Nina Raben

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle
    Shoichi Takikita
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 5:e15239. 2010
  2. pmc Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten
    Nina Raben
    NIAMS, NIH, Bethesda, MD 20892 1820, USA
    Am J Med Genet C Semin Med Genet 160:13-21. 2012
  3. pmc Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Autophagy 6:1078-89. 2010
  4. pmc Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Mol Genet Metab 101:324-31. 2010
  5. pmc Role of autophagy in the pathogenesis of Pompe disease
    N Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Acta Myol 26:45-8. 2007
  6. pmc Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease
    Tokiko Fukuda
    Arthritis and Rheumatism Branch, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Ther 14:831-9. 2006
  7. pmc Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches
    Shoichi Takikita
    Arthritis and Rheumatism Branch, National Institutes of Arthritis and Musculoskeletal and Skin Diseases, NIH, Building 50 Room 1345, 50 South Drive, Bethesda, MD 20892, USA
    Mol Genet Metab 96:208-17. 2009
  8. ncbi request reprint Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice
    Nina Raben
    Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, 9000 Rockville Pike, Clinical Center Bld 10 9N244, Bethesda, MD 20892, USA
    Transgenic Res 12:171-8. 2003
  9. pmc When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, NIAMS, NIH, Bethesda, MD 20892 1820, USA
    Autophagy 5:111-3. 2009
  10. ncbi request reprint Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
    Nina Raben
    Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, 9000 Rockville Pike, Building 10 9N244, Bethesda, MD 20892, USA
    Mol Ther 11:48-56. 2005

Collaborators

Detail Information

Publications45

  1. pmc Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle
    Shoichi Takikita
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 5:e15239. 2010
    ..These findings may have implications for therapy of lysosomal diseases and other disorders with altered autophagy...
  2. pmc Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten
    Nina Raben
    NIAMS, NIH, Bethesda, MD 20892 1820, USA
    Am J Med Genet C Semin Med Genet 160:13-21. 2012
    ..In this review, we will focus on these recent data, and comment on the not so recent observations pointing to the involvement of autophagy in skeletal muscle damage in Pompe disease...
  3. pmc Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Autophagy 6:1078-89. 2010
    ..The suppression of autophagy, which has proven successful in the Pompe model, is a novel therapeutic approach that may be useful in other diseases with disturbed autophagy...
  4. pmc Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Mol Genet Metab 101:324-31. 2010
    ..In most fibers, the two pathologies did not seem to coexist. These data point to the possibility of differences in the pathogenesis of Pompe disease in infants and adults...
  5. pmc Role of autophagy in the pathogenesis of Pompe disease
    N Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Acta Myol 26:45-8. 2007
    ..These findings may explain why ERT often falls short of reversing the disease process, and point to new avenues for the development of pharmacological intervention...
  6. pmc Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease
    Tokiko Fukuda
    Arthritis and Rheumatism Branch, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Ther 14:831-9. 2006
    ..These findings may explain why ERT often falls short of reversing the disease process and point toward new avenues for the development of pharmacological intervention...
  7. pmc Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches
    Shoichi Takikita
    Arthritis and Rheumatism Branch, National Institutes of Arthritis and Musculoskeletal and Skin Diseases, NIH, Building 50 Room 1345, 50 South Drive, Bethesda, MD 20892, USA
    Mol Genet Metab 96:208-17. 2009
    ....
  8. ncbi request reprint Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice
    Nina Raben
    Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, 9000 Rockville Pike, Clinical Center Bld 10 9N244, Bethesda, MD 20892, USA
    Transgenic Res 12:171-8. 2003
    ..The study suggests that the induction of tolerance in animal models of protein deficiencies could be achieved by restricting the expression of a gene of interest to a particular, carefully chosen tissue...
  9. pmc When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, NIAMS, NIH, Bethesda, MD 20892 1820, USA
    Autophagy 5:111-3. 2009
    ..Also, by generating muscle-specific autophagy-deficient wild-type mice, we were able to analyze the role of autophagy in healthy skeletal muscle...
  10. ncbi request reprint Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
    Nina Raben
    Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, 9000 Rockville Pike, Building 10 9N244, Bethesda, MD 20892, USA
    Mol Ther 11:48-56. 2005
    ..Low abundance of proteins involved in endocytosis and trafficking of lysosomal enzymes combined with increased autophagy in type II fibers may explain the resistance to therapy...
  11. pmc Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Hum Mol Genet 17:3897-908. 2008
    ..As a result, autophagic substrates, including potentially toxic aggregate-prone ubiquitinated proteins, accumulate in Pompe myofibers and may cause profound muscle damage...
  12. ncbi request reprint Autophagy and lysosomes in Pompe disease
    Tokiko Fukuda
    Arthritis and Rheumatism Branch, Office of Science and Technology, NIAMS, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
    Autophagy 2:318-20. 2006
    ....
  13. ncbi request reprint Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
    Tokiko Fukuda
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Ann Neurol 59:700-8. 2006
    ....
  14. ncbi request reprint Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
    Autophagy 3:546-52. 2007
    ..Clearing or preventing autophagic buildup seems, therefore, a necessary target of Pompe disease therapy...
  15. pmc Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease
    Sengen Xu
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bldg 50, Rm 1531, 9000 Rockville Pike, Bethesda, MD 20892, USA
    J Appl Physiol (1985) 108:1383-8. 2010
    ..The results are consistent with a disruption of actin and myosin interactions in the knockout muscles, demonstrating that impaired myofibrillar function contributes to weakness in the diseased muscle fibers...
  16. pmc Monitoring autophagy in lysosomal storage disorders
    Nina Raben
    The Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, Bethesda, Maryland, USA
    Methods Enzymol 453:417-49. 2009
    ..In this chapter, we will describe the lysosomal storage diseases in which autophagy has been explored, and present the approaches used to evaluate this essential cellular pathway...
  17. pmc The values and limits of an in vitro model of Pompe disease: the best laid schemes o' mice an' men
    Shoichi Takikita
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA
    Autophagy 5:729-31. 2009
    ..The cultured myotubes, therefore, appear to be a useful model for studying the mechanisms involved in glycogen accumulation in Pompe disease and to test substrate deprivation approaches...
  18. ncbi request reprint Acid alpha-glucosidase deficiency (Pompe disease)
    Tokiko Fukuda
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Clinical Center, Bethesda, MD 20892, USA
    Curr Neurol Neurosci Rep 7:71-7. 2007
    ..The recombinant enzyme alglucosidase alfa is the first drug ever approved for this devastating disorder. This review discusses the benefits and the shortcomings of the new therapy...
  19. ncbi request reprint Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Ther 6:601-8. 2002
    ..The results demonstrate that complete reversal of pathology in skeletal muscle or long-affected heart muscle will require much more enzyme than previously expected or a different approach...
  20. ncbi request reprint Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Mol Med 2:145-66. 2002
    ..We will also highlight some emerging questions following the introduction of enzyme replacement therapy...
  21. ncbi request reprint Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene
    N Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 10 9N244, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Neuromuscul Disord 10:283-91. 2000
    ..Females were more affected than males irrespective of genetic background. As in humans with glycogen storage disease type II, therefore, other genetic loci affect the phenotypic expression of a single gene mutation...
  22. ncbi request reprint Surprises of genetic engineering: a possible model of polyglucosan body disease
    N Raben
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Neurology 56:1739-45. 2001
    ..In an attempt to accelerate the course of the disease in the knockouts, the authors increased the level of cytoplasmic glycogen by overexpressing glycogen synthase (GSase) or GlutI glucose transporter...
  23. ncbi request reprint Enzyme replacement therapy in the mouse model of Pompe disease
    N Raben
    Arthritis and Rheumatism Branch, National Institutes of Health, US HHS NIH NIAMS, 9000 Rockville Pike, Bld 10 9N244, Bethesda, MD 20892, USA
    Mol Genet Metab 80:159-69. 2003
    ..These studies suggest that enzyme replacement therapy, although at much higher doses than in other lysosomal diseases, has the potential to reverse cardiac pathology and to reduce the glycogen level in skeletal muscle...
  24. pmc Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence
    E Ralston
    Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Building 50, Room 1535, Bethesda, MD 20892 8023, USA
    J Struct Biol 162:500-8. 2008
    ..The combination of SHG and 2PEF should be useful in the analysis and diagnosis of a wide range of skeletal muscle pathologies...
  25. ncbi request reprint Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy
    N Raben
    Arthritis and Rheumatism Branch, NIAMS, 9000 Rockville Pike, Clinical Center Building 10 9N244, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 10:2039-47. 2001
    ..Furthermore, using tetracycline regulation, we somatically induced human GAA in the knockout mice, and demonstrated that the skeletal and cardiac muscle pathology was completely reversible if the treatment was begun early...
  26. ncbi request reprint Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II
    N Raben
    Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 273:19086-92. 1998
    ..5 months of age) despite indistinguishable biochemical and pathological changes. The genetic background of the mouse strains appears to contribute to the differences among the three models...
  27. pmc Autophagy in skeletal muscle: implications for Pompe disease
    L Shea
    The Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Int J Clin Pharmacol Ther 47:S42-7. 2009
    ....
  28. pmc Quantitative evaluation of skeletal muscle defects in second harmonic generation images
    Wenhua Liu
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, Light Imaging Section, National Institutes of Health, Bethesda, MD 20892, USA
    J Biomed Opt 18:26005. 2013
    ..We named the software MARS (muscle assessment and rating scores). It is executed automatically and is highly sensitive even to subtle defects. We propose MARS as a powerful and unbiased tool to assess muscle health...
  29. ncbi request reprint Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis
    Jae Jin Chae
    Inflammatory Biology Section, Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
    Mol Cell 11:591-604. 2003
    ..These data support a critical role for pyrin in the innate immune response, possibly by acting on ASC, and suggest a biologic basis for the selection of hypomorphic pyrin variants in man...
  30. ncbi request reprint The human acid alpha-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway
    Bo Yan
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
    J Biol Chem 277:29760-4. 2002
    ..Constitutively over-expressed Hes-1 and Notch-1 repressed GAA gene expression. Therefore, our data establish that the human GAA gene, encoding a lysosomal enzyme, is a downstream target of the Notch-1/Hes-1 signaling pathway...
  31. ncbi request reprint Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene
    B Yan
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892-1820, USA
    Hum Genet 109:186-90. 2001
    ..The data may be helpful for designing therapy to increase the level of enzyme, particularly when, as in most adults with the disease, there is reduced production of structurally normal enzyme...
  32. ncbi request reprint Transcriptional regulation of the human acid alpha-glucosidase gene. Identification of a repressor element and its transcription factors Hes-1 and YY1
    B Yan
    Arthritis and Rheumatism Branch, NIAMS, National Institutes of Health, Bethesda, Maryland 20892-1820, USA
    J Biol Chem 276:1789-93. 2001
    ..The data should be helpful in understanding the expression and regulation of the human acid alpha-glucosidase gene as well as other lysosomal enzyme genes...
  33. pmc Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II
    C F Boerkoel
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 56:887-97. 1995
    ..The low level of active enzyme (12% of normal) generated from the leakage of normally spliced mRNA sustained the patient to adult life...
  34. ncbi request reprint Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by pol
    F Barbetti
    Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Endocrinol Metab 71:164-9. 1990
    ..This observation is consistent with the hypothesis that the dinucleotide sequence CpG, the first two nucleotides in the arginine (CGT) codon, is a "hot spot" for mutations...
  35. pmc Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions
    R C Nichols
    Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 59:59-65. 1996
    ..Both mutations are predicted to result in premature termination of translation. Some of the transcripts generated from the intron 16 mutated allele also contain intron 10 sequence unspliced...
  36. ncbi request reprint Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis
    F Barbetti
    Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland 20892
    Diabetes 41:408-15. 1992
    ..Two mutant alleles were identified in this patient. The allele inherited from the father had a mutation substituting alanine for Val-28; in the allele inherited from the mother, arginine was substituted for Gly-366...
  37. ncbi request reprint Mutations in muscle phosphofructokinase gene
    N Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mutat 6:1-6. 1995
    ..Molecular diagnosis is now feasible for Ashkenazi patients who share two common mutations in the gene; the more frequent is an exon 5 splicing defect, which accounts for approximately 68% of mutant alleles in this population...
  38. pmc Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency
    J B Sherman
    Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892
    Am J Hum Genet 55:305-13. 1994
    ..Because PFK deficiency in Ashkenazi Jews is caused by a limited number of mutations, screening genomic DNA from peripheral blood for the described mutations in this population should enable rapid diagnosis without muscle biopsy...
  39. pmc Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency
    N Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892
    Am J Hum Genet 56:131-41. 1995
    ..The mutants expressed in yeast generate functional enzyme with modest changes in thermal stability. The advantages and limitations of the yeast system for expression of human mutant PFKs are discussed...
  40. ncbi request reprint A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease)
    N Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland
    J Biol Chem 268:4963-7. 1993
    ..Both mutations lead to inframe deletions, but of different parts of the protein. The differences between the two aberrant proteins may account for clinical differences between our patients and the Japanese patient...
  41. ncbi request reprint Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online
    N Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mutat 13:83-4. 1999
    ..The splicing defect is shared by two unrelated patients and it is linked to intragenic polymorphic sites identical to those found in patients bearing the common R854X mutation...
  42. ncbi request reprint Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy
    E Martin-Touaux
    Département de génétique, Developpement et Pathologie Moleculaire, Institut Cochin, INSERM U567, Paris, France
    Hum Mol Genet 11:1637-45. 2002
    ..We thus demonstrate for the first time that muscle can be considered as a safe and easily accessible organ for GSD II gene therapy...
  43. pmc Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease
    A J McVie-Wylie
    Biologics Research and Development, Genzyme Corporation, One Mountain Road, Framingham, MA 01701, USA
    Mol Genet Metab 94:448-55. 2008
    ....
  44. ncbi request reprint Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line
    F Martiniuk
    Department of Medicine, Pulmonary Division and Critical Care Medicine, New York University Medical Center, New Bellevue 6N5, 550 First Avenue, New York, New York, 10016, USA
    Biochem Biophys Res Commun 276:917-23. 2000
    ..More importantly, after multiple infusions, hind, and fore-limb muscle weakness was reversed. This rhGAA would be ideal for enzyme replacement therapy in GSD II...
  45. ncbi request reprint Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease
    D F Pauly
    Peter Belfer Cardiac Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Hum Gene Ther 12:527-38. 2001
    ..Taken together, these data show that the mannose 6-phosphate receptor pathway provides a useful strategy for cell-to-cell distribution of virally derived recombinant GAA...