crigler najjar syndrome

Summary

Summary: A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.

Top Publications

  1. ncbi Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia
    I Zmetáková
    Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynská dolina B2 210, 842 15 Bratislava, Slovakia
    Gen Physiol Biophys 26:306-10. 2007
  2. ncbi Genetic factors in neonatal hyperbilirubinemia and kernicterus
    S Umit Sarici
    Department of Pediatrics, Gulhane Military Medical Academy, Ankara, Turkey
    Turk J Pediatr 49:245-9. 2007
  3. ncbi [Crigler-Najjar syndrome]
    M Torres
    Servicio de Medicina Interna, Hospital de L Esperit Sant, Santa Coloma de Gramenet, Barcelona, Spain
    Gastroenterol Hepatol 28:637-40. 2005
  4. ncbi [From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II]
    J P H Drenth
    Universitair Medisch Centrum St Radboud, afd Maag, Darm en Leverziekten, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 146:1488-90. 2002
  5. ncbi Adeno-associated virus vector serotypes mediate sustained correction of bilirubin UDP glucuronosyltransferase deficiency in rats
    Jurgen Seppen
    Academic Medical Center Liver Center, 1105 BK Amsterdam, The Netherlands
    Mol Ther 13:1085-92. 2006
  6. ncbi Therapeutic lentivirus-mediated neonatal in vivo gene therapy in hyperbilirubinemic Gunn rats
    Tuan Huy Nguyen
    Department of Microbiology and Molecular Medicine, CMU, University of Geneva, CH 1211 Geneva, Switzerland
    Mol Ther 12:852-9. 2005
  7. ncbi Crigler-Najjar syndrome type 2
    Ching Shan Huang
    Department of Medical Technology, Foo Yin University, Kaohsiung, Taiwan
    J Formos Med Assoc 105:950-3. 2006
  8. ncbi Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia
    A A Khan
    Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Owaisi Hospital and Research Center, Hyderabad, India
    Transplant Proc 40:1148-50. 2008
  9. ncbi A novel strategy for in vivo expansion of transplanted hepatocytes using preparative hepatic irradiation and FasL-induced hepatocellular apoptosis
    M Takahashi
    Department of Medicine, Marion Bessin Liver Research Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Gene Ther 10:304-13. 2003
  10. ncbi [Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus]
    Doris Kraemer
    Medizinische Poliklinik, Universitat Wurzburg
    Med Klin (Munich) 97:528-32. 2002

Research Grants

  1. Deriving hepatocytes from disease specific iPS to treat metabolic liver disorders
    Namita Roy-Chowdhury; Fiscal Year: 2013
  2. MR Spectroscopy to Evaluate Liver Repopulation by Transplanted Hepatocytes
    Chandan Guha; Fiscal Year: 2009
  3. Bilirubin and Photobilirubin: Metabolism & Exretion
    Antony McDonagh; Fiscal Year: 2005
  4. Neonatal Phototherapy / Bilirubin Excretion
    DAVID LIGHTNER; Fiscal Year: 2007
  5. GENE EXPRESIION WITH ADENOVIRUS-MEDIATED TRANSFER
    Frederick Askari; Fiscal Year: 2001
  6. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCORONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2006
  7. IMMUNE RESPONSE TO ADENOVIRAL GENE TRANSFER
    Frederick Askari; Fiscal Year: 2000
  8. INHERITED DISORDERS OF BILIRUBIN GLUCURONIDATION
    Jayanta Roy Chowdhury; Fiscal Year: 1991
  9. HDAd-mediated gene therapy for hemophilia B
    Nicola Brunetti Pierri; Fiscal Year: 2009
  10. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2007

Scientific Experts

Detail Information

Publications167 found, 100 shown here

  1. ncbi Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia
    I Zmetáková
    Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynská dolina B2 210, 842 15 Bratislava, Slovakia
    Gen Physiol Biophys 26:306-10. 2007
    ..Haplotype analysis suggests that the 1220delA mutation is identical by descent in both families, though they originate from two ethnically different populations (Slovaks vs. Roms)...
  2. ncbi Genetic factors in neonatal hyperbilirubinemia and kernicterus
    S Umit Sarici
    Department of Pediatrics, Gulhane Military Medical Academy, Ankara, Turkey
    Turk J Pediatr 49:245-9. 2007
    ..In these various syndromes where enzymatic and genetic deficiencies are present, studies about treatment with gene replacement, though currently experimental, are ongoing, especially in type 1 Crigler-Najjar...
  3. ncbi [Crigler-Najjar syndrome]
    M Torres
    Servicio de Medicina Interna, Hospital de L Esperit Sant, Santa Coloma de Gramenet, Barcelona, Spain
    Gastroenterol Hepatol 28:637-40. 2005
  4. ncbi [From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II]
    J P H Drenth
    Universitair Medisch Centrum St Radboud, afd Maag, Darm en Leverziekten, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 146:1488-90. 2002
    ..There is a persistent unconjugated hyperbilirubinemia (range 300-850 mumol/l) with the plasma concentrations being higher in type I than in type II. Genetic mutations in exon 1-5 cause both Crigler-Najjar type I and type II...
  5. ncbi Adeno-associated virus vector serotypes mediate sustained correction of bilirubin UDP glucuronosyltransferase deficiency in rats
    Jurgen Seppen
    Academic Medical Center Liver Center, 1105 BK Amsterdam, The Netherlands
    Mol Ther 13:1085-92. 2006
    ..These lipid deposits were not seen in age-matched control animals. AAV1 vectors are promising candidates for CN gene therapy because they can mediate a reduction in serum bilirubin levels in Gunn rats that would be therapeutic in humans...
  6. ncbi Therapeutic lentivirus-mediated neonatal in vivo gene therapy in hyperbilirubinemic Gunn rats
    Tuan Huy Nguyen
    Department of Microbiology and Molecular Medicine, CMU, University of Geneva, CH 1211 Geneva, Switzerland
    Mol Ther 12:852-9. 2005
    ..This work represents the first demonstration of a complete and permanent correction of hyperbilirubinemia in Gunn rats using lentiviral vectors...
  7. ncbi Crigler-Najjar syndrome type 2
    Ching Shan Huang
    Department of Medical Technology, Foo Yin University, Kaohsiung, Taiwan
    J Formos Med Assoc 105:950-3. 2006
    ..Two of these mutations were novel and variations identified within the coding region of the UGT1A1 gene were considered the cause of CN-2 in all three patients...
  8. ncbi Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia
    A A Khan
    Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Owaisi Hospital and Research Center, Hyderabad, India
    Transplant Proc 40:1148-50. 2008
    ..This study was developed to assess the safety, feasibility, and efficacy of hepatic progenitor cell transplantation in a child with CNS type 1...
  9. ncbi A novel strategy for in vivo expansion of transplanted hepatocytes using preparative hepatic irradiation and FasL-induced hepatocellular apoptosis
    M Takahashi
    Department of Medicine, Marion Bessin Liver Research Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Gene Ther 10:304-13. 2003
    ..This is the first demonstration of massive hepatic repopulation by transplanted cells by HIR and FasL-induced controlled apoptosis of host liver cells...
  10. ncbi [Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus]
    Doris Kraemer
    Medizinische Poliklinik, Universitat Wurzburg
    Med Klin (Munich) 97:528-32. 2002
    ..Crigler-Najjar syndrome II leads to a more serious kind of hyperbilirubinemia. In case of Crigler-Najjar syndrome I patients are suffering from a very severe hyperbilirubinemia, which often causes death during the first months of life...
  11. ncbi Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia
    Maria D'Apolito
    Haematologica 92:133-4. 2007
    ..We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects...
  12. ncbi Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II
    Yeon Seok Seo
    Scand J Gastroenterol 42:540-1. 2007
  13. ncbi Involvement of UDP-glucuronosyltransferase activity in irinotecan-induced delayed-onset diarrhea in rats
    Masaharu Onoue
    Yakult Central Institute for Microbiological Research, 1796 Yaho, Kunitachi shi, Tokyo, 186 8650, Japan
    Cancer Chemother Pharmacol 61:595-605. 2008
    ..In the clinic, great care is needed when using chemotherapy with CPT-11 in patients with poor UGT activity...
  14. pmc Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancy
    W S Lee
    Liver Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
    Arch Dis Child 85:38-42. 2001
    ....
  15. ncbi A non-immunogenic adenoviral vector, coexpressing CTLA4Ig and bilirubin-uridine-diphosphoglucuronateglucuronosyltransferase permits long-term, repeatable transgene expression in the Gunn rat model of Crigler-Najjar syndrome
    N R Thummala
    Department of Medicine, Albert Einstein College of Medicine, New York, NY 10461, USA
    Gene Ther 9:981-90. 2002
    ..High levels of adenovirus-specific antibodies and CTL, and hepatic inflammation were found. This is the first demonstration that coexpression of CTLA4Ig permits prolonged expression and repeatable gene transfer by an adenoviral vector...
  16. ncbi Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease
    Nghia Nguyen
    Laboratory of Environmental Toxicology, Departments of Chemistry and Biochemistry and Pharmacology, University of California, San Diego, La Jolla, California 92093, USA
    J Biol Chem 283:7901-11. 2008
    ..Thus, the loss of UGT1A function in Ugt1(-/-) mice leads to a metabolic syndrome that can serve as a model to further investigate the toxicities associated with unconjugated bilirubin and the impact of this disease in humans...
  17. ncbi Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation
    Veronica Servedio
    Laboratory of Molecular Medicine, University of Foggia, Italy
    Hum Mutat 25:325. 2005
    ....
  18. ncbi Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases
    F M Petit
    Clin Genet 66:571-2. 2004
  19. ncbi Gene therapy for inherited hyperbilirubinemias
    N Roy-Chowdhury
    Department of Medicine, Marion Bessin Liver Research Center, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10467, USA
    J Perinatol 21:S114-8; discussion S125-7. 2001
    ..In summary, effective gene therapy methods have been validated in Gunn rats. Despite considerable remaining hurdles, gene therapy for CN-1 could become a clinical reality by the turn of this decade...
  20. ncbi Vigintiphobia revisited
    Jon F Watchko
    Division of Neonatology and Developmental Biology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Pediatrics 115:1747-53. 2005
    ....
  21. ncbi Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese
    Ching Shan Huang
    Department of Medical Technology, Fooyin University, 151 Chin Hsueh Rd, Ta Liao Hsiang, Kaohsiung, Hsien, 831, Taiwan
    J Biomed Sci 12:445-50. 2005
    ..Further investigation is warranted to evaluate this phenomenon...
  22. ncbi The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    P J Bosma
    Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands
    N Engl J Med 333:1171-5. 1995
    ..Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal...
  23. ncbi [Inherited disorders of bilirubin metabolism]
    F Rossi
    Dipartimento di Pediatria, , Naples
    Minerva Pediatr 57:53-63. 2005
    ..Liver or liver cell transplantation is the therapy in some cases...
  24. ncbi [A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]
    Norikazu Shimizu
    Second Department of Pediatrics, Toho University School of Medicine, Tokyo
    No To Hattatsu 37:337-41. 2005
    ..Subsequent liver transplantation resulted in improvement of neurological signs and symptoms, and recovery of his mental function...
  25. ncbi Single hepatic venous injection of liver-specific naked plasmid vector expressing human UGT1A1 leads to long-term correction of hyperbilirubinemia and prevention of chronic bilirubin toxicity in Gunn rats
    Zhen Jia
    Department of Pediatrics, Waisman Center, University of Wisconsin Madison, 53705, USA
    Hum Gene Ther 16:985-95. 2005
    ..Our results provide further evidence of the feasibility of long-term correction of hepatic enzyme deficiencies with plasmid vectors optimized for expression in the liver...
  26. ncbi Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I
    P J Bosma
    Department of Gastroenterology and Liver Diseases, Academic Medical Center, Amsterdam, The Netherlands
    FASEB J 6:2859-63. 1992
    ..Presence of identical abnormalities in the common regions of the three mRNAs is consistent with the finding that the common 3' regions of the two B-UGT mRNAs and the P-UGT mRNA are encoded by four shared exons...
  27. pmc Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase
    J Seppen
    Department of Gastrointestinal and Liver Diseases, Academic Medical Centre, Amsterdam, The Netherlands
    J Clin Invest 94:2385-91. 1994
    ..We conclude that CN type I is caused by a complete absence of functional B-UGT and that in CN type II B-UGT activity is reduced...
  28. ncbi Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II
    S Aono
    Department of Perinatology, Aichi Prefecture Colony, Japan
    Biochem Biophys Res Commun 197:1239-44. 1993
    ..Our patient was homozygous for all defects and his parents and elder brother were heterozygous for all defective alleles. The findings suggest that the CN Type II is inherited as an autosomal recessive trait...
  29. ncbi Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes
    Elisio Costa
    Escola Superior de Saúde, Instituto Politecnico de Braganca, Avenida D Afonso V, 5300 121 Bragança, Portugal
    Blood Cells Mol Dis 36:91-7. 2006
    ..Homozygosity for the [TA] insertion was found to be the most frequent cause of GS in our population. Identification of further mutations in the UGT1A1 gene was also seen to contribute significantly towards diagnosis...
  30. ncbi Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man
    P J Bosma
    Division of Gastroenterology, Academic Medical Centre, Amsterdam, The Netherlands
    J Biol Chem 269:17960-4. 1994
    ..Furthermore, we show that the mutation in B-UGT1 observed in each of the two CN-I patients inactivates B-UGT1. Together, the results indicate that B-UGT1 is the only physiologically relevant isoform in bilirubin glucuronidation...
  31. ncbi Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene
    Y Maruo
    Department of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan
    Pediatrics 106:E59. 2000
    ..We analyzed the bilirubin UGT1A1 of infants with prolonged unconjugated hyperbilirubinemia associated with breast milk to ascertain whether genetic factors are involved...
  32. ncbi Ex vivo lentivirus transduction and immediate transplantation of uncultured hepatocytes for treating hyperbilirubinemic Gunn rat
    Tuan Huy Nguyen
    Department of Microbiology and Molecular Medicine, University of Geneva Medical Center, Geneva, Switzerland, and Service de biochimie, Hopital Saint Joseph, Paris, France
    Transplantation 82:794-803. 2006
    ..Here, we evaluated the SLIT approach in Gunn rats, the animal model for Crigler-Najjar syndrome type 1, a defect in bilirubin UDP-glucuronosyltransferase (BUGT)...
  33. ncbi Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population
    Surini Yusoff
    Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kelantan, Malaysia
    Biol Neonate 89:171-6. 2006
    ..These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice...
  34. pmc Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 22:483-8. 2011
    ....
  35. ncbi Hepatic transport of serum bilirubin, bromsulfophthalein, and indocyanine green in patients with congenital non-hemolytic hyperbilirubinemia and patients with constitutional indocyanine green excretory defect
    M Nambu
    Department of Internal Medicine, Urayasu Hospital of Juntendo, University School of Medicine, Chiba, Japan
    J Gastroenterol 31:228-36. 1996
    ..These results indicate that studies of the hepatic transport of bilirubin, BSP, and ICG are useful for determining the etiological factors involved in congenital hyperbilirubinemia and constitutional ICG excretory defect...
  36. ncbi Linkage disequilibrium of UGT1A1 *6 and UGT1A1 *28 in relation to UGT1A6 and UGT1A7 polymorphisms
    Naohito Urawa
    Division of Clinical Medicine and Biomedical Sciences, Department of Gastroenterology and Hepatology, Institute of Medical Science, Mie University Graduate School of Medicine, Mie 514 8507, Japan
    Oncol Rep 16:801-6. 2006
    ..Gilbert's syndrome (GS) and Crigler Najjar syndrome type 2 (CNS-II) are characterized by unconjugated hyperbilirubinemia due to reduced enzymatic activity of ..
  37. pmc Role of cysteine residues in the function of human UDP glucuronosyltransferase isoform 1A1 (UGT1A1)
    Siddhartha S Ghosh
    Department of Medicine, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Biochem J 392:685-92. 2005
    ....
  38. ncbi Total knee arthroplasty and Crigler-Najjar syndrome: a case report
    David Walmsley
    Division of Orthopedic Surgery, Department of Surgery, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada
    Knee 17:252-4. 2010
    ..A literature review and intra-operative observations provide insight into the possible relationship between hyperbilirubinemia and osteoarthritis as well as the peri-operative considerations to be made for this group of patients...
  39. ncbi The hereditary hyperbilirubinaemias
    M J Nowicki
    Eastern Virginia Medical School, Norfolk, USA
    Baillieres Clin Gastroenterol 12:355-67. 1998
    ..These rare diseases share many clinical features; however, they can be readily distinguished by biochemical markers in the urine and bile...
  40. ncbi Evolution of the activity of UGT1A1 throughout the development and adult life in a rat
    N Bustamante
    Departamento de Fisiología Fisiología Animal II, Facultad de Biologia, Universidad Complutense de Madrid UCM, 28040, Madrid, Spain
    Life Sci 78:1688-95. 2006
    ..We have found that concentration of samples by evaporation and ulterior storing at -20 degrees C seemed to be suitable for the maintenance of samples...
  41. ncbi Living donor liver transplantation for pediatric patients with inheritable metabolic disorders
    Daisuke Morioka
    Organ Transplant Unit, Kyoto University Hospital, Shogoin Kawara cho, Sakyo ku, Kyoto, 606 8507, Japan
    Am J Transplant 5:2754-63. 2005
    ..LDLT using parental donors can be recommended as an effective treatment for pediatric patients with IMD. In the non-liver-oriented diseases, however, satisfactory outcomes were not obtained by hepatic replacement alone...
  42. ncbi Isolation of hepatocytes from livers from non-heart-beating donors for cell transplantation
    Robin D Hughes
    Institute of Liver Studies, King s College London School of Medicine at Guy s, King s College and St Thomas Hospitals, London, UK
    Liver Transpl 12:713-7. 2006
    ..In conclusion, hepatocytes suitable for cell transplantation can be obtained from NHBD livers. Higher viability values may be obtained if both warm and cold ischemia times of donor liver can be reduced prior to processing...
  43. ncbi [UDP-glucuronosyltransferase]
    Yoshihiro Maruo
    Department of Pediatrics, Biology Shiga University of Medical Science, Seta, Otsu, Shiga 520 2192, Japan
    Nihon Eiseigaku Zasshi 56:629-33. 2002
    ..These polymorphisms of UGTs might contribute to individual variations of drug metabolism and toxicity as well as inherited diseases...
  44. ncbi [Type I Crigler Najjar syndrome in Tunisia: a study of 30 cases]
    Hajer Aloulou
    Service de pédiatrie CHU Hédi CHAKER DE SFAX
    Tunis Med 88:707-9. 2010
    ..Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate (UDP) glucuronosyltransferase activity in the liver...
  45. ncbi Review of hepatocyte transplantation
    Masahiro Ito
    Department of Surgery, Fujita Health University, Toyoake, Aichi, Japan
    J Hepatobiliary Pancreat Surg 16:97-100. 2009
    ....
  46. ncbi Monitoring of intraportal liver cell application in children
    Jochen Meyburg
    Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Cell Transplant 19:629-38. 2010
    ..Time courses for changes in PVF, PVP, and liver enzymes were obtained. Thorough monitoring of portal vein pressure and duplex sonography according to a defined protocol is likely to increase safety of cell application in pediatric LCT...
  47. ncbi Biochemical and molecular aspects of genetic disorders of bilirubin metabolism
    T Iyanagi
    Department of Life Science, Himeji Institute of Technology, Hyogo, Japan
    Biochim Biophys Acta 1407:173-84. 1998
    ..Elucidation of both the structure of the UGT1 gene complex, and the Mrp2 (cMoat) gene which encodes the canalicular conjugate export pump, has led to a greater understanding of the genetic basis of hyperbilirubinemia...
  48. ncbi Therapeutic application of chimeric RNA/DNA oligonucleotide based gene therapy
    L W Lai
    Department of Medicine, Sections of Endocrinology and Nephrology, University of Arizona Health Sciences Center, Tucson, Arizona, USA
    Expert Opin Biol Ther 1:41-7. 2001
    ..Chimera based gene therapy has the potential to develop into powerful therapeutic modality for genetic diseases...
  49. ncbi Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates
    Wandee Udomuksorn
    Department of Clinical Pharmacology, Flinders University and Flinders Medical Centre, Adelaide, South Australia, Australia
    Pharmacogenet Genomics 17:1017-29. 2007
    ....
  50. ncbi Liver cell transplantation in children
    Jochen Meyburg
    Department of General Paediatrics, University Children s Hospital, Heidelberg, Germany
    Clin Transplant 23:75-82. 2009
    ..Nevertheless, these individual therapeutic attempts of LCT yielded encouraging results, and prospective studies should be initiated...
  51. ncbi UDP-glucuronosyltransferases: gene structures of UGT1 and UGT2 families
    Ida S Owens
    Section on Genetic Disorders of Drug Metabolism, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
    Methods Enzymol 400:1-22. 2005
    ..Evidence also shows that polymorphisms in nonbilirubin-specific first exons also impact chemical detoxifications and other diseases...
  52. ncbi Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome
    François M Petit
    Service de Biochimie et Hormonologie, Hopital Antoine Beclere, Clamart, France
    Eur J Hum Genet 13:278-82. 2005
    ..This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases...
  53. ncbi Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis
    Bixia Zheng
    Department of Gastroenterology, Nanjing Children s Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China
    BMC Pediatr 14:267. 2014
    ..Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert's syndrome...
  54. ncbi [CMV-enterocolitis as a cause for repeated intestinal intussusceptions in an adult patient after liver transplantation?]
    S Pischke
    Klinik fur Gastroenterologie, Hepatologie und Endokrinologie, Medizinische Hochschule Hannover
    Z Gastroenterol 48:688-92. 2010
    ..Whenever possible a PCR for CMV in colon biopsies should be carried out to detect an intestinal CMV infection because as shown in our case results for immunohistopathology and CMV pp65 can be negative despite a chronic infection...
  55. ncbi Assessment of UGT polymorphisms and neonatal jaundice
    Mark G Bartlett
    University of Minnesota, Minneapolis, MN 55455, USA
    Semin Perinatol 35:127-33. 2011
    ..The purpose of this article is to review the current understanding of the genetic polymorphisms that result in these diseases and discuss recent advances in diagnosis and treatment...
  56. ncbi Orthodontic treatment of a child with Crigler-Najjar syndrome type I using tacrolimus following liver transplantation
    João Batista Novaes-Júnior
    Department of Oral Surgery and Pathology, Faculty of Dentistry, Federal University of Minas Gerais, Belo Horizonte, Brazil
    Gen Dent 60:e114-8. 2012
    ..The child exhibited Class II division 1 malocclusion. The treatment option was to use a Herbst appliance for seven months and a fixed appliance (straight wire) for 12 months...
  57. pmc Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
    Karippoth Mohandas Nair
    Department of Pediatrics, Medical College, Calicut, Kerala, India
    Indian J Hum Genet 18:233-4. 2012
    ..Here, we describe a case with a novel homozygous UGT1A1 p.Pro176Leu mutation...
  58. ncbi UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias
    Suliman Khan
    Department of Biotechnology, Quaid i Azam University, Islamabad, Pakistan
    Ann Hum Genet 77:482-7. 2013
    ..R341X (proband D), and a TA insertion A(TA)7TAA in the promoter region (proband F). The present study extends the spectrum of UGT1A1 gene mutations and may be helpful in the diagnosis of Crigler-Najjar syndrome and Gilbert syndrome. ..
  59. ncbi Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II
    Andreas Holstein
    1st Department of Medicine, Klinikum Lippe Detmold, Germany
    Scand J Gastroenterol 40:1124-6. 2005
    ..This resulted in significantly reduced bilirubin levels in the mother, who gave birth to a healthy boy. A neonatal hyperbilirubinemia resolved spontaneously...
  60. ncbi Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature
    Erhan Bayram
    Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 55:349-53. 2013
    ....
  61. pmc Intrathecal baclofen therapy after liver transplant in a patient with Crigler-Najjar syndrome
    Napala R Pratini
    Children s Hospital and Research Center, 747 52nd St, Oakland, CA 94609 Electronic address
    PM R 6:196-8. 2014
    ..Despite his complicated history, this patient has remained medically stable after both interventions. ..
  62. pmc Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene
    Yan Li
    Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, China Department of Gastroenterology, Affiliated Children s Hospital, Capital Institute of Pediatrics, Beijing 100020, China
    J Zhejiang Univ Sci B 15:474-81. 2014
    ..239_245delCTGTGCC (p.Pro80HisfsX6), c.1253delT (p.Met418ArgfsX5), and c.1156G>T (p.Val386Phe). The former two mutations are pathogenic; however, the pathogenic mechanism of c.1156G>T (p.Val386Phe) is unknown. ..
  63. pmc Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient
    J K Ritter
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Invest 90:150-5. 1992
    ....
  64. ncbi Towards liver-directed gene therapy for Crigler-Najjar syndrome
    Paula S Montenegro Miranda
    AMC Liver Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Curr Gene Ther 9:72-82. 2009
    ..Since CN seems an ideal model for other monogenetic inherited metabolic liver disorders, development of liver-directed gene-therapy has relevance beyond this rare disease...
  65. ncbi Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II
    K Yamamoto
    Second Department of Internal Medicine, Shiga University of Medical Science, Japan
    J Hum Genet 43:111-4. 1998
    ..Although the first and the second type of mutations are recessive, the third type appears to be dominant with incomplete penetrance, since the allele frequency of the insertion mutation of the TATAA element is very high (40%)...
  66. ncbi Living-related liver transplantation for Crigler-Najjar syndrome in Saudi Arabia
    Haider Al Shurafa
    Department of Surgery, Riyadh Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia
    Clin Transplant 16:222-6. 2002
    ..To analyse the outcome of six children with Crigler-Najjar syndrome type I (CNS-I) and report the first three living-related liver transplants for this syndrome in Saudi Arabia and the Middle East...
  67. ncbi Kernicterus in a child with Crigler-Najjar Syndrome Type II
    B Poddar
    Department of Pediatrics, Government Medical College, Sector 32, Chandigarh 160 047
    Trop Gastroenterol 23:33-4. 2002
  68. pmc Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus
    A Kadakol
    J Med Genet 38:244-9. 2001
  69. ncbi Orlistat treatment of unconjugated hyperbilirubinemia in Crigler-Najjar disease: a randomized controlled trial
    Anja M Hafkamp
    Department of Pediatrics, Pediatric Gastroenterology, Center for Liver, Digestive and Metabolic Diseases, University of Groningen, 9700 RB, Groningen, The Netherlands
    Pediatr Res 62:725-30. 2007
    ..In conclusion, orlistat treatment decreases plasma UCB concentrations, particularly in a subgroup of CN patients. Dietary fat intake may determine the responsiveness to orlistat treatment...
  70. ncbi Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report
    T Ito
    Department of Obstetrics and Gynecology, Hakuai Hospital, Yonago, Japan
    J Obstet Gynaecol Res 27:33-5. 2001
    ..A 34-year-old woman, gravida 4, para 1, with Crigler-Najjar syndrome Type II was treated with phenobarbital administration following phototherapy during each of 2 pregnancies. Both infants were healthy and developed normally...
  71. doi Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I
    Yoshihiro Maruo
    Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan
    J Pediatr Gastroenterol Nutr 46:308-11. 2008
  72. ncbi Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype
    A Kadakol
    Departments of Medicine and Molecular Genetics and Marion Bessin Liver Research Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Hum Mutat 16:297-306. 2000
    ..When the normal allele of a heterozygote carrier for a Crigler-Najjar type structural mutation contains a Gilbert type promoter, intermediate levels of hyperbilirubinemia, consistent with the diagnosis of CN-2, may be observed...
  73. ncbi Characterization of the uridine diphosphate-glucuronosyltransferase-catalyzing thyroid hormone glucuronidation in man
    K A Findlay
    Department of Molecular and Cellular Pathology, Ninewells Hospital and Medical School, University of Dundee, Scotland
    J Clin Endocrinol Metab 85:2879-83. 2000
    ..Bioactive T3 is not significantly glucuronidated by these isoforms and other UGTs, and sulfotransferases may be involved...
  74. ncbi Normal neurological outcome in two infants treated with exchange transfusions born to mothers with Crigler-Najjar Type 1 disorder
    Simon Hannam
    Department of Child Health, Kings College Hospital, London, SE5 9RS, UK
    Eur J Pediatr 168:427-9. 2009
    ..We propose that this intervention might have improved the neurological outcome of these infants...
  75. ncbi Study of in vitro glucuronidation of hydroxyquinolines with bovine liver microsomes
    Masanobu Kanou
    Department of Drug Metabolism and Disposition, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 467 8603, Japan
    Fundam Clin Pharmacol 16:513-7. 2002
    ..Fluoroquinoline (FQ) derivatives, such as 3FQ, 7.8diFQ and 6,7,8triFQ, did not show any substrate activities. These results suggest that there are therapeutic problems in administration of some quinoline drugs to patients with jaundice...
  76. ncbi Case of the month. Chronic hepatitis
    Audrey Griffin
    Wichita State University, Physician Assistant Program, Wichita, Kansas, USA
    JAAPA 19:70. 2006
  77. ncbi Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1
    Elisio Costa
    Instituto Politecnico de Braganca, Escola Superior de Saúde, Dr António Bernardino de Almeida, NA, 4200 072 Porto, Bragança, Portugal
    Hum Genet 124:301. 2008
  78. ncbi Current drug treatment options in neonatal hyperbilirubinaemia and the prevention of kernicterus
    F F Rubaltelli
    Department of Paediatrics, University of Florence School of Medicine, Italy
    Drugs 56:23-30. 1998
    ..The intramuscular administration of a single dose of Sn-mesoporphyrin (6 mumol/kg bodyweight) in healthy term or near-term infants seems to be a promising treatment modality for controlling hyperbilirubinaemia...
  79. ncbi Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II
    Serif Yilmaz
    Department of Gastroenterology, Dicle University, School of Medicine, Diyarbakir, Turkey
    Turk J Gastroenterol 17:62-5. 2006
    ..Based on the results of that study, we administered fenofibrate treatment to our patients for one month and analyzed serum bilirubin levels before and after this procedure. No improvement in bilirubin levels was observed in either case...
  80. ncbi Immune response to lentiviral bilirubin UDP-glucuronosyltransferase gene transfer in fetal and neonatal rats
    J Seppen
    AMC Liver Center, 1105 BK Amsterdam, The Netherlands
    Gene Ther 13:672-7. 2006
    ..Our results indicate that fetal and neonatal gene therapy with immunogenic proteins such as UGT1A1 does not necessarily lead to tolerization...
  81. ncbi Liver after hepatocyte transplantation for liver-based metabolic disorders in children
    Alberto Quaglia
    Institute of Liver Studies, King s College Hospital and King s College London School of Medicine, London, UK
    Cell Transplant 17:1403-14. 2008
    ..Further studies are needed to monitor donor hepatocytes in vivo, to quantify better the efficacy of the procedure and to find ways of improving engraftment and function...
  82. ncbi Hepatocyte transplantation for liver-based metabolic disorders
    Anil Dhawan
    Paediatric Liver Service, King s College Hospital, Denmark Hill, London, SE5 9RS, UK
    J Inherit Metab Dis 29:431-5. 2006
    ..Hepatocytes derived from stem cells could provide alternative sources of cells in the future...
  83. ncbi Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene
    F Petit
    Clin Genet 69:525-7. 2006
  84. ncbi Successful liver transplantation of two brothers with crigler-najjar syndrome type 1 using a single cadaveric organ
    Rolf Schauer
    Department of Surgery, Klinikum Grosshadern, University of Munich, 81377 Munich, Germany
    Transplantation 73:67-9. 2002
    ..Therefore, orthotopic liver transplantation in CNS1 patients should be performed early enough to avoid irreversible brain damage, i.e., as a prophylactic procedure...
  85. ncbi Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type I
    M L Kulkarni
    Indian Pediatr 40:1209-10. 2003
  86. ncbi A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1
    Yoshihiro Maruo
    Department of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan
    J Pediatr Gastroenterol Nutr 37:627-30. 2003
  87. ncbi Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene
    Jeanne Francoual
    Hum Mutat 19:570-1. 2002
  88. ncbi The effect of zinc salts on serum bilirubin levels in hyperbilirubinemic rats
    Libor Vitek
    Institute of Clinical Biochemistry and Laboratory Diagnostics and 4th Department of Internal Medicine, 1st Medical Faculty, Charles University of Prague, U nemocnice 2, Praha 2, 128 08, Czech Republic
    J Pediatr Gastroenterol Nutr 40:135-40. 2005
    ..In the present study the authors investigated the effect of oral administration of zinc salts on serum bilirubin levels in hyperbilirubinemic rats...
  89. pmc Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector
    Gabriele Toietta
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 102:3930-5. 2005
    ..We conclude that complete, long-term correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome can be achieved with one injection of HD-Ad vector and negligible chronic toxicity...
  90. ncbi A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1
    Baljit S Sappal
    Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Mol Genet Metab 75:134-42. 2002
    ..This resulted in deletion of the first 7 nucleotides of exon 5, causing a frameshift and premature truncation of UGT1A1, with consequent inactivation of the enzyme...
  91. ncbi A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II
    J Seppen
    Department of Gastrointestinal and Liver Diseases, Academic Medical Centre, Amsterdam, The Netherlands
    FEBS Lett 390:294-8. 1996
    ..The mutant protein was expressed with 0.5% efficiency, as compared to wild type. Mutant and wild type mRNAs were translated in vitro. Wild type transferase is processed by microsomes, no processing of the mutant protein was observed...
  92. ncbi Effects of luminal nutrients and small bowel transplants on congenital indirect hyperbilirubinemia
    A A Burgos
    Department of Surgery, Tulane University School of Medicine, New Orleans, Louisiana 70112, USA
    J Surg Res 69:87-93. 1997
    ..4 +/- 0.3 to 2.5 +/- 0.5 mg bilirubin conjugated/mg tissue/hr. Luminal fats and bile salts appear to augment enzyme-induced bilirubin conjugation in heterotopic jejunal transplant recipients...
  93. ncbi Crigler-Najjar type II disease inheritance: a family study
    P Labrune
    , , Clamart, France
    J Inherit Metab Dis 12:302-6. 1989
    ..The second infant of this couple was affected by the same disease and was treated with success by phenobarbital...
  94. pmc Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I
    M C Rosatelli
    Instituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Sardinia, Italy
    J Med Genet 34:122-5. 1997
    ..All but two heterozygotes for the AF170 mutation showed normal serum bilirubin levels. These two subjects were also heterozygous for the sequence variation A(TA)7TAA in the promoter region of the UGT1A gene...
  95. ncbi Successful gene therapy of the Gunn rat by in vivo neonatal hepatic gene transfer using murine oncoretroviral vectors
    Marta Bellodi-Privato
    Biothérapies Hépatiques, INSERM CIC 04, CHU Hotel Dieu, 44093 Nantes Cedex 01, France
    Hepatology 42:431-8. 2005
    ..In conclusion, complete and permanent correction of hyperbilirubinemia in newborn Gunn rats using retroviral vectors can be obtained, paving the way for future gene therapy for CN1...
  96. ncbi Threshold concentration of unbound bilirubin to induce neurological deficits in a patient with type I Crigler-Najjar syndrome
    H Ihara
    Department of Laboratory Medicine, Toho University, Ohashi Hospital, School of Medicine, Tokyo, Japan
    Ann Clin Biochem 36:347-52. 1999
    ..The upper limit of unbound bilirubin in such an older patient was nearly the same as that reported for newborns...
  97. ncbi Other genetic liver diseases in children
    Florence Lacaille
    Hopital Necker Enfants Malades, Hepatogastroenterology nutrition unit, 149, rue de Sevres, 75015 Paris, France
    Clin Res Hepatol Gastroenterol 36:301-3. 2012
    ..Gilbert disease is frequent and benign. Crigler-Najjar syndrome is rare, severe, and may be an indication for liver or liver-cell transplantation...
  98. ncbi Liver transplantation in Crigler-Najjar syndrome type I disease
    Zhen Hua Tu
    Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Key Laboratory of Combined Multi organ Transplantation, Ministry of Public Health and Key Laboratory of Organ Transplantation of Zhejiang Province, Hangzhou 310003, China
    Hepatobiliary Pancreat Dis Int 11:545-8. 2012
    ..Crigler-Najjar syndrome type I (CNS I) is a very rare autosomal recessive inherited disease that liver transplantation can properly deal with...
  99. pmc Successful plasmapheresis for acute and severe unconjugated hyperbilirubinemia in a child with crigler najjar type I syndrome
    Anne Laure Sellier
    APHP, Service de Nephrologie Pediatrique, Hopital Robert Debre, boulevard Serrurier, 75019, Paris, France
    JIMD Rep 2:33-6. 2012
    ..55. Following the acute episode of very severe unconjugated hyperbilirubinemia, the child recovered and neurological examination was unchanged, thus suggesting that plasmapheresis possibly prevented further worsening of kernicterus...
  100. ncbi Monogenic diseases that can be cured by liver transplantation
    Stefano Fagiuoli
    Gastroenterology and Transplant Hepatology, Ospedale Papa Giovanni XXIII, Bergamo, Italy
    J Hepatol 59:595-612. 2013
    ....
  101. ncbi Xenobiotic nuclear receptor-mediated regulation of UDP-glucuronosyl-transferases
    J Zhou
    Center for Pharmacogenetics and Department of Pharmaceutical Sciences, University of Pittsburgh School of Pharmacy, 656 Salk Hall, Pittsburgh, PA 15261, USA
    Curr Drug Metab 6:289-98. 2005
    ..Therefore, elucidating UGT regulation by nuclear receptors has broader significance in understanding UGT's function in various physiological and patho-physiological conditions...

Research Grants13

  1. Deriving hepatocytes from disease specific iPS to treat metabolic liver disorders
    Namita Roy-Chowdhury; Fiscal Year: 2013
    ....
  2. MR Spectroscopy to Evaluate Liver Repopulation by Transplanted Hepatocytes
    Chandan Guha; Fiscal Year: 2009
    ..In this proposal we propose to develop a non -invasive MR Spectroscopic Imaging (MRSI) for the detection of transplanted hepatocytes expressing brain isozyme of cratine kinase (CK-B) as a transgene reporter. ..
  3. Bilirubin and Photobilirubin: Metabolism & Exretion
    Antony McDonagh; Fiscal Year: 2005
    ..The work will lead to safer more effective treatment of familial hyperbilirubinemia and jaundice in the newborn. ..
  4. Neonatal Phototherapy / Bilirubin Excretion
    DAVID LIGHTNER; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  5. GENE EXPRESIION WITH ADENOVIRUS-MEDIATED TRANSFER
    Frederick Askari; Fiscal Year: 2001
    ..The results obtained in this model should prove valuable to the development of liver directed gene therapy for other genetic and acquired diseases. ..
  6. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCORONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2006
    ..abstract_text> ..
  7. IMMUNE RESPONSE TO ADENOVIRAL GENE TRANSFER
    Frederick Askari; Fiscal Year: 2000
    ..The results obtained in this model should prove valuable to the development of liver directed gene therapy for other genetic and acquired diseases. ..
  8. INHERITED DISORDERS OF BILIRUBIN GLUCURONIDATION
    Jayanta Roy Chowdhury; Fiscal Year: 1991
    ....
  9. HDAd-mediated gene therapy for hemophilia B
    Nicola Brunetti Pierri; Fiscal Year: 2009
    ..abstract_text> ..
  10. GENE THERAPY FOR INHERITED JAUNDICE
    Jayanta Roy Chowdhury; Fiscal Year: 2007
    ..abstract_text> ..
  11. DEFECTS OF DRUG METABOLISM IN LABORATORY ANIMALS
    Michael Court; Fiscal Year: 1999
    ....
  12. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 2007
    ..abstract_text> ..
  13. Muscle-directed gene therapy for Crigler-Najjar Syndrome
    ISTVAN DANKO; Fiscal Year: 2005
    ..effects of gene therapy on chronic bilirubin toxicity (renal tubular damage) will be studied. These studies will provide proof-of-concept data for this gene therapy approach. ..