Genomes and Genes
Gene Symbol: CBLC
Description: Cbl proto-oncogene C, E3 ubiquitin protein ligase
Alias: CBL-3, CBL-SL, RNF57, Cas-Br-M (murine) ecotropic retroviral transforming sequence c, Cas-Br-M (murine) ectropic retroviral transforming sequence c, Cbl proto-oncogene, E3 ubiquitin protein ligase C, RING finger protein 57, SH3-binding protein CBL-3, SH3-binding protein CBL-C, signal transduction protein CBL-C
- The N terminus of Cbl-c regulates ubiquitin ligase activity by modulating affinity for the ubiquitin-conjugating enzymePhilip 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...
- Comparative genomic organization of the cbl genesMarion 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 ..
- cbl-3: a new mammalian cbl family proteinM 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...
- CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transductionCynthia 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...
- cbl-b inhibits epidermal growth factor receptor signalingS 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...
- Cbl-c suppresses v-Src-induced transformation through ubiquitin-dependent protein degradationMinsoo 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...
- 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)...
- Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene productLuciana Hannibal
Department of Cell Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
Mol Genet Metab 97:260-6. 2009The 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))...
- Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlationsJordan P Lerner-Ellis
Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada
Hum Mutat 30:1072-81. 2009Methylmalonic 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...
- Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC typeIsabelle 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. 2009To report the prenatal presentation with dilated cardiomyopathy of methylmalonic aciduria and homocystinuria, cblC type [cobalamin C (cblC) deficiency] (MIM 277400).
- Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathyDaniele Frattini
Child Neurology Unit, Arcispedale Santa Maria Nuova, 42100 Reggio Emilia, Italy
Pediatr Neurol 43:135-8. 2010Methylmalonic 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...
- Acquired and inherited disorders of cobalamin and folate in childrenV 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)...
- Cbl-3-deficient mice exhibit normal epithelial developmentEmily 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...
- Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathiesD 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...
- A direct interaction between the adaptor protein Cbl-b and the kinase zap-70 induces a positive signal in T cellsZ 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...
- Causes of and diagnostic approach to methylmalonic aciduriasB 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...
- 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. 2014Methylmalonic aciduria with homocystinuria, cblC defect, is the most frequent disorder of vitamin B12 metabolism...
- An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Hung 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...
- Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in ChinaFei 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. 2010The most common inborn error of cobalamin (cbl) metabolism in China is the cblC type characterized by combined methylmalonic acidemia and hyperhomocysteinemia...
- Treatment of cobalamin C (cblC) deficiency during pregnancyCatherine 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. 2010To report the successful pregnancy of a woman with methylmalonic acidemia and hyperhomocysteinemia, cblC type [cobalamin C (cblC) deficiency] (MIM 277400).
- Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transportChantal 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, ..
- Cognitive and social profiles in two patients with cobalamin C diseaseM H Beauchamp
Murdoch Children s Research Institute, Australian Centre for Child Neuropsychological Studies, Melbourne, Australia
J Inherit Metab Dis 32:S327-34. 2009Cobalamin 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...
- Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C diseasePranoot Tanpaiboon
Division of Genetics and Metabolism, Children s National Medical Center, Washington, DC, 0010, USA
JIMD Rep 10:33-8. 2013Cobalamin 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...
- Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiencyMartin 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...
- The effects of different learning environments on students' motivation for learning and their achievementMarlies 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...
- Cobalamin C defect presenting with isolated pulmonary hypertensionFrancesca 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. 2013Cobalamin C (cblC) defect is the most common inborn error of vitamin B12 metabolism. Clinical features vary as does the severity of the disease...
- Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiencyI Vaz Matos
Department of Neurology, Hospital Sant Joan de Déu HSJD, Barcelona, Spain
Mol Genet Metab 109:360-5. 2013b>CblC deficiency produces a combination of methylmalonic aciduria (MMA) and homocystinuria (HCU), and is the most common error of cobalamin metabolism...
- [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)...
- C-terminal truncation of a bovine B(12) trafficking chaperone enhances the sensitivity of the glutathione-regulated thermostabilityJinju 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...
- The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioningCarmen 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'-..
- Cbl-c ubiquitin ligase activity is increased via the interaction of its RING finger domain with a LIM domain of the paxillin homolog, Hic 5Philip 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...
- Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defectsEva 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...
- Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologistMarina 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...
- CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2Paula 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...
- Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuriaLeah R Fuchs
Ophthalmology, Mount Sinai School of Medicine, New York, New York, USA
J AAPOS 16:370-5. 2012To report the ocular complications of cobalamin-C type methylmalonic aciduria with homocystinuria (cblC) in a large consecutive series of patients.
- Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolismWayne Mah
Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada
Mol Genet Metab 108:112-8. 2013MMACHC 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)...
- A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in ChinaXianling Wang
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China
J Neurol Sci 318:155-9. 2012Combined methylmalonic aciduria and homocystinuria, cblC type (cblC disease), is the most common inborn disorder of cobalamin metabolism...
- [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...
- Using an exon microarray to identify a global profile of gene expression and alternative splicing in K562 cells exposed to sodium valproateXiang 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...
- Leukoencephalopathies associated with disorders of cobalamin and folate metabolismBridget 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)...
- Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorderD S Froese
Department of Biochemistry and Molecular Biology, University of Calgary, Alberta Children s Hospital Research Institute for Child and Maternal Health, Calgary, Alta, Canada
Mol Genet Metab 100:29-36. 2010Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism...
- Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyteJames D Weisfeld-Adams
Program for Inherited Metabolic Diseases, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
Mol Genet Metab 99:116-23. 2010Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC...
- Methionine auxotrophy in inborn errors of cobalamin metabolismV Garovic-Kocic
Department of Biology, McGill University, Montreal, Quebec
Clin Invest Med 15:395-400. 1992Several 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 ..
- Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screeningHenry J Lin
Division of Medical Genetics, Harbor UCLA Medical Center, Torrance, CA 90502, USA
J Pediatr 155:924-7. 2009..The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form)...
- Immunolocalization of lactoferrin in cartilage-forming neoplasmsAntonio Ieni
Department of Human Pathology, Policlinico Universitario G Martino, Pad D, Via Consolare Valeria, 98125 Messina, Italy
J Orthop Sci 14:732-7. 2009..Lf immunoreactivity has been extensively investigated in many neoplastic tissues. Recently, Lf expression was documented in the osteoblastic lineage of bone-forming tumors as well as in osteoblasts of fetal bone...
- Comparison of the clinical effects of carbomer-based lipid-containing gel and hydroxypropyl-guar gel artificial tear formulations in patients with dry eye syndrome: a 4-week, prospective, open-label, randomized, parallel-group, noninferiority studyTsung Jen Wang
Department of Ophthalmology, Taipei Medical University Hospital, Taipei, Taiwan Department of Ophthalmology, Taipei Medical University, Taipei, Taiwan Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan
Clin Ther 32:44-52. 2010..Newer gel-, cellulose-, and mineral oil-based formulations have been designed to overcome the disadvantages of current aqueous tear substitutes by offering prolonged retention times...
- Inborn errors of cobalamin absorption and metabolismDavid Watkins
Department of Human Genetics, McGill University, Canada
Am J Med Genet C Semin Med Genet 157:33-44. 2011..hyperhomocysteinemia (cblD variant 1, cblE, cblG) or combined methylmalonic acidemia and hyperhomocysteinemia (cblC, classic cblD, cblF). All these disorders are inherited as autosomal recessive traits...
- The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin AmericaBelen Perez
Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular SO UAM CSIC, Universidad Autonoma de Madrid, Campus de Cantoblanco, Madrid, Spain
J Inherit Metab Dis 33:S307-14. 2010..593delA) and one in the MMAB gene (c.349-1 G>C). Two patients with MMAuria with homocystinuria cblC type are carriers of the frequent c.271dupA mutation...
- Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuriaMei Ying Liu
Institute of Genetics, National Yang Ming University, Taipei, Taiwan
J Hum Genet 55:621-6. 2010The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene...
- Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC typeAna Jorge-Finnigan
Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biologia Molecular Severo Ochoa, CSIC UAM, Departamento de Biologia Molecular, Universidad Autonoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER Madrid, Spain
Biochim Biophys Acta 1802:959-67. 2010..metabolism, including isolated methylmalonic aciduria (MMA) cblB type and MMA combined with homocystinuria (MMAHC) cblC type...
- Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC diseaseSarah Catharina Grünert
Centre for Pediatrics and Adolescent Medicine, University of Freiburg Hospital, Germany
Brain Dev 33:432-6. 2011Cobalamin C (cblC) defect, the most common inborn error of cobalamin metabolism, is a multisystem disorder usually presenting with progressive neurological, haematological and ophthalmological signs...
- [Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type]Dong Cui
Institute for Pediatric Research, Shenzhen Children s Hospital, Shenzhen 518026, China
Zhonghua Er Ke Za Zhi 48:469-72. 2010b>CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene...
- The MMACHC proteome: hallmarks of functional cobalamin deficiency in humansLuciana Hannibal
Department of Cell Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
Mol Genet Metab 103:226-39. 2011..Mutations in the MMACHC gene (cblC complementation group) disrupt processing of the upper-axial ligand of newly internalized cobalamins, leading to ..
- Structural basis of multifunctionality in a vitamin B12-processing enzymeMarkos Koutmos
Department of Biological Chemistry and the Life Sciences Institute, University of Michigan Medical Center, Ann Arbor, Michigan 48109 0600, USA
J Biol Chem 286:29780-7. 2011An early step in the intracellular processing of vitamin B(12) involves CblC, which exhibits dual reactivity, catalyzing the reductive decyanation of cyanocobalamin (vitamin B(12)), and the dealkylation of alkylcobalamins (e.g...
- Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomesNuria Carrillo-Carrasco
Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA
J Inherit Metab Dis 35:103-14. 2012Combined methylmalonic acidemia and homocystinuria, cblC type, is stated to be the most common inborn error of intracellular cobalamin metabolism...
- Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and managementNuria Carrillo-Carrasco
Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA
J Inherit Metab Dis 35:91-102. 2012Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin ..
- Glutathione increases the binding affinity of a bovine B₁₂ trafficking chaperone bCblC for vitamin B₁₂Jinju Jeong
School of Biotechnology, Yeungnam University, 214 1 Dae Dong, Gyeongsan si, Gyeongsangbuk do 712 749, Republic of Korea
Biochem Biophys Res Commun 412:360-5. 2011Intracellular B(12) metabolism involves a B(12) trafficking chaperone CblC that is well conserved in mammals including human...
- Hydroxocobalamin dose escalation improves metabolic control in cblCN 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. 2009Cobalamin C (cblC), a combined form of methylmalonic acidaemia and hyperhomocysteinaemia, is recognized as the most frequent inborn error of intracellular cobalamin metabolism...
- A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalaminsJihoe 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.
- Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolismRandy 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...
- Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC typeJordan P Lerner-Ellis
Department of Human Genetics, McGill University, Montreal, Quebec, Canada, H3G 1B1
Nat Genet 38:93-100. 2006Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases...
- Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutationVincent Guigonis
Department of Pediatric Nephrology, Hopital Armand Trousseau, Paris, France
Am J Kidney Dis 45:588-95. 2005b>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.
- Uncoupling of vasopressin signaling in collecting ducts from rats with CBL-induced liver cirrhosisLone 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...
- 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 activationPascal 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...
- Regulation of ubiquitin protein ligase activity in c-Cbl by phosphorylation-induced conformational change and constitutive activation by tyrosine to glutamate point mutationsC 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...
- The psychosocial functioning of children and spouses of adults with ADHDKlaus 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...
- Identification and molecular analysis of cable pilus biosynthesis genes in Burkholderia cepaciaUmadevi 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...
- c-Cbl is involved in Met signaling in B cells and mediates hepatocyte growth factor-induced receptor ubiquitinationTaher 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...
- Sprouty2 attenuates epidermal growth factor receptor ubiquitylation and endocytosis, and consequently enhances Ras/ERK signallingEsther 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...
- Interaction between two ubiquitin-protein isopeptide ligases of different classes, CBLC and AIP4/ITCHJean 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...
- CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinasesIwona 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...
- CblC/D defect combined with haemodynamically highly relevant VSDM Tomaske
Department of Pediatrics I, University Hospital, Tubingen, Germany
J Inherit Metab Dis 24:511-2. 2001An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
- Long-term outcome in treated combined methylmalonic acidemia and homocystinemiaH C Andersson
Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA
Genet Med 1:146-50. 1999To describe the clinical and biochemical features and long-term outcome of a cohort of eight patients with methylmalonic acidemia and homocystinuria (cblC).
- Characterization of the mouse Cblc/Cbl3 geneF Fiore
Laboratoire d Oncologie Moleculaire, U 119 INSERM, IFR57, 27 Boulevard Lei Roure, 13009 Marseille, France
Biochem Biophys Res Commun 280:182-7. 2001The mouse Cblc/Cbl3 gene was cloned and characterized...
- Activating SRC mutation in a subset of advanced human colon cancersR 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...
- A third human CBL gene is on chromosome 19V 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...
- Regulation of peripheral T cell tolerance by the E3 ubiquitin ligase Cbl-bStefanie 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...
- Late-onset cobalamin-C disorder: a challenging diagnosisTawfeg I Ben-Omran
Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada
Am J Med Genet A 143:979-84. 2007Cobalamin-C (cblC) disease is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism...
- High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuriaLaurie E Profitlich
Mount Sinai School of Medicine, Department of Pediatrics, Division of Pediatric Cardiology, NY 10029, USA
Mol Genet Metab 98:344-8. 2009To 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 ..
- 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. 2009Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B(12) metabolism...
- Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuriaD S Froese
Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Alta, Canada
Mol Genet Metab 98:338-43. 2009Patients 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...
- Profiling of oxidative stress in patients with inborn errors of metabolismPeter 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...
- [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. 2009Methylmalonic 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...
- Abnormal mammary gland development in MMTV-CBLC transgenic mouseFrédéric 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...
- Epstein-barr virus-induced expression of a novel human vault RNAConstanze 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...
- Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependenceAmanda 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 ..
- [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. 2009To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria.
- Enamel defects and salivary methylmalonate in methylmalonic acidemiaC 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...
- Clinical validity of the lung cancer biomarkers identified by bioinformatics analysis of public expression dataBumjin 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...
- 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...
- Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbanceAnne 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...
- Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorderAjay 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...
- Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeCelia Nogueira
Genetics Medical Center, INSA, Oporto, Portugal
Mol Genet Metab 93:475-80. 2008Methylmalonic 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...
- Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disordersM C Gaillard
Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
Klin Monbl Augenheilkd 225:491-4. 2008Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities.
- Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C typeChristina Gerth
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada
J AAPOS 12:591-6. 2008To 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.
- Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutationF 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...
- Functional cooperation between c-Cbl and Src-like adaptor protein 2 in the negative regulation of T-cell receptor signalingMichael P Loreto
Department of Medical Biophysics, University of Toronto and Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8
Mol Cell Biol 22:4241-55. 2002..These results suggest that the mechanism of action of SLAP-2 and the related protein SLAP is to promote c-Cbl-dependent degradation of the tyrosine kinases SYK and ZAP-70 and down-regulation of CD3 at the cell surface...
- Molecular cloning and characterization of a novel cbl-family gene, cbl-cM Kim
Department of Oncology, The Institute of Medical Science, The University of Tokyo, Japan
Gene 239:145-54. 1999..2-13.3. Finally, the 52 kDa Cbl-c protein binds to the EGF receptor and Fyn tyrosine kinase. We conclude that Cbl-c is a novel Cbl-family adaptor protein that would regulate intracellular signaling mediated by various tyrosine kinases...
- Survival and growth-promotion mechanisms of the GDNF family ligands (GFLs)BRIAN PIERCHALA; Fiscal Year: 2009....
- Survival and growth-promotion mechanisms of the GDNF family ligands (GFLs)BRIAN ANTHONY PIERCHALA; Fiscal Year: 2010....
- C CBL IN MODULATION OF CELL ADHESION AND MORPHOLOGYAlexander 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. ..
- Prostaglandin D and skin cancer preventionHenry Lin; Fiscal Year: 2007..Significance: Results should give new insight into roles and mechanisms of prostaglandins in tumor growth. Niacin as a booster of PGD2 may emerge as an agent to be studied for chemoprevention of skin cancer. ..
- PROSTAGLANDINS AND COLON ADENOMASHenry 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. ..