Genomes and Genes
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
Publications119 found, 100 shown here
- 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...
- 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 ..
- 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...
- 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...
- 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...
- 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...
- 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)...
- 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...
- 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))...
- 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...
- 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...
- 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...
- 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...
- 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...
- Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonateCary 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...
- 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)...
- 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).
- Structural flexibility regulates phosphopeptide-binding activity of the tyrosine kinase binding domain of Cbl-cKohei Takeshita
Institute for Protein Research, Osaka University, Suita, Osaka 565 0871, Japan
J Biochem 152:487-95. 2012....
- Treatment of inherited homocystinuriasManuel 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 ..
- Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C typeJames 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. 2013Abnormal 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...
- Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C typeRobert Gizicki
Department of Ophthalmology, Centre hospitalier universitaire Sainte Justine, Universite de Montreal, Montreal, Canada
Ophthalmology 121:381-6. 2014To describe the long-term ophthalmologic outcomes of patients with methylmalonic aciduria and homocystinuria, cobalamin C type (cblC).
- 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 domainsGina 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. ..
- Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutationMustafa Kilic
Division of Hacettepe University Faculty of Medicine, Ankara, Turkey, and 3University Children s Hospital, Basel, Switzerland
Turk J Pediatr 55:633-6. 2013Methylmalonic 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...
- First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC typeYupeng Liu
Peking University First Hospital, Beijing 100034, China
Brain Dev 37:286-91. 2015Combined methylmalonic aciduria (MMA) and homocystinuria, cblC type, is the most common MMA in Mainland China...
- The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humansMarianna Caterino
Fondazione SDN IRCCS, Naples, Italy
J Inherit Metab Dis 38:969-79. 2015Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism...
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesMartina 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...
- Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone 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.
- Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHCYanan 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...
- A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiencyIrini 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. 2016Cobalamin C (cblC) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia...
- The Ubiquitin Ligase CBLC Maintains the Network Organization of the Golgi ApparatusWan 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...
- 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. 2015Methylmalonic 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...
- Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemiaCristy A Ku
a Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA
Ophthalmic Genet 37:404-414. 2016Cobalamin C disease (cblC), which leads to methylmalonic acidemia with homocystinuria, is the most common inherited disorder of vitamin B12 metabolism...
- Successful intrauterine treatment of a patient with cobalamin C defectFriedrich K Trefz
University Children s Hospital, Department of Metabolism and Pediatric Medicine, Heidelberg, Germany
Mol Genet Metab Rep 6:55-9. 2016Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects cobalamin metabolism...
- Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entityBodo B Beck
Institute of Human Genetics, University of Cologne, Cologne, Germany
Pediatr Nephrol . 2016Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B12) deficiency...
- Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) PatientE 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.
- Methylmalonic Acidemia Diagnosis by Laboratory MethodsKeyfi 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...
- Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screeningAshley 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 . 2017Cobalamin 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...
- 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...
- 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, ..
- 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).
- 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...
- 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...
- 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...
- 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'-..
- 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...
- 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...
- [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)...
- 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...
- 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...
- 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...
- 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...
- [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...
- 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...
- 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...
- 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...
- 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...
- 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)...
- 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)...
- 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 ..
- 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...
- 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...
- 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...
- 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...
- 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).
- 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.
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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.
- 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...
- 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...
- 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...
- 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.
- 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...
- [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.
- 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 ..
- 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...
- 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...
- [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...
- 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...
- 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...
- 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...
- 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 ..
- 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.
- 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...
- Survival and growth-promotion mechanisms of the GDNF family ligands (GFLs)BRIAN ANTHONY PIERCHALA; Fiscal Year: 2012....
- 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 ..
- GDNF and Ret are critical for glomerular development, maintenance, and protectionCYNTHIA 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...
- 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. ..
- 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. ..
- Prostaglandin D and skin cancer preventionHenry 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]..