J C Fyfe

Summary

Affiliation: Michigan State University
Country: USA

Publications

  1. ncbi A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy
    John C Fyfe
    Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    Neurogenetics 12:223-32. 2011
  2. ncbi Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia
    John C Fyfe
    Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan 48824, USA
    J Comp Neurol 518:3771-84. 2010
  3. ncbi Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII
    J C Fyfe
    College of Veterinary Medicine, Michigan State University, East Lansing, Michigan, USA
    Genomics 58:121-8. 1999
  4. ncbi A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats
    John C Fyfe
    Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    Mol Genet Metab 90:383-92. 2007
  5. ncbi Molecular diagnosis of inherited neuromuscular disease
    John C Fyfe
    Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, USA
    Vet Clin North Am Small Anim Pract 32:287-300, viii-ix. 2002
  6. ncbi An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival
    John C Fyfe
    Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan 48824, USA
    Genome Res 16:1084-90. 2006
  7. ncbi Congenital hypothyroidism with goiter in toy fox terriers
    John C Fyfe
    Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    J Vet Intern Med 17:50-7. 2003
  8. ncbi Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells
    J Ray
    James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, New York 14853, USA
    Genomics 48:248-53. 1998
  9. ncbi Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q
    Qianchuan He
    Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan 48824, USA
    Mamm Genome 14:758-64. 2003
  10. ncbi Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption
    D Xu
    Department of Microbiology, College of Veterinary Medicine, and MSU DOE Plant Research Laboratory, Michigan State University, East Lansing, MI 48824, USA
    Blood 94:3604-6. 1999

Research Grants

  1. MOLECULAR PATHOGENESIS OF FELINE SPINAL MUSCULAR ATROPHY
    JOHN FYFE; Fiscal Year: 2002
  2. Molecular Mechanism of Polarized Cubilin Expression
    JOHN FYFE; Fiscal Year: 2004

Collaborators

Detail Information

Publications16

  1. ncbi A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy
    John C Fyfe
    Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    Neurogenetics 12:223-32. 2011
    ..The canine disorder extends the range of MFN2-associated phenotypes and suggests MFN2 as a candidate gene for rare cases of human FNAD...
  2. ncbi Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia
    John C Fyfe
    Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan 48824, USA
    J Comp Neurol 518:3771-84. 2010
    ..Thus, fetal-onset neuroaxonal dystrophy in dogs, a species with well-developed genome mapping resources, provides a unique opportunity for additional disease gene discovery and understanding of this pathology...
  3. ncbi Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII
    J C Fyfe
    College of Veterinary Medicine, Michigan State University, East Lansing, Michigan, USA
    Genomics 58:121-8. 1999
    ..Carriers identified in this manner produced affected kittens in prospective breedings, and a feline MPS VII breeding colony has been established...
  4. ncbi A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats
    John C Fyfe
    Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    Mol Genet Metab 90:383-92. 2007
    ..The molecular characterization of feline GSD IV will enhance further studies of GSD IV pathophysiology and development of novel therapies in this unique animal model...
  5. ncbi Molecular diagnosis of inherited neuromuscular disease
    John C Fyfe
    Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, USA
    Vet Clin North Am Small Anim Pract 32:287-300, viii-ix. 2002
    ..New test development depends on investigations to determine disease genes and the disease causing mutations. A general approach to molecular diagnosis of inherited disorders is discussed...
  6. ncbi An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival
    John C Fyfe
    Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan 48824, USA
    Genome Res 16:1084-90. 2006
    ..Nonetheless, a LIX1-associated etiology in feline SMA implicates a previously undetected mechanism of motor neuron maintenance and mandates consideration of LIX1 as a candidate gene in human SMA when SMN1 mutations are not found...
  7. ncbi Congenital hypothyroidism with goiter in toy fox terriers
    John C Fyfe
    Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    J Vet Intern Med 17:50-7. 2003
    ..A nonsense mutation in the thyroid peroxidase gene of affected dogs was discovered and demonstrated to segregate with the disease. A DNA-based carrier test was developed and currently is used by TFT breeders to prevent this disorder...
  8. ncbi Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells
    J Ray
    James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, New York 14853, USA
    Genomics 48:248-53. 1998
    ..A retroviral vector expressing the full-length canine beta-glucuronidase cDNA corrected the deficiency in MPS VII cells...
  9. ncbi Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q
    Qianchuan He
    Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan 48824, USA
    Mamm Genome 14:758-64. 2003
    ..Thus, these comparative-mapping data provide evidence that canine I-GS is a homologue of one form of the human disease and will provide a useful system for understanding the molecular mechanisms underlying the disease in humans...
  10. ncbi Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption
    D Xu
    Department of Microbiology, College of Veterinary Medicine, and MSU DOE Plant Research Laboratory, Michigan State University, East Lansing, MI 48824, USA
    Blood 94:3604-6. 1999
    ....
  11. ncbi Amylopectinosis in fetal and neonatal Quarter Horses
    J A Render
    Veterinary Medical Center, College of Veterinary Medicine, Michigan State University, East Lansing 48824, USA
    Vet Pathol 36:157-60. 1999
    ..We speculate that a severe inherited loss of glycogen brancher enzyme activity may be responsible for these findings. The relation of amylopectinosis to the death of the foals is unknown...
  12. ncbi Inherited motor neuron disease in domestic cats: a model of spinal muscular atrophy
    Qianchuan He
    Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    Pediatr Res 57:324-30. 2005
    ..A breeding colony has been established for further investigation of this naturally occurring large-animal model of inherited motor neuron disease...
  13. ncbi Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo
    Qianchuan He
    Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI, USA
    Blood 106:1447-53. 2005
    ..Characterization of canine AMN mutations that cause I-GS establishes the canine model as an ortholog of the human disorder well suited to studies of AMN function and coevolution with cubilin...
  14. ncbi Glycogen storage disease type IIIa in curly-coated retrievers
    Brittany L Gregory
    Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing 48824, USA
    J Vet Intern Med 21:40-6. 2007
    ..The glycogen storage diseases are a category of such disorders that are typed by enzyme analysis, but deoxyribonucleic acid (DNA) based carrier tests are needed for definitive, noninvasive diagnosis and to prevent at-risk matings...
  15. ncbi The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless
    John C Fyfe
    Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, USA
    Blood 103:1573-9. 2004
    ..Therefore, mutations affecting either of the 2 proteins may abrogate function of the cubam complex and cause IG-S...
  16. ncbi Megalin and cubilin are endocytic receptors involved in renal clearance of hemoglobin
    Jakub Gburek
    Department of Biochemistry, Faculty of Pharmacy, Wroclaw Medical University, Wroclaw, Poland
    J Am Soc Nephrol 13:423-30. 2002
    ..The findings may prove to be essential for further research on the pathophysiology of hemoglobinuric acute renal failure and proteinuria-associated tubulointerstitial nephritis...

Research Grants2

  1. MOLECULAR PATHOGENESIS OF FELINE SPINAL MUSCULAR ATROPHY
    JOHN FYFE; Fiscal Year: 2002
    ..Initial candidate genes will be those implicated in human SMA, but otherwise a comparative positional-candidate gene approach will be taken. ..
  2. Molecular Mechanism of Polarized Cubilin Expression
    JOHN FYFE; Fiscal Year: 2004
    ..Results of these efforts are expected to open a window onto a new aspect of nutrient absorption and membrane receptor biology. ..