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 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
  4. 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
  5. 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
  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 A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency
    Irini Manoli
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 18:396-404. 2016
  8. 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
  9. pmc 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
  10. pmc Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia
    Elizabeth A Harrington
    1 Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Hum Gene Ther 27:345-53. 2016

Collaborators

Detail Information

Publications25

  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 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...
  4. 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...
  5. 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...
  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 A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency
    Irini Manoli
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 18:396-404. 2016
    ..We examined the effects of imbalanced branched-chain amino acid intake on growth outcomes in cblC-deficient patients...
  8. 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...
  9. pmc 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...
  10. pmc Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia
    Elizabeth A Harrington
    1 Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Hum Gene Ther 27:345-53. 2016
    ..The unexpected lack of NAbs against AAV in this patient population has encouraging implications for systemic gene delivery as a treatment for mut MMA. ..
  11. doi request reprint Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients
    Yiouli P Ktena
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A18, Bethesda, MD, USA
    J Inherit Metab Dis 38:847-53. 2015
    ..It has been stated that propofol is contraindicated in this population. We report our experience with propofol administration in a large series of patients...
  12. doi request reprint Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)
    Yiouli P Ktena
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 167:2075-84. 2015
    ..Early assessment, referral, and implementation of age-appropriate rehabilitation services should significantly improve independence and quality of life...
  13. pmc Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency
    Brian P Brooks
    National Eye Institute, Ophthalmic Genetics and Visual Function Branch, National Institutes of Health, Bethesda, Maryland National Human Genome Research Institute, Genetics and Molecular Biology Branch, National Institutes of Health, Bethesda, Maryland Electronic address
    Ophthalmology 123:571-82. 2016
    ..To explore the ocular manifestations of cobalamin C (cblC) deficiency, an inborn error of intracellular vitamin B12 metabolism...
  14. 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...
  15. pmc A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias
    Irini Manoli
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 18:386-95. 2016
    ..We aimed to assess the effects of imbalanced branched-chain amino acid intake on metabolic and growth parameters in a cohort of patients with MMA ascertained via a natural history study...
  16. pmc Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review
    Donna B Raval
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    J Inherit Metab Dis 38:839-46. 2015
    ..Information surrounding maternal and fetal complications associated with the underlying disorders remains largely unexplored...
  17. pmc 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...
  18. 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
    ....
  19. 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...
  20. 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...
  21. 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...
  22. 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
    ....
  23. 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...
  24. 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...
  25. 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