ... Full text Open Access Link to item Cite

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

Journal Article Hum Gene Ther · March 2017 Featured Publication Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. This study evaluate ... Full text Open Access Link to item Cite

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.

Journal Article Mol Genet Metab · 2017 OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, ... Full text Open Access Link to item Cite

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.

Journal Article Mol Genet Metab Rep · December 2016 Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 w ... Full text Open Access Link to item Cite

Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver.

Journal Article J Biol Chem · August 5, 2016 Featured Publication A small portion of cellular glycogen is transported to and degraded in lysosomes by acid α-glucosidase (GAA) in mammals, but it is unclear why and how glycogen is transported to the lysosomes. Stbd1 has recently been proposed to participate in glycogen tra ... Full text Open Access Link to item Cite

Natural Progression of Canine Glycogen Storage Disease Type IIIa.

Journal Article Comp Med · February 2016 Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, h ... Open Access Link to item Cite

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

Journal Article JIMD Rep · 2016 Featured Publication Deficiency of glycogen branching enzyme in glycogen storage disease type IV (GSD IV) results in accumulation of less-branched and poorly soluble polysaccharides (polyglucosan bodies) in multiple tissues. Standard enzymatic method, when used to quantify gly ... Full text Open Access Link to item Cite

Preclinical Development of New Therapy for Glycogen Storage Diseases.

Journal Article Curr Gene Ther · 2015 Featured Publication Glycogen storage disease (GSD) consists of more than 10 discrete conditions for which the biochemical and genetic bases have been determined, and new therapies have been under development for several of these conditions. Gene therapy research has generated ... Full text Open Access Link to item Cite

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

Journal Article J Mol Med (Berl) · June 2014 Featured Publication UNLABELLED: Recently, we reported that progression of liver fibrosis and skeletal myopathy caused by extensive accumulation of cytoplasmic glycogen at advanced age is the major feature of a canine model of glycogen storage disease (GSD) IIIa. Here, we aim ... Full text Open Access Link to item Cite

Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease.

Journal Article Mol Genet Metab Rep · 2014 Approximately 35-40% of patients with classic infantile Pompe disease treated with enzyme replacement therapy (ERT) develop high, sustained antibody titers against the therapeutic enzyme alglucosidase alfa, which abrogates the treatment efficacy. Induction ... Full text Open Access Link to item Cite

Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.

Journal Article Mol Genet Metab · July 2013 Previous studies strongly suggest that starch binding domain containing protein 1 (Stbd1) plays an important role in intracellular glycogen trafficking into lysosomes. We report here that Stbd1 expression is markedly increased in skeletal muscles but not i ... Full text Open Access Link to item Cite

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia.

Journal Article Mol Genet Metab · June 2013 Glycogen Storage Disease type Ia (GSD-Ia) in humans frequently causes delayed bone maturation, decrease in final adult height, and decreased growth velocity. This study evaluates the pathogenesis of growth failure and the effect of gene therapy on growth i ... Full text Open Access Link to item Cite

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

Journal Article Mol Genet Metab · February 2013 Featured Publication We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was est ... Full text Open Access Link to item Cite

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease.

Journal Article FASEB J · January 2013 Pompe disease has resisted enzyme replacement therapy with acid α-glucosidase (GAA), which has been attributed to inefficient cation-independent mannose-6-phosphate receptor (CI-MPR) mediated uptake. We evaluated β2-agonist drugs, which increased CI-MPR ex ... Full text Open Access Link to item Cite

Characterization of a canine model of glycogen storage disease type IIIa.

Journal Article Dis Model Mech · November 2012 Featured Publication Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disease caused by deficiency of glycogen debranching enzyme (GDE) in liver and muscle. The disorder is clinically heterogeneous and progressive, and there is no effective treatment. Pr ... Full text Open Access Link to item Cite

Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine pompe disease.

Journal Article Hum Gene Ther · May 2012 Featured Publication Pompe disease can be treated effectively, if immune tolerance to enzyme replacement therapy (ERT) with acid α-glucosidase (GAA) is present. An adeno-associated viral (AAV) vector carrying a liver-specific regulatory cassette to drive GAA expression (AAV-LS ... Full text Open Access Link to item Cite

A canine model of glycogen storage disease type III

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Rapamycin is a potential therapy for glycogen storage disease type III

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

Journal Article Mol Genet Metab · June 2011 Featured Publication Enzyme replacement therapy (ERT) with acid α-glucosidase has become available for Pompe disease; however, the response of skeletal muscle, as opposed to the heart, has been attenuated. The poor response of skeletal muscle has been attributed to the low abu ... Full text Open Access Link to item Cite

Hydrostatic isolated limb perfusion with adeno-associated virus vectors enhances correction of skeletal muscle in Pompe disease.

Journal Article Gene Ther · December 2010 Featured Publication Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the inherited deficiency of acid-α-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. We hypothesized that hydrostatic isolated limb p ... Full text Open Access Link to item Cite

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

Journal Article J Gene Med · November 2010 Featured Publication BACKGROUND: Lysosomal storage disorders such as Pompe disease can be more effectively treated, if immune tolerance to enzyme or gene replacement therapy can be achieved. Alternatively, immune responses against acid α-glucosidase (GAA) might be evaded in Po ... Full text Open Access Link to item Cite

Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.

Journal Article Mol Ther · February 2010 Featured Publication Infantile Pompe disease progresses to a lethal cardiomyopathy in absence of effective treatment. Enzyme-replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA) has been effective in most patients with Pompe disease, but efficacy was ... Full text Link to item Cite

Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression.

Journal Article J Gene Med · October 2009 Featured Publication BACKGROUND: Infantile-onset glycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) causes death early in childhood from cardiorespiratory failure in the absence of effective treatment, whereas late-onset Pompe disease causes a progressive ske ... Full text Link to item Cite

Activation of glycolysis and apoptosis in glycogen storage disease type Ia.

Journal Article Mol Genet Metab · August 2009 Featured Publication The deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, growth retardation, renal fai ... Full text Link to item Cite

Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy.

Journal Article Mol Ther · August 2008 Featured Publication Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid alpha-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. An adeno-associated virus 2/8 (AAV2/8) vector containi ... Full text Link to item Cite

AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia.

Journal Article Mol Ther · April 2008 Featured Publication Glycogen storage disease type Ia (GSD-Ia) profoundly impairs glucose release by the liver due to glucose-6-phosphatase (G6Pase) deficiency. An adeno-associated virus (AAV) containing a small human G6Pase transgene was pseudotyped with AAV8 (AAV2/8) to opti ... Full text Link to item Cite

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.

Journal Article Am J Hum Genet · November 2007 Featured Publication Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal enzyme acid alpha -glucosidase (GAA) (also called "acid maltase"), causes death in early childhood related to glycogen accumulation in striated muscle and an ... Full text Link to item Cite

Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia.

Journal Article Mol Ther · July 2007 Featured Publication Genetic deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, also known as von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia and growth r ... Full text Link to item Cite

Efficacy of gene therapy in canine glycogen storage disease type IA.

Journal Article JOURNAL OF VETERINARY INTERNAL MEDICINE · May 1, 2007 Link to item Cite

Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.

Journal Article Mol Ther · December 2006 Featured Publication Glycogen storage disease type II (GSD-II; Pompe disease; MIM 232300) is an inherited muscular dystrophy caused by deficiency in the activity of the lysosomal enzyme acid alpha-glucosidase (GAA). We hypothesized that chimeric GAA containing an alternative s ... Full text Link to item Cite

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.

Journal Article Gene Ther · September 2006 The deficiency of glucose-6-phosphatase (G6Pase) underlies life-threatening hypoglycemia and growth retardation in glycogen storage disease type Ia (GSD-Ia). An adeno-associated virus (AAV) vector encoding G6Pase was pseudotyped as AAV8 and administered to ... Full text Link to item Cite

Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.

Journal Article Mol Ther · November 2005 Featured Publication Glycogen storage disease type II (GSD-II; Pompe disease) is caused by a deficiency of acid alpha-glucosidase (GAA; acid maltase) and manifests as muscle weakness, hypertrophic cardiomyopathy, and respiratory failure. Adeno-associated virus vectors containi ... Full text Link to item Cite

Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter.

Journal Article Mol Ther · June 2005 Featured Publication Glycogen storage disease type II (Pompe disease) causes death in infancy from cardiorespiratory failure due to acid alpha-glucosidase (GAA; acid maltase) deficiency. An AAV2 vector pseudotyped as AAV6 (AAV2/6 vector) transiently expressed high-level human ... Full text Link to item Cite

Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.

Journal Article Mol Ther · January 2005 Featured Publication Glycogen storage disease type II (GSD-II; Pompe disease) causes death in infancy from cardiorespiratory failure. The underlying deficiency of acid alpha-glucosidase (GAA; acid maltase) can be corrected by liver-targeted gene therapy in GSD-II, if secretion ... Full text Link to item Cite

Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector.

Journal Article Mol Ther · April 2003 Featured Publication We have developed an improved method for packaging adeno-associated virus (AAV) vectors with a replication-defective adenovirus-AAV (Ad-AAV) hybrid virus. The AAV vector encoding human acid alpha-glucosidase (hGAA) was cloned into an E1, polymerase/preterm ... Full text Link to item Cite

Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector.

Journal Article Mol Ther · February 2003 Featured Publication We administered an adenovirus-adeno-associated virus (Ad-AAV) vector encoding human acid alpha-glucosidase (hGAA) to acid alpha-glucosidase-knockout (GAA-KO) mice on day 3 of life by gastrocnemius injection. In contrast to previous results for muscle-targe ... Full text Link to item Cite

Targeted cytotoxic somatostatin analogue AN-238 inhibits somatostatin receptor-positive experimental colon cancers independently of their p53 status.

Journal Article Cancer Res · February 1, 2002 The resistance of advanced colorectal cancers to therapy is often related to mutations in the p53 tumor suppressor gene. Because somatostatin (SRIF) receptors (ssts) are present in colorectal carcinomas, the treatment with targeted cytotoxic SRIF analogue ... Link to item Cite

Effective treatment of experimental DU-145 prostate cancers with targeted cytotoxic somatostatin analog AN-238.

Journal Article Int J Oncol · February 2002 We evaluated the effectiveness of targeted cytotoxic analog of somatostatin (SST) AN-238, consisting of 2-pyrrolinodoxorubicin (AN-201) linked covalently to SST octapeptide carrier RC-121 in DU-145 human androgen-independent prostate cancers xenografted in ... Link to item Cite

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

Journal Article Hum Mol Genet · December 1, 2001 ICF (immunodeficiency, centromeric region instability and facial anomalies) is a recessive disease caused by mutations in the DNA methyltransferase 3B gene (DNMT3B). Patients have immunodeficiency, chromosome 1 (Chr1) and Chr16 pericentromeric anomalies in ... Full text Link to item Cite

Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.

Journal Article Mol Genet Metab · November 2001 Featured Publication Facioscapulohumeral muscular dystrophy (FSHD) has an unusual molecular etiology. In a putatively heterochromatic subtelomeric region of each chromosome 4 homologue (4q35), unaffected individuals have 11 to about 95 tandem copies of a complex 3.3-kb repeat ... Full text Link to item Cite

ABL1 promoter methylation can exist independently of BCR-ABL transcription in chronic myeloid leukemia hematopoietic progenitors.

Journal Article Cancer Res · September 15, 2001 Featured Publication Formation of the hybrid BCR-ABL gene is responsible for >95% of chronic myeloid leukemia (CML). The alternative, downstream ABL promoter (Pa), which is usually retained in this chimeric oncogene, was reported to be methylated in many CML patients, but ther ... Link to item Cite

Targeting of cytotoxic somatostatin analog AN-238 to somatostatin receptor subtypes 5 and/or 3 in experimental pancreatic cancers.

Journal Article Clin Cancer Res · September 2001 PURPOSE: The expression of somatostatin receptors (SSTRs) allows the localization and treatment of some tumors with radiolabeled SST analogues. We investigated whether SSTRs on human pancreatic cancer lines xenografted into nude mice can be used for target ... Link to item Cite

In vivo inhibition of PC-3 human androgen-independent prostate cancer by a targeted cytotoxic bombesin analogue, AN-215.

Journal Article Int J Cancer · November 15, 2000 The effectiveness of chemotherapy targeted to bombesin (BN) receptors was evaluated in nude mice bearing PC-3 human androgen-independent prostate cancers. Cytotoxic BN analogue AN-215, consisting of 2-pyrrolinodoxorubicin (AN-201) linked to BN-like carrier ... Full text Link to item Cite

Human ovarian cancers express somatostatin receptors.

Journal Article J Clin Endocrinol Metab · October 2000 Featured Publication Characteristics of receptors for somatostatin (SST) analog RC-160 on 17 surgical specimens of human epithelial ovarian cancer and two human ovarian cancer lines were determined by ligand competition assays. The expression of mRNA for four SST receptor subt ... Full text Link to item Cite

Inhibition of growth of OV-1063 human epithelial ovarian cancers and c- jun and c- fos oncogene expression by bombesin antagonists.

Journal Article Br J Cancer · October 2000 Featured Publication Receptors for bombesin are present on human ovarian cancers and bombesin-like peptides could function as growth factors in this carcinoma. Therefore, we investigated the effects of bombesin/gastrin-releasing peptide (GRP) antagonists RC-3940-II and RC-3095 ... Full text Link to item Cite

High expression of somatostatin receptors and messenger ribonucleic acid for its receptor subtypes in organ-confined and locally advanced human prostate cancers.

Journal Article J Clin Endocrinol Metab · July 2000 To evaluate the potential application of somatostatin (SST) analogs as an adjuvant treatment for prostate cancer, we characterized the binding sites for SST octapeptide analogs on prostate cancers in patients treated with radical prostatectomy. The affinit ... Full text Link to item Cite

The presence of receptors for bombesin/GRP and mRNA for three receptor subtypes in human ovarian epithelial cancers.

Journal Article Regul Pept · June 30, 2000 Featured Publication Bombesin-like peptides can function as autocrine or paracrine growth factors and stimulate the growth of various cancers. The antagonists of bombesin/gastrin-releasing peptide (GRP) suppress the proliferation of diverse tumors including ovarian cancer by m ... Full text Link to item Cite

Inhibition of growth of MDA-MB-468 estrogen-independent human breast carcinoma by bombesin/gastrin-releasing peptide antagonists RC-3095 and RC-3940-II.

Journal Article Cancer · March 15, 2000 Featured Publication BACKGROUND: The growth of breast carcinoma is promoted by autocrine growth factors such as the bombesin (BN)-like peptides and epidermal growth factor (EGF). The stimulatory action of BN-like peptides can be blocked by the use of BN/gastrin-releasing pepti ... Full text Link to item Cite

Presence of receptors for bombesin/gastrin-releasing peptide and mRNA for three receptor subtypes in human prostate cancers.

Journal Article Prostate · March 1, 2000 Featured Publication BACKGROUND: Bombesin-like peptides can function as autocrine or paracrine growth factors and stimulate the growth of some cancer cells, including human prostate cancer. Three bombesin receptor subtypes, termed gastrin-releasing peptide receptor (GRPR), neu ... Full text Link to item Cite

Regression of U-87 MG human glioblastomas in nude mice after treatment with a cytotoxic somatostatin analog AN-238.

Journal Article Clin Cancer Res · February 2000 Receptors for somatostatin (SST) found on brain tumors could be used for targeting of chemotherapeutic agents. This study was conducted to investigate the effects of targeted cytotoxic SST analogue AN-238, consisting of 2-pyrrolinodoxorubicin (AN-201), a p ... Link to item Cite

Inhibition of growth of human malignant glioblastoma in nude mice by antagonists of bombesin/gastrin-releasing peptide.

Journal Article Oncogene · November 25, 1999 The effects of antagonists of bombesin/gastrin-releasing peptide (GRP) on the growth of human malignant glioblastoma cell line U-87MG xenografted into nude mice were evaluated. Nude mice bearing s.c. implanted U-87MG tumors were treated with bombesin/GRP a ... Full text Link to item Cite

Targeted cytotoxic analogue of bombesin/gastrin-releasing peptide inhibits the growth of H-69 human small-cell lung carcinoma in nude mice.

Journal Article Br J Cancer · November 1999 Recently, we developed a powerful cytotoxic analogue of bombesin AN-215, in which the bombesin-like carrier peptide Gln-Trp-Ala-Val-Gly-His-Leu-psi(CH2-NH)-Leu-NH2 (RC-3094) is conjugated to a potent derivative of doxorubicin, 2-pyrrolinodoxorubicin (AN-20 ... Full text Link to item Cite

Inhibition of growth of MX-1, MCF-7-MIII and MDA-MB-231 human breast cancer xenografts after administration of a targeted cytotoxic analog of somatostatin, AN-238.

Journal Article Int J Cancer · August 12, 1999 Since somatostatin (sst) receptors are expressed in a high percentage of human breast cancers, we studied the effects of a targeted cytotoxic somatostatin analog (AN-238) formed by linking the highly active doxorubicin (DOX) derivative 2-pyrrolino-DOX (AN- ... Full text Link to item Cite

Inhibition of PC-3 human androgen-independent prostate cancer and its metastases by cytotoxic somatostatin analogue AN-238.

Journal Article Cancer Res · April 15, 1999 We evaluated whether AN-238, the cytotoxic analogue of somatostatin (SST) consisting of the radical 2-pyrrolinodoxorubicin (AN-201) linked covalently to the SST octapeptide carrier RC-121 (D-Phe-Cys-Tyr-D-Trp-Lys-Val-Cys-Thr-NH2), could be used for targeti ... Link to item Cite