Paul J Isackson

Summary

Affiliation: University at Buffalo
Country: USA

Publications

  1. doi request reprint Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, University at Buffalo, Buffalo, New York, USA
    Muscle Nerve 47:224-9. 2013
  2. pmc Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS
    Paul J Isackson
    Department of Pediatrics, University at Buffalo, Buffalo, New York 14203, USA
    Muscle Nerve 44:531-8. 2011
  3. ncbi request reprint Genetic risk factors associated with lipid-lowering drug-induced myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, 936 Delaware Avenue, Buffalo, New York 14209, USA
    Muscle Nerve 34:153-62. 2006
  4. doi request reprint CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA
    Mol Genet Metab 94:422-7. 2008
  5. ncbi request reprint Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 89:323-31. 2006
  6. pmc Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA
    Mol Genet Metab 104:167-73. 2011
  7. ncbi request reprint A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease
    Paul J Isackson
    Department of Pediatrics, Division of Genetics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 85:239-42. 2005
  8. ncbi request reprint Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene
    Paul J Isackson
    Department of Pediatrics, Division of Genetics, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 86:250-6. 2005

Detail Information

Publications8

  1. doi request reprint Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, University at Buffalo, Buffalo, New York, USA
    Muscle Nerve 47:224-9. 2013
    ..All patients had skeletal muscle CPTII enzyme activity levels indicative of heterozygosity for CPT2 mutations, however sequence analysis identified no pathogenic mutations within the CPT2 gene...
  2. pmc Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS
    Paul J Isackson
    Department of Pediatrics, University at Buffalo, Buffalo, New York 14203, USA
    Muscle Nerve 44:531-8. 2011
    ..Of the nearly 38 million people in the USA who receive statin therapy, 0.1-0.5% experience severe or life-threatening myopathic side effects...
  3. ncbi request reprint Genetic risk factors associated with lipid-lowering drug-induced myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, 936 Delaware Avenue, Buffalo, New York 14209, USA
    Muscle Nerve 34:153-62. 2006
    ..The effect of statins on energy metabolism combined with a genetic susceptibility to triggering of muscle symptoms may account for myopathic outcomes in certain high-risk groups...
  4. doi request reprint CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA
    Mol Genet Metab 94:422-7. 2008
    ..In addition, based on currently available structural, biochemical and clinical data, we have classified all 64 known disease-causing mutations into groups with different predicted phenotypes depending on their CPT2 allelic counterparts...
  5. ncbi request reprint Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 89:323-31. 2006
    ..The implications of these mutations are described in light of recent advances in our understanding of the molecular structure of members of the carnitine acyltransferase family...
  6. pmc Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA
    Mol Genet Metab 104:167-73. 2011
    ....
  7. ncbi request reprint A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease
    Paul J Isackson
    Department of Pediatrics, Division of Genetics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 85:239-42. 2005
    ..Each of three children manifested symptoms of McArdle disease and was either a compound heterozygote for these two mutations or homozygous for R49X...
  8. ncbi request reprint Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene
    Paul J Isackson
    Department of Pediatrics, Division of Genetics, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 86:250-6. 2005
    ..Analysis of 137 Caucasian normal control patients determined that the K287I mutation is relatively frequent (5.1% carrier frequency), whereas the IVS2-(4-7)delCTTT mutation is rare and not present in 274 chromosomes...