J N Buxbaum

Summary

Affiliation: The Scripps Research Institute
Country: USA

Publications

  1. pmc Animal models of human amyloidoses: are transgenic mice worth the time and trouble?
    Joel N Buxbaum
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    FEBS Lett 583:2663-73. 2009
  2. doi request reprint Transthyretin: the servant of many masters
    Joel N Buxbaum
    Molecular and Experimental Medicine Department, The Scripps Research Institute, La Jolla, CA 92037, USA
    Cell Mol Life Sci 66:3095-101. 2009
  3. pmc Why are some amyloidoses systemic? Does hepatic "chaperoning at a distance" prevent cardiac deposition in a transgenic model of human senile systemic (transthyretin) amyloidosis?
    Joel N Buxbaum
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    FASEB J 26:2283-93. 2012
  4. ncbi request reprint The genetics of the amyloidoses
    J N Buxbaum
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA
    Annu Rev Med 51:543-69. 2000
  5. pmc Transthyretin protects Alzheimer's mice from the behavioral and biochemical effects of Abeta toxicity
    Joel N Buxbaum
    Division of Rheumatology Research, W M Keck Autoimmune Disease Center, and Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 105:2681-6. 2008
  6. doi request reprint Serum transthyretin levels in senile systemic amyloidosis: effects of age, gender and ethnicity
    Joel Buxbaum
    Division of Rheumatology Research, WM Keck Autoimmune Disease Center, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA
    Amyloid 15:255-61. 2008
  7. pmc Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies
    Joel Buxbaum
    The Scripps Research Institute, La Jolla, CA 92037, USA
    Am Heart J 159:864-70. 2010
  8. doi request reprint Serum transthyretin levels in Swedish TTR V30M carriers
    Joel Buxbaum
    Department of Molecular and Experimental Medicine, WM Keck Autoimmune Disease Center, The Scripps Research Institute, University of Umea, Umea, Sweden
    Amyloid 17:83-5. 2010
  9. pmc Transthyretin and the brain re-visited: is neuronal synthesis of transthyretin protective in Alzheimer's disease?
    Xinyi Li
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Rd, MEM 230, La Jolla, CA 92037, USA
    Mol Neurodegener 6:79. 2011
  10. ncbi request reprint Treatment and prevention of the amyloidoses: can the lessons learned be applied to sporadic inclusion-body myositis?
    Joel N Buxbaum
    Department of Molecular and Experimental Medicine, The Keck Autoimmune Disease Center, The Scripps Research Institute, La Jolla, CA, USA
    Neurology 66:S110-3. 2006

Research Grants

Collaborators

Detail Information

Publications29

  1. pmc Animal models of human amyloidoses: are transgenic mice worth the time and trouble?
    Joel N Buxbaum
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    FEBS Lett 583:2663-73. 2009
    ..The current review describes the features of both transgenic and non-transgenic models and discusses issues that appear to be unresolved even when viewed in their organismal context...
  2. doi request reprint Transthyretin: the servant of many masters
    Joel N Buxbaum
    Molecular and Experimental Medicine Department, The Scripps Research Institute, La Jolla, CA 92037, USA
    Cell Mol Life Sci 66:3095-101. 2009
    ..It is possible that its capacity to bind many classes of compounds allows it to serve as an endogenous detoxifier of molecules with potential pathologic effects...
  3. pmc Why are some amyloidoses systemic? Does hepatic "chaperoning at a distance" prevent cardiac deposition in a transgenic model of human senile systemic (transthyretin) amyloidosis?
    Joel N Buxbaum
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    FASEB J 26:2283-93. 2012
    ..Hence systemic (cardiac) TTR deposition may be the direct result of the diminution in the distant chaperoning capacity of the liver related to age or long-standing exposure to misfolded TTR, or both...
  4. ncbi request reprint The genetics of the amyloidoses
    J N Buxbaum
    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA
    Annu Rev Med 51:543-69. 2000
    ..The genetic aspects of amyloid diseases produced by the deposition of four different proteins have been investigated in detail and provide insights into the particular diseases and amyloidogenesis in general...
  5. pmc Transthyretin protects Alzheimer's mice from the behavioral and biochemical effects of Abeta toxicity
    Joel N Buxbaum
    Division of Rheumatology Research, W M Keck Autoimmune Disease Center, and Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 105:2681-6. 2008
    ..The interaction may represent a unique normal host defense mechanism, enhancement of which could be therapeutically useful...
  6. doi request reprint Serum transthyretin levels in senile systemic amyloidosis: effects of age, gender and ethnicity
    Joel Buxbaum
    Division of Rheumatology Research, WM Keck Autoimmune Disease Center, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA
    Amyloid 15:255-61. 2008
    ..e. over 60. Thus, as in carriers of other TTR mutations the serum TTR level is lower than normal, despite having a much later appearance of clinical disease...
  7. pmc Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies
    Joel Buxbaum
    The Scripps Research Institute, La Jolla, CA 92037, USA
    Am Heart J 159:864-70. 2010
    ..We wished to determine the allele frequency and its clinical penetrance in community-dwelling African Americans...
  8. doi request reprint Serum transthyretin levels in Swedish TTR V30M carriers
    Joel Buxbaum
    Department of Molecular and Experimental Medicine, WM Keck Autoimmune Disease Center, The Scripps Research Institute, University of Umea, Umea, Sweden
    Amyloid 17:83-5. 2010
    ..Thus, Swedish TTR V30M carriers have the same reduction in serum TTR as do other ethnic groups carrying the same or other TTR mutations...
  9. pmc Transthyretin and the brain re-visited: is neuronal synthesis of transthyretin protective in Alzheimer's disease?
    Xinyi Li
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Rd, MEM 230, La Jolla, CA 92037, USA
    Mol Neurodegener 6:79. 2011
    ..We have proposed a model which is consistent with most of the published data and current notions of AD pathogenesis and can serve as a hypothesis which can be tested...
  10. ncbi request reprint Treatment and prevention of the amyloidoses: can the lessons learned be applied to sporadic inclusion-body myositis?
    Joel N Buxbaum
    Department of Molecular and Experimental Medicine, The Keck Autoimmune Disease Center, The Scripps Research Institute, La Jolla, CA, USA
    Neurology 66:S110-3. 2006
    ..Current approaches to the treatment of other forms of amyloidosis are discussed in the context of their applicability, or lack thereof, to sIBM...
  11. ncbi request reprint Diseases of protein conformation: what do in vitro experiments tell us about in vivo diseases?
    Joel N Buxbaum
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, MEM 230, La Jolla, CA 92037, USA
    Trends Biochem Sci 28:585-92. 2003
    ..Despite potentially shared thermodynamic and kinetic processes involving the target molecules, the biology of these two subsets differs significantly...
  12. ncbi request reprint Abnormal immunoglobulin synthesis in monoclonal immunoglobulin light chain and light and heavy chain deposition disease
    J N Buxbaum
    Research Service New York V A Medical Center, Departments of Medicine and Pathology and Kaplan Cancer Center, New York University School of Medicine, New York City, NY, USA
    Amyloid 8:84-93. 2001
    ..In either case the fragments may be more susceptible to tissue deposition, with subsequent organ compromise, than intact Ig chains...
  13. ncbi request reprint The systemic amyloidoses
    Joel N Buxbaum
    Department of Rheumatology, Division of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Curr Opin Rheumatol 16:67-75. 2004
    ..During the next decade, the value of these therapies, and others, suggested by studies on the basic properties of cells and proteins, will become clear...
  14. ncbi request reprint The pathogenesis of transthyretin tissue deposition: lessons from transgenic mice
    Joel Buxbaum
    Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Amyloid 10:2-6. 2003
    ..They thus represent experimental systems for exploring factors and generally approachable in intact humans and reasonable screening tools for the effectiveness of various therapeutic approaches...
  15. ncbi request reprint Human-murine transthyretin heterotetramers are kinetically stable and non-amyloidogenic. A lesson in the generation of transgenic models of diseases involving oligomeric proteins
    Natalia Reixach
    W M Keck Autoimmune Disease Center, Division of Rheumatology Research, Molecular and Experimental Medicine Department, The Scripps Research Institute, La Jolla, CA 92037, USA
    J Biol Chem 283:2098-107. 2008
    ..The incorporation of mouse subunits into tetramers otherwise composed of human amyloid-prone transthyretin subunits imposes kinetic stability, preventing dissociation and subsequent amyloidogenesis...
  16. pmc Is older colder or colder older? The association of age with body temperature in 18,630 individuals
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    J Gerontol A Biol Sci Med Sci 66:487-92. 2011
    ..The results are consistent with low body temperature as a biomarker for longevity. Prospective studies are needed to confirm whether this represents a survival advantage associated with lifetime low steady state temperature...
  17. ncbi request reprint In vivo stabilization of mutant human transthyretin in transgenic mice
    Clement E Tagoe
    Department of Medicine, New York University School of Medicine, New York, NY, USA
    Amyloid 14:227-36. 2007
    ....
  18. pmc Tissue damage in the amyloidoses: Transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture
    Natalia Reixach
    Division of Rheumatology Research, Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 101:2817-22. 2004
    ..The studies are consistent with a model in which the misfolded TTR monomer rapidly aggregates to form transient low molecular mass assemblies (<100 kDa) that are highly cytotoxic in tissue culture...
  19. ncbi request reprint Amyloidogenesis is neither accelerated nor enhanced by injections of preformed fibrils in mice transgenic for wild-type human transthyretin: the question of infectivity
    Clement E Tagoe
    New York University School of Medicine, New York City, New York, USA
    Amyloid 11:21-6. 2004
    ....
  20. ncbi request reprint Cell based screening of inhibitors of transthyretin aggregation
    Natalia Reixach
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Biochem Biophys Res Commun 348:889-97. 2006
    ....
  21. ncbi request reprint Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease
    Miguel L Soares
    Department of Molecular and Experimental Medicine, Division of Rheumatology Research and the WM Keck Autoimmune Disease Center, The Scripps Research Institute, La Jolla, CA 92037, USA
    Hum Mol Genet 14:543-53. 2005
    ..Thus, although the TTR V30M mutation is required for the disease in Portuguese patients, different genetic factors may govern the age of onset, as well as the occurrence of anticipation...
  22. ncbi request reprint Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden
    Miguel Luz Soares
    Division of Rheumatology Research and the W M Keck Autoimmune Disease Center, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA
    Eur J Hum Genet 12:225-37. 2004
    ..During the course of these studies, we also encountered the first instance in which the previously described intragenic haplotype III may be associated with V30M FAP in the Portuguese population...
  23. ncbi request reprint An adaptable standard for protein export from the endoplasmic reticulum
    R Luke Wiseman
    Department of Chemistry, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Cell 131:809-21. 2007
    ..Instead, a network view provides insight into the basis for cellular diversity, disease origins, and protein homeostasis, and predicts strategies for restoring protein homeostasis in protein-misfolding diseases...
  24. ncbi request reprint VIth International Symposium on Familial Amyloidotic Polyneuropathy and other Transthyretin Disorders and the Vth International Workshop on Liver Transplantation in Familial Amyloidotic Polyneuropathy 24-26 August 2005 La Jolla, CA, USA
    Joel N Buxbaum
    Department of Molecular and Experimental Medicine, Division of Research Rheumatology, The Scripps Research Institute, La Jolla, CA, USA
    Amyloid 13:111-3. 2006
  25. ncbi request reprint Oxidation inhibits amyloid fibril formation of transthyretin
    Simin D Maleknia
    School of Biological, Earth and Environmental Sciences, University of New South Wales, Sydney, NSW, Australia
    FEBS J 273:5400-6. 2006
    ..These inhibiting effects of oxidation on fibril growth suggest that domains neighboring the methionine residues are critical in stabilizing the tetrameric and folded monomer structures...
  26. ncbi request reprint Mice transgenic for human TTR have the same frequency of renal TTR deposition whether maintained in conventional or specific pathogen free environments
    Clement E Tagoe
    New York University, Departments of Medicine and Pathology, 550 First Avenue, New York, NY 10016, USA
    Amyloid 10:262-6. 2003
    ....
  27. ncbi request reprint A primer of amyloid nomenclature
    Per Westermark
    Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden
    Amyloid 14:179-83. 2007
    ..All amyloid types are today preferably named by their major fibril protein. This makes a simple and rational nomenclature for the increasing number of amyloid disorders known in humans and animals...
  28. ncbi request reprint Amyloid fibril protein nomenclature -- 2002
    Per Westermark
    Amyloid 9:197-200. 2002
  29. ncbi request reprint Amyloid: toward terminology clarification. Report from the Nomenclature Committee of the International Society of Amyloidosis
    Per Westermark
    Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden
    Amyloid 12:1-4. 2005
    ..Synthetic fibrils with amyloid properties are best named 'amyloid-like'. With increasing knowledge, however, the borders between different protein aggregates tend to become less sharp...

Research Grants22

  1. Aging and the Tissue Response to Misfolded Proteins
    Joel N Buxbaum; Fiscal Year: 2010
    ..At the completion of these studies, we should have a more complete understanding of the way in which intact higher organisms respond to potentially pathogenic misfolded proteins and how these processes are affected in aging. ..
  2. Aging and the Tissue Response to Misfolded Proteins
    Joel Buxbaum; Fiscal Year: 2009
    ..At the completion of these studies, we should have a more complete understanding of the way in which intact higher organisms respond to potentially pathogenic misfolded proteins and how these processes are affected in aging. ..
  3. TRANSTHYRETIN DEPOSITION IN AGING TRANSGENIC MICE
    Joel Buxbaum; Fiscal Year: 2004
    ..Investigation of the model may allow us to identify and study such mechanisms which, in turn, may provide insight into aging and offer potential therapeutic targets in more than one form of human amyloidosis. ..
  4. Cardiac Amyloidosis in Aging African Americans
    Joel Buxbaum; Fiscal Year: 2005
    ....
  5. 6th International Symposium on FAP Disorders and 5th...
    Joel Buxbaum; Fiscal Year: 2006
    ..abstract_text> ..
  6. Cardiac Amyloidosis in Aging African American
    Joel N Buxbaum; Fiscal Year: 2010
    ....