Irini Manoli

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Chronic myopathy due to immunoglobulin light chain amyloidosis
    Irini Manoli
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    Mol Genet Metab 108:249-54. 2013
  2. pmc Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
    Susan Sparks
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Neurol 7:3. 2007
  3. ncbi request reprint Monoamine oxidase-A is a major target gene for glucocorticoids in human skeletal muscle cells
    Irini Manoli
    Endocrine Section, Laboratory of Clinical Investigation, NCCAM, NIH, Bethesda, Maryland 20892, USA
    FASEB J 19:1359-61. 2005
  4. pmc Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
    Irini Manoli
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Am J Med Genet A 152:1474-83. 2010
  5. ncbi request reprint Mitochondria as key components of the stress response
    Irini Manoli
    Human Biochemical Genetics Section, MGB, NHGRI, NIH, Bethesda, MD 20892, USA
    Trends Endocrinol Metab 18:190-8. 2007
  6. pmc Glucocorticoid receptor (GR) beta has intrinsic, GRalpha-independent transcriptional activity
    Tomoshige Kino
    Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892 1109, USA
    Biochem Biophys Res Commun 381:671-5. 2009
  7. pmc Brx mediates the response of lymphocytes to osmotic stress through the activation of NFAT5
    Tomoshige Kino
    Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Sci Signal 2:ra5. 2009
  8. ncbi request reprint Rho family Guanine nucleotide exchange factor Brx couples extracellular signals to the glucocorticoid signaling system
    Tomoshige Kino
    Pediatric Endocrinology Section, Reproductive Biology and Medicine Branch, NICHD, National Institutes of Health, Bethesda Maryland 20892, USA
    J Biol Chem 281:9118-26. 2006
  9. ncbi request reprint Modulatory effects of L-carnitine on glucocorticoid receptor activity
    Irini Manoli
    Endocrine Section, Laboratory of Clinical Investigation, National Center for Complementary and Alternative Medicine, National Institutes of Health, Bethesda, MD 20892, USA
    Ann N Y Acad Sci 1033:147-57. 2004
  10. pmc Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
    Irini Manoli
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 110:13552-7. 2013

Collaborators

Detail Information

Publications18

  1. pmc Chronic myopathy due to immunoglobulin light chain amyloidosis
    Irini Manoli
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    Mol Genet Metab 108:249-54. 2013
    ..This case highlights the importance of early diagnosis and therapy for this treatable cause of a chronic myopathy with muscle hypertrophy...
  2. pmc Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
    Susan Sparks
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Neurol 7:3. 2007
    ..Reduced sialylation of muscle glycoproteins, such as alpha-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM...
  3. ncbi request reprint Monoamine oxidase-A is a major target gene for glucocorticoids in human skeletal muscle cells
    Irini Manoli
    Endocrine Section, Laboratory of Clinical Investigation, NCCAM, NIH, Bethesda, Maryland 20892, USA
    FASEB J 19:1359-61. 2005
    ..We suggest that MAO-A-mediated oxidative stress can lead to cell damage, representing a novel pathogenetic mechanism for glucocorticoid-induced myopathy and a potential target for therapeutic intervention...
  4. pmc Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
    Irini Manoli
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Am J Med Genet A 152:1474-83. 2010
    ..Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient...
  5. ncbi request reprint Mitochondria as key components of the stress response
    Irini Manoli
    Human Biochemical Genetics Section, MGB, NHGRI, NIH, Bethesda, MD 20892, USA
    Trends Endocrinol Metab 18:190-8. 2007
    ..Understanding the often reciprocal interplay between stress mediators and mitochondrial function is likely to help identify potential therapeutic targets for many stress and mitochondria-related pathologies...
  6. pmc Glucocorticoid receptor (GR) beta has intrinsic, GRalpha-independent transcriptional activity
    Tomoshige Kino
    Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892 1109, USA
    Biochem Biophys Res Commun 381:671-5. 2009
    ..Our results indicate that GRbeta has intrinsic, GRalpha-independent, gene-specific transcriptional activity, in addition to its previously reported dominant negative effect on GRalpha-induced transactivation of GRE-driven promoters...
  7. pmc Brx mediates the response of lymphocytes to osmotic stress through the activation of NFAT5
    Tomoshige Kino
    Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Sci Signal 2:ra5. 2009
    ..Our results indicate that Brx integrates the responses of immune cells to osmotic stress and inflammation by elevating intracellular osmolarity and stimulating the production of cytokines...
  8. ncbi request reprint Rho family Guanine nucleotide exchange factor Brx couples extracellular signals to the glucocorticoid signaling system
    Tomoshige Kino
    Pediatric Endocrinology Section, Reproductive Biology and Medicine Branch, NICHD, National Institutes of Health, Bethesda Maryland 20892, USA
    J Biol Chem 281:9118-26. 2006
    ..Nuclear Brx might act as a local GRE-GR-transcriptosome activator by mediating the effect of small G-proteins on glucocorticoid-regulated genes...
  9. ncbi request reprint Modulatory effects of L-carnitine on glucocorticoid receptor activity
    Irini Manoli
    Endocrine Section, Laboratory of Clinical Investigation, National Center for Complementary and Alternative Medicine, National Institutes of Health, Bethesda, MD 20892, USA
    Ann N Y Acad Sci 1033:147-57. 2004
    ..The clinical and therapeutic implications of these findings, as well as a better understanding of their mechanisms, warrant further research...
  10. pmc Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
    Irini Manoli
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 110:13552-7. 2013
    ....
  11. pmc Allele-specific silencing of the dominant disease allele in sialuria by RNA interference
    Riko D Klootwijk
    Medical Genetics Branch, NHGRI, NIH, 10 Center Dr, MSC 1851, Bethesda, MD 20892, USA
    FASEB J 22:3846-52. 2008
    ..These findings indicate that allele-specific silencing of a mutated allele is a viable therapeutic strategy for autosomal dominant diseases, including sialuria...
  12. pmc The Gne M712T mouse as a model for human glomerulopathy
    Sravan Kakani
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Am J Pathol 180:1431-40. 2012
    ..Moreover, the partial restoration of glomerular architecture in ManNAc-treated mice highlights ManNAc as a potential treatment for humans affected with disorders of glomerular hyposialylation...
  13. pmc Hermansky-Pudlak syndrome in two African-American brothers
    Melissa A Merideth
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Am J Med Genet A 149:987-92. 2009
    ..A history of easy bruising or evidence of a bleeding disorder, combined with some degree of hypopigmentation, should prompt investigation into the diagnosis of HPS...
  14. doi request reprint Renal growth in isolated methylmalonic acidemia
    Paul S Kruszka
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 15:990-6. 2013
    ..We sought to predict renal growth based on clinical and metabolic parameters in patients with isolated methylmalonic acidemia, a group of disorders associated with chronic kidney disease...
  15. pmc Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
    Jennifer L Sloan
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:883-6. 2011
    ....
  16. pmc Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
    Belinda Galeano
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 208921851, USA
    J Clin Invest 117:1585-94. 2007
    ..The results also support evaluation of ManNAc as a treatment not only for HIBM but also for renal disorders involving proteinuria and hematuria due to podocytopathy and/or segmental splitting of the glomerular basement membrane...
  17. ncbi request reprint Third-generation human mitochondria-focused cDNA microarray and its bioinformatic tools for analysis of gene expression
    Xueyan Bai
    The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA
    Biotechniques 42:365-75. 2007
    ..Thus, hMitChip3 and its bioinformatics software provide an integrated tool for profiling mitochondria-focused gene expression...
  18. ncbi request reprint Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy
    Paul J M Savelkoul
    Mol Genet Metab 88:389-90. 2006