CBLC

Summary

Gene Symbol: CBLC
Description: Cbl proto-oncogene C
Alias: CBL-3, CBL-SL, RNF57, E3 ubiquitin-protein ligase CBL-C, Cas-Br-M (murine) ecotropic retroviral transforming sequence c, Cas-Br-M (murine) ectropic retroviral transforming sequence c, Cbl proto-oncogene C, E3 ubiquitin protein ligase, Cbl proto-oncogene, E3 ubiquitin protein ligase C, RING finger protein 57, RING-type E3 ubiquitin transferase CBL-C, SH3-binding protein CBL-3, SH3-binding protein CBL-C, signal transduction protein CBL-C
Species: human

Top Publications

  1. ncbi cbl-3: a new mammalian cbl family protein
    M M Keane
    Genetics Department, Medicine Branch, National Cancer Institute, Bethesda Naval Hospital, Maryland 20889, USA
    Oncogene 18:3365-75. 1999
  2. ncbi Comparative genomic organization of the cbl genes
    Marion M Nau
    Genetics Branch, Center for Cancer Research, National Cancer Institute, Building 8, Room 5101, National Naval Medical Center, Bethesda, MD 20889, USA
    Gene 308:103-13. 2003
  3. ncbi Regulation of ubiquitin protein ligase activity in c-Cbl by phosphorylation-induced conformational change and constitutive activation by tyrosine to glutamate point mutations
    C Kenneth Kassenbrock
    Department of Pathology, University of Colorado Health Sciences Center, 4200 E Ninth Avenue, Denver, CO 80262, USA
    J Biol Chem 279:28017-27. 2004
  4. pmc CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction
    Cynthia C Tsui
    Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48109 0680, USA
    J Neurosci 28:8789-800. 2008
  5. pmc The N terminus of Cbl-c regulates ubiquitin ligase activity by modulating affinity for the ubiquitin-conjugating enzyme
    Philip E Ryan
    Laboratory of Cellular and Molecular Biology, Center for Cancer Research, NCI, National Institutes of Health, Bethesda, MD 20892, USA
    J Biol Chem 285:23687-98. 2010
  6. pmc Cbl-c ubiquitin ligase activity is increased via the interaction of its RING finger domain with a LIM domain of the paxillin homolog, Hic 5
    Philip E Ryan
    Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e49428. 2012
  7. ncbi cbl-b inhibits epidermal growth factor receptor signaling
    S A Ettenberg
    Genetics Department, Medicine Branch, National Cancer Institute, Bethesda Naval Hospital, Maryland 20889, USA
    Oncogene 18:1855-66. 1999
  8. ncbi Cbl-c suppresses v-Src-induced transformation through ubiquitin-dependent protein degradation
    Minsoo Kim
    Division of Oncology, Department of Cancer Biology, The Institute of Medical Science, The University of Tokyo, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
    Oncogene 23:1645-55. 2004
  9. ncbi Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)
    Abigail B Gradinger
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 28:1045. 2007
  10. doi Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
    Jordan P Lerner-Ellis
    Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada
    Hum Mutat 30:1072-81. 2009

Research Grants

  1. Survival and growth-promotion mechanisms of the GDNF family ligands (GFLs)
    BRIAN ANTHONY PIERCHALA; Fiscal Year: 2012
  2. RUMA V BANERJEE; Fiscal Year: 2016
  3. GDNF and Ret are critical for glomerular development, maintenance, and protection
    CYNTHIA TSUI; Fiscal Year: 2013
  4. C CBL IN MODULATION OF CELL ADHESION AND MORPHOLOGY
    Alexander Tsygankov; Fiscal Year: 2005
  5. PROSTAGLANDINS AND COLON ADENOMAS
    Henry Lin; Fiscal Year: 2002
  6. Prostaglandin D and skin cancer prevention
    Henry Lin; Fiscal Year: 2008

Scientific Experts

Detail Information

Publications119 found, 100 shown here

  1. ncbi cbl-3: a new mammalian cbl family protein
    M M Keane
    Genetics Department, Medicine Branch, National Cancer Institute, Bethesda Naval Hospital, Maryland 20889, USA
    Oncogene 18:3365-75. 1999
    ..These data demonstrate that cbl-3, a novel mammalian cbl protein, is a regulator of EGFR mediated signal transduction...
  2. ncbi Comparative genomic organization of the cbl genes
    Marion M Nau
    Genetics Branch, Center for Cancer Research, National Cancer Institute, Building 8, Room 5101, National Naval Medical Center, Bethesda, MD 20889, USA
    Gene 308:103-13. 2003
    ..Humans and mice have three cbl genes (c-cbl,(1) cblb, and cblc) which show remarkable conservation of the intron/exon structure over the region of the genes which encode the ..
  3. ncbi Regulation of ubiquitin protein ligase activity in c-Cbl by phosphorylation-induced conformational change and constitutive activation by tyrosine to glutamate point mutations
    C Kenneth Kassenbrock
    Department of Pathology, University of Colorado Health Sciences Center, 4200 E Ninth Avenue, Denver, CO 80262, USA
    J Biol Chem 279:28017-27. 2004
    ..However, Tyr-371 point mutants of c-Cbl are still able to undergo phosphorylation-induced E3 activation, and we show that Tyr-368 can also be phosphorylated in addition to Tyr-371, and contributes to activation...
  4. pmc CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction
    Cynthia C Tsui
    Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48109 0680, USA
    J Neurosci 28:8789-800. 2008
    ..CD2AP and Cbl-3, therefore, constitute a checkpoint that controls the extent of Ret downregulation and, thereby, the sensitivity of neurons to GFLs...
  5. pmc The N terminus of Cbl-c regulates ubiquitin ligase activity by modulating affinity for the ubiquitin-conjugating enzyme
    Philip E Ryan
    Laboratory of Cellular and Molecular Biology, Center for Cancer Research, NCI, National Institutes of Health, Bethesda, MD 20892, USA
    J Biol Chem 285:23687-98. 2010
    ..These data suggest that the N terminus of Cbl-c contributes to the binding to the E2 and that phosphorylation of Tyr-341 leads to a decrease in affinity and an increase in the E3 activity of Cbl-c...
  6. pmc Cbl-c ubiquitin ligase activity is increased via the interaction of its RING finger domain with a LIM domain of the paxillin homolog, Hic 5
    Philip E Ryan
    Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e49428. 2012
    ..This is the first demonstration of enhancement of ubiquitin ligase activity of a RING finger ubiquitin ligase by the direct interaction of a LIM zinc coordinating domain...
  7. ncbi cbl-b inhibits epidermal growth factor receptor signaling
    S A Ettenberg
    Genetics Department, Medicine Branch, National Cancer Institute, Bethesda Naval Hospital, Maryland 20889, USA
    Oncogene 18:1855-66. 1999
    ..These data demonstrate that cbl-b inhibits EGF-induced cell growth and that cbl-b and c-cbl have distinct roles in EGF mediated signaling...
  8. ncbi Cbl-c suppresses v-Src-induced transformation through ubiquitin-dependent protein degradation
    Minsoo Kim
    Division of Oncology, Department of Cancer Biology, The Institute of Medical Science, The University of Tokyo, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
    Oncogene 23:1645-55. 2004
    ..Therefore, activated Src may be a direct target of Cbl-c in vivo. Our results suggest that Cbl and Cbl-b suppress v-Src-induced transformation through mechanisms distinct from that of Cbl-c...
  9. ncbi Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)
    Abigail B Gradinger
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 28:1045. 2007
    ..mut complementation group) and from defects in the synthesis of the MCM cofactor adenosylcobalamin (cblA, cblB, cblC, cblD, and cblF groups)...
  10. doi Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
    Jordan P Lerner-Ellis
    Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada
    Hum Mutat 30:1072-81. 2009
    Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B(12) (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. MMACHC was sequenced from the gDNA of 118 cblC individuals...
  11. pmc Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product
    Luciana Hannibal
    Department of Cell Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Mol Genet Metab 97:260-6. 2009
    The MMACHC gene product of the cblC complementation group, referred to as the cblC protein, catalyzes the in vitro and in vivo decyanation of cyanocobalamin (vitamin B(12))...
  12. doi Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy
    Daniele Frattini
    Child Neurology Unit, Arcispedale Santa Maria Nuova, 42100 Reggio Emilia, Italy
    Pediatr Neurol 43:135-8. 2010
    Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation...
  13. ncbi Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies
    D Rabier
    Laboratoire de Biochimie Medicale B, Hopital Necker Enfants Malades, Paris, France
    Prenat Diagn 16:623-8. 1996
    ..HHH (hyperornithinaemia, hyperammonaemia and homocitrullinaemia) syndrome, cobalamin metabolism disorders (CblC or CblD), and sulphite oxidase deficiency...
  14. pmc Cbl-3-deficient mice exhibit normal epithelial development
    Emily K Griffiths
    Department of Medical Biophysics, Ontario Cancer Institute, University of Toronto, Toronto, Ontario, Canada M5G 2C1
    Mol Cell Biol 23:7708-18. 2003
    ..Moreover, Cbl-3 was not required for attenuation of epidermal growth factor-stimulated Erk activation in primary keratinocytes. Thus, Cbl-3 is dispensable for normal epithelial development and function...
  15. doi Causes of and diagnostic approach to methylmalonic acidurias
    B Fowler
    Metabolic Unit, University Children s Hospital, Roemergasse 8, Basel, CH 4058, Switzerland
    J Inherit Metab Dis 31:350-60. 2008
    ..The cblC, cblD and cblF complementation groups are associated with defective methyl-cobalamin synthesis as well...
  16. ncbi A direct interaction between the adaptor protein Cbl-b and the kinase zap-70 induces a positive signal in T cells
    Z Zhang
    Division of Cell Biology La Jolla Institute for Allergy and Immunology 10355 Science Center Drive San Diego California 92121 USA
    Curr Biol 9:203-6. 1999
    ..Unlike the proposed role of Cbl as a negative regulator, our results suggest that the Cbl homologue Cbl-b has a positive role in T-cell signaling, most likely via a direct interaction with the upstream kinase Zap-70...
  17. ncbi Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate
    Cary O Harding
    Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239 2998, USA
    J Perinatol 23:384-6. 2003
    ..with clinical features suggesting sepsis (lethargy, obtundation) could impede the correct diagnosis of cobalamin C (cblC) disorder...
  18. ncbi Acquired and inherited disorders of cobalamin and folate in children
    V Michael Whitehead
    The Hematology Service, Montreal Children s Hospital and the McGill University Montreal Children s Hospital Research Institute of the McGill University Health Center, Montreal, QC, Canada
    Br J Haematol 134:125-36. 2006
    ..affecting adenosylcobalamin synthesis (cblA and cblB), methionine synthase function (cblE and cblG) or both (cblC, cblD and cblF)...
  19. doi Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type
    Isabelle De Bie
    Medical Genetics Division, Department of Pediatrics, Universite de Montreal, Centre hospitalier universitaire Sainte Justine, 3175 Cote Sainte Catherine, Montreal, Québec H3T 1C5 Canada
    Prenat Diagn 29:266-70. 2009
    To report the prenatal presentation with dilated cardiomyopathy of methylmalonic aciduria and homocystinuria, cblC type [cobalamin C (cblC) deficiency] (MIM 277400).
  20. doi Structural flexibility regulates phosphopeptide-binding activity of the tyrosine kinase binding domain of Cbl-c
    Kohei Takeshita
    Institute for Protein Research, Osaka University, Suita, Osaka 565 0871, Japan
    J Biochem 152:487-95. 2012
    ....
  21. doi Treatment of inherited homocystinurias
    Manuel Schiff
    Reference Center for Inherited Metabolic Diseases, APHP and Inserm U676, Hopital Robert Debre, Paris, France
    Neuropediatrics 43:295-304. 2012
    ..In the latter group, remethylation disorders of homocysteine to methionine (chiefly CblC defect and 5,10-methylenetetrahydrofolate reductase [MTHFR] deficiency) are by far the most frequently encountered ..
  22. doi Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type
    James D Weisfeld-Adams
    Departments of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA Electronic address
    Mol Genet Metab 110:241-7. 2013
    Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC disease), but neurodevelopmental phenotypes in cblC have not previously been systematically studied...
  23. doi Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type
    Robert Gizicki
    Department of Ophthalmology, Centre hospitalier universitaire Sainte Justine, Universite de Montreal, Montreal, Canada
    Ophthalmology 121:381-6. 2014
    To describe the long-term ophthalmologic outcomes of patients with methylmalonic aciduria and homocystinuria, cobalamin C type (cblC).
  24. pmc CD2-associated protein (CD2AP) enhances casitas B lineage lymphoma-3/c (Cbl-3/c)-mediated Ret isoform-specific ubiquitination and degradation via its amino-terminal Src homology 3 domains
    Gina N Calco
    From the Department of Biologic and Materials Sciences, The University of Michigan School of Dentistry, Ann Arbor, Michigan 48109 and
    J Biol Chem 289:7307-19. 2014
    ..Taken together, these results suggest that only the SH3 domains of CD2AP were necessary to enhance the E3 ligase activity of Cbl-3/c toward Ret51. ..
  25. ncbi Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation
    Mustafa Kilic
    Division of Hacettepe University Faculty of Medicine, Ankara, Turkey, and 3University Children s Hospital, Basel, Switzerland
    Turk J Pediatr 55:633-6. 2013
    Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation...
  26. doi First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type
    Yupeng Liu
    Peking University First Hospital, Beijing 100034, China
    Brain Dev 37:286-91. 2015
    Combined methylmalonic aciduria (MMA) and homocystinuria, cblC type, is the most common MMA in Mainland China...
  27. doi The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans
    Marianna Caterino
    Fondazione SDN IRCCS, Naples, Italy
    J Inherit Metab Dis 38:969-79. 2015
    Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism...
  28. pmc Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
    Martina Huemer
    Division of Metabolism and Children s Research Center, University Children s Hospital Zurich, Zurich, Switzerland
    J Inherit Metab Dis 38:1007-19. 2015
    ..Early treatment is clearly of advantage for patients with the late-onset cblC defect...
  29. doi Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations
    Simone Martinelli
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Hum Mutat 36:787-96. 2015
    ..Finally, we excluded a major contribution of two additional members of the CBL family, CBLB and CBLC, to NS and related disorders.
  30. pmc Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC
    Yanan Zong
    Center of Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People s Republic of China
    BMC Med Genet 16:48. 2015
    ..Both genetic and biochemical approach have been established to diagnose children and fetuses with cblC deficiency, while in China there is no report of prenatal genetic diagnosis of cblC deficiency...
  31. 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
    Cobalamin C (cblC) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia...
  32. pmc The Ubiquitin Ligase CBLC Maintains the Network Organization of the Golgi Apparatus
    Wan Yin Lee
    Institute of Molecular and Cell Biology, Singapore, Singapore Department of Biochemistry, National University of Singapore, Singapore, Singapore
    PLoS ONE 10:e0138789. 2015
    ..Here we find in an image-based RNAi screen that depletion of the ubiquitin-ligase CBLC induces Golgi fragmentation. Depletions of the close homologues CBL and CBLB do not induce any visible defects...
  33. pmc Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#
    Jun Wang
    Department of Neurology, Capital Institute of Pediatrics Beijing, PR China
    Int J Clin Exp Pathol 8:9337-41. 2015
    Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin...
  34. ncbi Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia
    Cristy A Ku
    a Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA
    Ophthalmic Genet 37:404-414. 2016
    Cobalamin C disease (cblC), which leads to methylmalonic acidemia with homocystinuria, is the most common inherited disorder of vitamin B12 metabolism...
  35. pmc Successful intrauterine treatment of a patient with cobalamin C defect
    Friedrich K Trefz
    University Children s Hospital, Department of Metabolism and Pediatric Medicine, Heidelberg, Germany
    Mol Genet Metab Rep 6:55-9. 2016
    Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects cobalamin metabolism...
  36. pmc Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity
    Bodo B Beck
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Pediatr Nephrol . 2016
    Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B12) deficiency...
  37. ncbi Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
    E Maines
    Inherited Metabolic Diseases Unit, Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
    JIMD Rep . 2016
    ..Moreover, our experience may be translated to other inherited metabolic disorders, such as cobalamin C (cblC) disease, which may require daily parenteral drug administration.
  38. pmc Methylmalonic Acidemia Diagnosis by Laboratory Methods
    Keyfi Fatemeh
    Immunobiochemistry Lab, Immunology Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Pardis Clinical and Genetic Laboratory, Mashhad, Iran
    Rep Biochem Mol Biol 5:1-14. 2016
    ..mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase...
  39. doi Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening
    Ashley M Whitaker
    a Department of Child and Adolescent Psychiatry and Behavioral Sciences, The Children s Hospital of Philadelphia CHOP, Philadelphia, Pennsylvania, USA
    Appl Neuropsychol Child . 2017
    Cobalamin C (CblC) disease is the most common inborn error of cobalamin metabolism and recent data has indicated a higher prevalence among children of Hispanic heritage in particular...
  40. doi Glutathione metabolism in cobalamin deficiency type C (cblC)
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio, 4 00165, Rome, Italy
    J Inherit Metab Dis 37:125-9. 2014
    Methylmalonic aciduria with homocystinuria, cblC defect, is the most frequent disorder of vitamin B12 metabolism...
  41. ncbi Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport
    Chantal F Morel
    Department of Human Genetics, McGill University, Montreal, Que, Canada
    Mol Genet Metab 86:160-71. 2005
    ..We identified a total of 21 affected pregnancies (18%): cblA, 2/8; cblB, 0/5; cblC, 10/52; cblE, 2/3; cblF, 0/5; cblG, 0/5; transcobalamin deficiency, 0/2; methylmalonyl-CoA mutase (mut) deficiency, ..
  42. doi Treatment of cobalamin C (cblC) deficiency during pregnancy
    Catherine Brunel-Guitton
    Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine and Université de Montréal, 3175 chemin de la Cote Sainte Catherine, Montreal, Quebec, Canada H3T 1C5
    J Inherit Metab Dis 33:S409-12. 2010
    To report the successful pregnancy of a woman with methylmalonic acidemia and hyperhomocysteinemia, cblC type [cobalamin C (cblC) deficiency] (MIM 277400).
  43. doi Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China
    Fei Wang
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    J Inherit Metab Dis 33:S435-42. 2010
    The most common inborn error of cobalamin (cbl) metabolism in China is the cblC type characterized by combined methylmalonic acidemia and hyperhomocysteinemia...
  44. pmc An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
    Hung Chun Yu
    Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA
    Am J Hum Genet 93:506-14. 2013
    ..The most common inborn error of cobalamin metabolism, combined methylmalonic acidemia and hyperhomocysteinemia, cblC type, is caused by mutations in MMACHC...
  45. doi Cognitive and social profiles in two patients with cobalamin C disease
    M H Beauchamp
    Murdoch Children s Research Institute, Australian Centre for Child Neuropsychological Studies, Melbourne, Australia
    J Inherit Metab Dis 32:S327-34. 2009
    Cobalamin C (cblC) disease, an inborn error of vitamin B(12) metabolism, results in neurometabolic, neurochemical and neuroanatomical changes. Little is known of the long-term effects of the disorder on cognition and behaviour in children...
  46. pmc The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning
    Carmen Gherasim
    Department of Biological Chemistry, University of Michigan Medical Center, Ann Arbor, MI 48109 0600, USA
    Biochimie 95:1023-32. 2013
    ..with mutations in CblD, can dealkylate exogenously supplied methylcobalamin (MeCbl), an activity catalyzed by the CblC protein, but show imbalanced intracellular partitioning of the cofactor into the MeCbl and 5'-..
  47. pmc Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease
    Pranoot Tanpaiboon
    Division of Genetics and Metabolism, Children s National Medical Center, Washington, DC, 0010, USA
    JIMD Rep 10:33-8. 2013
    Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism...
  48. pmc C-terminal truncation of a bovine B(12) trafficking chaperone enhances the sensitivity of the glutathione-regulated thermostability
    Jinju Jeong
    School of Biotechnology, Yeungnam University, Gyeongsan 712 749, Korea
    BMB Rep 46:169-74. 2013
    ..In this study, we examined the thermostability of the bovine CblC truncated at the C-terminal variable region (t-bCblC) and its regulation by glutathione...
  49. ncbi [Combined methylmalonic aciduria and homocysteinemia with hydrocephalus as an early presentation: a case report]
    Li li Liu
    Department of Pediatrics, Peking University First Hospital, Beijing, China
    Zhongguo Dang Dai Er Ke Za Zhi 15:313-5. 2013
    ..aciduria and homocysteinemia levels, combined methylmalonic aciduria and homocysteinemia was confirmed, presenting CblC defect (gene mutations homozygous for c.609G>A)...
  50. doi Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency
    I Vaz Matos
    Department of Neurology, Hospital Sant Joan de Déu HSJD, Barcelona, Spain
    Mol Genet Metab 109:360-5. 2013
    b>CblC deficiency produces a combination of methylmalonic aciduria (MMA) and homocystinuria (HCU), and is the most common error of cobalamin metabolism...
  51. doi Cobalamin C defect presenting with isolated pulmonary hypertension
    Francesca G Iodice
    Unit of Pediatric Cardiac Anesthesia and Intensive Care, Department of Pediatric Cardiology and Cardiac Surgery, Children s Hospital Bambino Gesu IRCCS, Rome, Italy
    Pediatrics 132:e248-51. 2013
    Cobalamin C (cblC) defect is the most common inborn error of vitamin B12 metabolism. Clinical features vary as does the severity of the disease...
  52. doi The effects of different learning environments on students' motivation for learning and their achievement
    Marlies Baeten
    Centre for Research on Professional Learning and Development, Corporate Training and Lifelong Learning, Katholieke Universiteit Leuven, Belgium
    Br J Educ Psychol 83:484-501. 2013
    ..From a self-determination theory perspective, need support is important to study because it has been associated with benefits such as autonomous motivation and achievement...
  53. doi Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency
    Martin Kömhoff
    Department of Pediatric Nephrology, Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700 RB Groningen, Netherlands
    Pediatrics 132:e540-4. 2013
    ..In 2 patients, cobalamin C (cblC) deficiency was diagnosed postmortem...
  54. ncbi [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]
    A Urbón Artero
    Servicio de Pediatria, Hospital General de Segovia, Spain
    An Esp Pediatr 56:337-41. 2002
    ..We describe the biochemical evolution and clinical course of a boy with neonatal onset CblC mutant defect...
  55. pmc CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2
    Paula Aranaz
    Department of Genetics, School of Sciences, University of Navarra, Pamplona, Spain
    Haematologica 97:1234-41. 2012
    ..frequency of CBL mutations in these diseases, we studied different regions of all CBL family genes (CBL, CBLB and CBLC) in a selected group of patients with myeloproliferative neoplasms...
  56. doi A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China
    Xianling Wang
    Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China
    J Neurol Sci 318:155-9. 2012
    Combined methylmalonic aciduria and homocystinuria, cblC type (cblC disease), is the most common inborn disorder of cobalamin metabolism...
  57. doi Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist
    Marina A Morath
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany
    Pediatr Nephrol 28:227-35. 2013
    ..Another severe renal complication of methylmalonic acidurias is the occurrence of cblC-associated infantile atypical hemolytic syndrome, which can result in acute kidney injury...
  58. doi Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects
    Eva Richard
    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biologia Molecular Severo Ochoa CSIC UAM, Departamento de Biología Molecular Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, IdiPAZ, Madrid, Spain
    J Cell Biochem 114:183-91. 2013
    ..disorders of cobalamin metabolism, particularly with methylmalonic aciduria (MMA) combined with homocystinuria cblC type...
  59. doi Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria
    Leah R Fuchs
    Ophthalmology, Mount Sinai School of Medicine, New York, New York, USA
    J AAPOS 16:370-5. 2012
    To report the ocular complications of cobalamin-C type methylmalonic aciduria with homocystinuria (cblC) in a large consecutive series of patients.
  60. doi Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism
    Wayne Mah
    Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada
    Mol Genet Metab 108:112-8. 2013
    MMACHC and MMADHC are the genes responsible for cblC and cblD defects of vitamin B(12) metabolism, respectively. Patients with cblC and cblD defects present with various combinations of methylmalonic aciduria (MMA) and homocystinuria (HC)...
  61. pmc Using an exon microarray to identify a global profile of gene expression and alternative splicing in K562 cells exposed to sodium valproate
    Xiang Zhong Zhang
    Department of Hematology, the First Affiliated Hospital of Sun Yat Sen University, Guangzhou, Guangdong 510080, PR China
    Oncol Rep 27:1258-65. 2012
    ..Among them, three alternative splicing events were selected for validation, and CBLC and TBX1 were confirmed to be alternatively spliced by semi-nested PCR...
  62. doi Leukoencephalopathies associated with disorders of cobalamin and folate metabolism
    Bridget Wilcken
    Discipline of Paediatrics, University of Sydney, Sydney, Australia
    Semin Neurol 32:68-74. 2012
    ..CblA, CblB, and CblD2), methylcobalamin (CblE, CblG, and CblD1), or both of these (CblF, CblD, and CblC)...
  63. ncbi Methionine auxotrophy in inborn errors of cobalamin metabolism
    V Garovic-Kocic
    Department of Biology, McGill University, Montreal, Quebec
    Clin Invest Med 15:395-400. 1992
    Several of the inborn errors of vitamin B12 (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase ..
  64. ncbi Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation
    F A Wijburg
    Department of Paediatrics, University Hospital of Amsterdam AMC, The Netherlands
    Eur J Pediatr 151:127-31. 1992
    ..Complementation studies revealed the presence of the cblC mutation in this patient. No treatment was initiated and the patient died at the age of 31 days...
  65. ncbi A third human CBL gene is on chromosome 19
    V Ollendorff
    U 119 INSERM, 27 Bd Lei Roure, 13009 Marseille, France
    Int J Oncol 13:1159-61. 1998
    ..Using a probe derived from an expressed sequence tag, we isolated a cosmid containing part of a new CBL gene, CBLc, related to the two characterized paralogous genes CBLa and CBLb...
  66. ncbi Activating SRC mutation in a subset of advanced human colon cancers
    R B Irby
    Department of Surgery, H Lee Moffitt Cancer Center and Research Institute, University of South Florida College of Medicine, Tampa 33612, USA
    Nat Genet 21:187-90. 1999
    ..These results provide, for the first time, genetic evidence that activating SRC mutations may have a role in the malignant progression of human colon cancer...
  67. ncbi Characterization of the mouse Cblc/Cbl3 gene
    F Fiore
    Laboratoire d Oncologie Moleculaire, U 119 INSERM, IFR57, 27 Boulevard Lei Roure, 13009 Marseille, France
    Biochem Biophys Res Commun 280:182-7. 2001
    The mouse Cblc/Cbl3 gene was cloned and characterized...
  68. ncbi Long-term outcome in treated combined methylmalonic acidemia and homocystinemia
    H C Andersson
    Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA
    Genet Med 1:146-50. 1999
    To describe the clinical and biochemical features and long-term outcome of a cohort of eight patients with methylmalonic acidemia and homocystinuria (cblC).
  69. ncbi CblC/D defect combined with haemodynamically highly relevant VSD
    M Tomaske
    Department of Pediatrics I, University Hospital, Tubingen, Germany
    J Inherit Metab Dis 24:511-2. 2001
    An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
  70. ncbi CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinases
    Iwona Szymkiewicz
    Ludwig Institute for Cancer Research, Box 595, Husargatan 3, Uppsala, S 75124, Sweden
    J Biol Chem 277:39666-72. 2002
    ..Our data reveal a common pathway utilized by Cbl and Cbl-b that may have an important and redundant function in negative regulation of ligand-activated as well as oncogenically activated RTKs in vivo...
  71. ncbi Interaction between two ubiquitin-protein isopeptide ligases of different classes, CBLC and AIP4/ITCH
    Jean Remy Courbard
    Département d Oncologie Moléculaire, U119 INSERM, 27 Boulevard Lei Roure, 13009 Marseille and Ipsogen SA, Institut Paoli Calmettes, 3009 Marseille, France
    J Biol Chem 277:45267-75. 2002
    ..Among the three CBL proteins described in humans, CBLC (CBL3) remains poorly studied...
  72. pmc Sprouty2 attenuates epidermal growth factor receptor ubiquitylation and endocytosis, and consequently enhances Ras/ERK signalling
    Esther Sook Miin Wong
    Signal Transduction Laboratory, Institute of Molecular and Cell Biology, National University of Singapore, 30 Medical Drive, Singapore 117609
    EMBO J 21:4796-808. 2002
    ..We conclude that hSpry2 potentiates EGFR signalling by specifically intercepting c-Cbl-mediated effects on receptor down-regulation...
  73. ncbi c-Cbl is involved in Met signaling in B cells and mediates hepatocyte growth factor-induced receptor ubiquitination
    Taher E I Taher
    Department of Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Immunol 169:3793-800. 2002
    ..Our findings identify c-Cbl as a negative regulator of HGF/Met signaling in B cells, mediating ubiquitination and, consequently, proteosomal degradation of Met, and suggest a role for Cbl in Met-mediated tumorigenesis...
  74. ncbi Identification and molecular analysis of cable pilus biosynthesis genes in Burkholderia cepacia
    Umadevi S Sajjan
    Division of Structural Biology and Biochemistry, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8
    Microbiology 149:961-71. 2003
    ..The authors have now cloned and sequenced four additional genes, cblB, cblC, cblD and cblS, in the pilus gene cluster...
  75. ncbi The psychosocial functioning of children and spouses of adults with ADHD
    Klaus Minde
    Department of Psychiatry, McGill University, Montreal Children s Hospital, QC, Canada
    J Child Psychol Psychiatry 44:637-46. 2003
    ..It is unclear what the impact of parental ADHD is on the day-to-day life of the rest of the family and how it contributes to the intergenerational transmission of this disorder...
  76. ncbi A conserved DpYR motif in the juxtamembrane domain of the Met receptor family forms an atypical c-Cbl/Cbl-b tyrosine kinase binding domain binding site required for suppression of oncogenic activation
    Pascal Peschard
    Department of Biochemistry, Medicine, and Oncology, McGill University, Montreal, Quebec H3A 1A1, Canada
    J Biol Chem 279:29565-71. 2004
    ..The DpYR motif is conserved in other members of the Met RTK family but is not present in previously identified c-Cbl-binding proteins, identifying DpYR as a new binding motif for c-Cbl and Cbl-b...
  77. ncbi Uncoupling of vasopressin signaling in collecting ducts from rats with CBL-induced liver cirrhosis
    Lone Brønd
    Department of Pharmacology, University of Copenhagen, DK 2200 Copenhagen N, Denmark
    Am J Physiol Renal Physiol 287:F806-15. 2004
    ..The mechanism behind AVP escape seems to involve decreased collecting duct sensitivity to AVP as a result of increased cAMP-phosphodiesterase activity...
  78. ncbi Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation
    Vincent Guigonis
    Department of Pediatric Nephrology, Hopital Armand Trousseau, Paris, France
    Am J Kidney Dis 45:588-95. 2005
    b>cblC disease is a cause of hemolytic uremic syndrome (HUS), which has been primarily described in neonates and infants with severe renal and neurological lesions.
  79. ncbi Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
    Jordan P Lerner-Ellis
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada, H3G 1B1
    Nat Genet 38:93-100. 2006
    Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases...
  80. pmc Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism
    Randy J Chandler
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 89:64-73. 2006
    ..acidemia cobalamin A complementation group (mmaa-1), co(I)balamin adenosyltransferase (mmab-1), MMACHC (cblc-1), methylmalonyl-CoA epimerase (mce-1) and methylmalonyl-CoA mutase (mmcm-1) were identified...
  81. ncbi Regulation of peripheral T cell tolerance by the E3 ubiquitin ligase Cbl-b
    Stefanie Loeser
    IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Dr Bohrgasse 3, A 1030 Vienna, Austria
    Semin Immunol 19:206-14. 2007
    ..Modulation of Cbl-b might provide us with a unique opportunity for future immune treatment of human disorders such as autoimmunity, immunodeficiency, or cancer...
  82. ncbi Late-onset cobalamin-C disorder: a challenging diagnosis
    Tawfeg I Ben-Omran
    Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada
    Am J Med Genet A 143:979-84. 2007
    Cobalamin-C (cblC) disease is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism...
  83. ncbi Clinical validity of the lung cancer biomarkers identified by bioinformatics analysis of public expression data
    Bumjin Kim
    Division of Life and Pharmaceutical Sciences, Ewha Womans University, Seoul, Korea
    Cancer Res 67:7431-8. 2007
    ..After extensive statistical analyses, seven genes (CBLC, CYP24A1, ALDH3A1, AKR1B10, S100P, PLUNC, and LOC147166) were identified as potential diagnostic markers...
  84. ncbi Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
    Sandra G Heil
    Department of Pediatrics, Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Inherit Metab Dis 30:811. 2007
    ..Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria...
  85. ncbi Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
    Anne Chun Hui Tsai
    Division of Clinical Genetics and Metabolism, The Children s Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA
    Am J Med Genet A 143:2430-4. 2007
    ..woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene...
  86. ncbi Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder
    Ajay P Sharma
    Department of Pediatrics, University of Western Ontario, London, ON, Canada
    Pediatr Nephrol 22:2097-103. 2007
    ..A Medline search identified seven previously reported D- cases of HUS secondary to cobalamin C (cblC) disease presenting in infancy...
  87. doi Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
    Celia Nogueira
    Genetics Medical Center, INSA, Oporto, Portugal
    Mol Genet Metab 93:475-80. 2008
    Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12). The recent identification of the disease gene, MMACHC, has permitted preliminary genotype-phenotype correlations...
  88. doi Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders
    M C Gaillard
    Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
    Klin Monbl Augenheilkd 225:491-4. 2008
    Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities.
  89. doi Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type
    Christina Gerth
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada
    J AAPOS 12:591-6. 2008
    To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene.
  90. pmc Enamel defects and salivary methylmalonate in methylmalonic acidemia
    C W Bassim
    National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892 1851, USA
    Oral Dis 15:196-205. 2009
    ..To characterize enamel defects in patients with methylmalonic acidemia (MMA) and cobalamin (cbl) metabolic disorders and to examine salivary methylmalonate levels in MMA...
  91. doi [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria]
    Hui Tang
    Depardment of Clinical Experiment Center, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, 510632 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:62-5. 2009
    To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria.
  92. doi Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence
    Amanda D Loewy
    Department of Human Genetics, McGill University, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Ave, Room L3 319, Montreal, Que, Canada H3G 1A4
    Mol Genet Metab 96:261-7. 2009
    ..MeWo-LC1 has a cellular phenotype identical to that of cells from patients with the cblC inborn error of cobalamin metabolism, with decreased synthesis of cobalamin coenzymes and decreased activity of the ..
  93. doi Epstein-barr virus-induced expression of a novel human vault RNA
    Constanze Nandy
    Innsbruck Biocenter, Division of Genomics and RNomics, Innsbruck Medical University, Innsbruck, Austria
    J Mol Biol 388:776-84. 2009
    ..Importantly, CBL-3 co-sediments with intact vault particles in density gradients of various human cell lines, thus strongly indicating this ncRNA as a novel, fourth vault-complex-associated RNA...
  94. ncbi Abnormal mammary gland development in MMTV-CBLC transgenic mouse
    Frédéric Fiore
    Marseille Cancer Research Center, UMR891 Inserm, 27 Bd Lei Roure, 13009 Marseille, France
    In Vivo 23:225-8. 2009
    ..b>CBLC, the third member of the CBL family, is expressed in epithelial tissues, including the mammary gland...
  95. ncbi [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]
    Fei Wang
    Department of Pediatric Endocrinologic, Genetic and Metabolic Diseases, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
    Zhonghua Er Ke Za Zhi 47:189-93. 2009
    Methylmalonic acidemia complicated with homocysteinemia, cblC type, is the most common inborn error of cobalamin metabolism. The gene MMACHC (OMIM 277400) is located on chromosome 1p34.1 with four coding exons and a 5th non-coding exon...
  96. pmc Profiling of oxidative stress in patients with inborn errors of metabolism
    Peter J Mc Guire
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 98:173-80. 2009
    ..Of note, patients with cobalamin disorders (i.e., CblB and CblC) consistently had the highest levels of oxidative damage markers...
  97. doi Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria
    D S Froese
    Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Alta, Canada
    Mol Genet Metab 98:338-43. 2009
    Patients with the cblC vitamin B(12) (cobalamin, cbl) disorder are defective in the intracellular synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria and methylmalonic aciduria...
  98. doi Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)
    Eva Richard
    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa SO Universidad Autónoma de Madrid UAM Consejo Superior de Investigaciones Científicas CSIC, Universidad Autonoma de Madrid, Campus de Cantoblanco, Madrid, Spain
    Hum Mutat 30:1558-66. 2009
    Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B(12) metabolism...
  99. doi High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria
    Laurie E Profitlich
    Mount Sinai School of Medicine, Department of Pediatrics, Division of Pediatric Cardiology, NY 10029, USA
    Mol Genet Metab 98:344-8. 2009
    To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria and homocystinuria (cblC), an inborn error of cobalamin (vitamin B12) metabolism resulting in accumulation of ..
  100. pmc A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins
    Jihoe Kim
    Department of Biological Chemistry, University of Michigan Medical Center, Ann Arbor, Michigan 48109 5066, USA
    J Biol Chem 284:33418-24. 2009
    ..This glutathione transferase activity of MMACHC is reminiscent of the methyltransferase chemistry catalyzed by the vitamin B(12)-dependent methionine synthase and is impaired in the cblC group of inborn errors of cobalamin disorders.
  101. pmc Hydroxocobalamin dose escalation improves metabolic control in cblC
    N Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Bethesda, MD 20892, USA
    J Inherit Metab Dis 32:728-31. 2009
    Cobalamin C (cblC), a combined form of methylmalonic acidaemia and hyperhomocysteinaemia, is recognized as the most frequent inborn error of intracellular cobalamin metabolism...

Research Grants6

  1. Survival and growth-promotion mechanisms of the GDNF family ligands (GFLs)
    BRIAN ANTHONY PIERCHALA; Fiscal Year: 2012
    ....
  2. RUMA V BANERJEE; Fiscal Year: 2016
    ..the following specific aims: (i) elucidate the cytoplasmic pathway that uses two newly discovered proteins, CblC and CblD, and converts incoming alkyl- and cyano-cobalamins into a common intermediate that can be partitioned into ..
  3. GDNF and Ret are critical for glomerular development, maintenance, and protection
    CYNTHIA TSUI; Fiscal Year: 2013
    ..The goal of our proposal Is to understand these mechanisms and to discover molecules controlling the growth and health of the podocyte with the intent that this knowledge will facilitate the development of new therapeutic strategies...
  4. C CBL IN MODULATION OF CELL ADHESION AND MORPHOLOGY
    Alexander Tsygankov; Fiscal Year: 2005
    ..4. To determine the effect of c-Cbl overexpression on adhesion and transformation potential of hematopoietic cells transformed with Bcr-Abl, a constitutively active PTK, which causes chronic myeologenous leukemia. ..
  5. PROSTAGLANDINS AND COLON ADENOMAS
    Henry Lin; Fiscal Year: 2002
    ..The proposed study should improve understanding of the mechanism of prevention by NSAIDs and may lead to new targets for chemopreventive agents. ..
  6. Prostaglandin D and skin cancer prevention
    Henry Lin; Fiscal Year: 2008
    ..Niacin as a booster of PGD2 may emerge as an agent to be studied for chemoprevention of skin cancer. [unreadable] [unreadable] [unreadable]..