Gene Symbol: MMAA
Description: methylmalonic aciduria (cobalamin deficiency) cblA type
Alias: cblA, methylmalonic aciduria type A protein, mitochondrial
- 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..mutase (MCM) (mut complementation group) and from defects in the synthesis of the MCM cofactor adenosylcobalamin (cblA, cblB, cblC, cblD, and cblF groups)...
- Disproportionate distribution of Burkholderia cepacia complex species and transmissibility markers in cystic fibrosisJ J LiPuma
Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan 48109 0646, USA
Am J Respir Crit Care Med 164:92-6. 2001..cepacia epidemic strain marker [BCESM] and cable pilin subunit gene [cblA]). Fifty percent of patients were infected with B. cepacia complex genomovar III, 38% with B...
- Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)D Watkins
Division of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada
J Med Genet 37:510-3. 2000To investigate genetic heterogeneity within the cblA class of inborn error of cobalamin metabolism.
- Short-column liquid chromatography with hydride generation atomic fluorescence detection for the speciation of arsenicX C Le
Department of Public Health Sciences, Faculty of Medicine, University of Alberta, Edmonton, Canada
Anal Chem 70:1926-33. 1998..of speciating nanogram-per-milliliter levels of arsenite (As(III)), arsenate (As(V)), monomethylarsonic acid (MMAA), and dimethylarsinic acid (DMAA) within 3 min...
- Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parametersF Horster
Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital Heidelberg, Im Neuenheimer Feld 430, D 69120, Heidelberg, Germany
J Inherit Metab Dis 32:630-9. 2009..age at diagnosis, birth decade, diagnostic work-up, cobalamin responsiveness, enzymatic subgroup (mut(0), mut(-), cblA, cblB) and different aspects of long-term outcome. Results 273 patients were included...
- Sensitive method for the determination of roxarsone using solid-phase microextraction with multi-detector gas chromatographyAaron R Roerdink
Department of Chemistry, University of Wisconsin Milwaukee, Milwaukee, WI 53211 3029, USA
J Chromatogr A 1057:177-83. 2004..of molecular MS for the determination of roxarsone, dimethylarsenic acid (DMAA), and monomethylarsonic acid (MMAA) in complex matrices. Analytes were derivatized based on the approach we previously reported [B. Szostek, J.H...
- Bioaccessibility and excretion of arsenic in Niu Huang Jie Du Pian pillsIris Koch
Environmental Sciences Group, PO Box 17000 Station Forces, Royal Military College of Canada, Kingston, Ontario, Canada K7K 7B4
Toxicol Appl Pharmacol 222:357-64. 2007..The species of arsenic that were solubilized were inorganic arsenate (As(V)) and arsenite (As(III)) but DMAA and MMAA were detected in urine...
- Treatment of subsyndromal depressive symptoms in middle-aged and older adults with schizophrenia: effect on functioningJohn Kasckow
VA Pittsburgh Health Care System MIRECC and Behavioral Health Service, 7180 Highland Dr, Pittsburgh, PA, USA
Int J Geriatr Psychiatry 25:183-90. 2010..We hypothesized that treating this population with the SSRI citalopram would lead to improvements in social, mental and physical functioning as well as improvements in medication management and quality of life...
- 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..transcobalamin deficiency) as well as its intracellular metabolism affecting adenosylcobalamin synthesis (cblA and cblB), methionine synthase function (cblE and cblG) or both (cblC, cblD and cblF)...
- Speciation of five arsenic species (arsenite, arsenate, MMAAV, DMAAV and AsBet) in different kind of water by HPLC-ICP-MSSébastien N Ronkart
Gembloux Agricultural University, Unité de chimie analytique et Phytopharmacie, Passage des Deportes, 2, B 5030 Gembloux, Belgium
Chemosphere 66:738-45. 2007..has been developed to accurately determine arsenite (As(III)), arsenate (As(V)), mono-methylarsonic acid (MMAA(V)), dimethylarsinic acid (DMAA(V)) and arsenobetaine (AsBet) in different water matrices...
- Revised approach for identification of isolates within the Burkholderia cepacia complex and description of clinical isolates not assigned to any of the known genomovarsJane F Turton
Laboratory of HealthCare Associated Infection, Centre for Infections, Health Protection Agency, 61 Colindale Ave, London NW9 5EQ, United Kingdom
J Clin Microbiol 45:3105-8. 2007..the Burkholderia cepacia complex (Bcc) were identified using a modified strategy that involved PCR detection of the cblA gene for the ET12 lineage simultaneously with detection of the Bcc recA PCR product; recA sequence cluster analysis ..
- Medication management ability assessment: results from a performance-based measure in older outpatients with schizophreniaThomas L Patterson
Department of Psychiatry, University of California, San Diego, CA 92093 0680, USA
J Clin Psychopharmacol 22:11-9. 2002..we describe a performance-based measure of medication management, the Medication Management Ability Assessment (MMAA), which represents a modification of the Medication Management Test used in individuals with HIV infection...
- Dissociable effects of lidocaine inactivation of the rostral and caudal basolateral amygdala on the maintenance and reinstatement of cocaine-seeking behavior in ratsKathleen M Kantak
Laboratory of Behavioral Neuroscience and Cognitive Neurobiology Laboratory, Department of Psychology, Boston University, Boston, Massachusetts 02215, USA
J Neurosci 22:1126-36. 2002..reversible lidocaine-induced inactivation of rostral basolateral amygdala (rBLA) and caudal basolateral amygdala (cBLA) regions on the maintenance and reinstatement of drug-seeking behavior in rats trained to self-administer 1 mg/kg ..
- Arsenic toxicity and accumulation in radish as affected by arsenic chemical speciationA A Carbonell-Barrachina
Departamento de Tecnología Agro Alimentaria, Universidad Miguel Hernandez, Alicante, Espana, Spain
J Environ Sci Health B 34:661-79. 1999..A 4 x 3 factorial experiment was conducted with treatments consisting of four As chemical forms [As(III), As(V), MMAA, DMAA] and three As concentrations (1.0, 2.0, and 5.0 mg As L-1)...
- 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..rare inborn errors of cobalamin metabolism are known and are distinguished by complementation analysis (mut, cblA-cblH). From 1984 to 2005, we have performed prenatal diagnosis for 117 high-risk pregnancies...
- Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemiaD Coman
Department of Metabolic Medicine, The Royal Children s Hospital, Brisbane, Australia
Pediatr Nephrol 21:270-3. 2006..Our patient was diagnosed with B(12)-responsive MMA (subsequently proven to be cblA-type MMA) in the postoperative period following renal transplantation for idiopathic chronic renal failure...
- Arsenic speciation of solvent-extracted leachate from new and weathered CCA-treated woodBernine I Khan
Department of Civil, Architectural, and Environmental Engineering, University of Miami, P O Box 248294, Coral Gables, Florida 33124 0630, USA
Environ Sci Technol 38:4527-34. 2004..leachates were analyzed for inorganic As(III) and As(V) and the organoarsenic species, monomethylarsonic acid (MMAA) and dimethylarsinic acid (DMAA), using high-performance liquid chromatography followed by hydride generation and ..
- Cable pili and the 22-kilodalton adhesin are required for Burkholderia cenocepacia binding to and transmigration across the squamous epitheliumTeresa A Urban
Department of Microbiology, University of Virginia Health Sciences, Charlottesville, Virginia, USA
Infect Immun 73:5426-37. 2005..Isogenic mutants lacking expression of either Cbl pili (cblA or cblS mutants) or the adhesin (adhA mutant) were constructed to assess the individual role of Cbl pili and the ..
- Cognitive predictors of medication adherence among middle-aged and older outpatients with schizophreniaShafali D Jeste
Children s Hospital Boston, Boston, MA 02115, USA
Schizophr Res 63:49-58. 2003..we evaluated the correlation of patients' scores on Mattis' Dementia Rating Scale (DRS; total and subscale scores) with scores on the Medication Management Ability Assessment (MMAA), a performance-based measure of medication management.
- Burkholderia respiratory tract infections in Italian patients with cystic fibrosis: molecular characterizationT Allice
Department of Clinical and Biological Sciences, University of Torino at S Luigi Gonzaga Hospital, 10043 Orbassano, Torino, Italy
J Infect 53:159-65. 2006..and adults), to assign the Burkholderia cepacia complex (Bcc) isolates to a genomovar and to assess the presence of cblA and esmR genes in bacteria...
- Biosafety and colonization of Burkholderia multivorans WS-FJ9 and its growth-promoting effects on poplarsGuan Xi Li
College of Forest Resources and Environment, Nanjing Forestry University, Nanjing, Jiangsu, 210037, China
Appl Microbiol Biotechnol 97:10489-98. 2013..multivorans WS-FJ9 strain did not possess the BCESM and cblA virulence genes. Scanning electron microscopy revealed that the colonization of the WS-FJ9 strain reached 1...
- Effects of SCH-23390 infused into the amygdala or adjacent cortex and basal ganglia on cocaine seeking and self-administration in ratsAndrea T Alleweireldt
Department of Psychology, Arizona State University, Tempe, 85287, USA
Neuropsychopharmacology 31:363-74. 2006..we infused the D1 antagonist, SCH-23390, into the rostral basolateral amygdala (rBLA), caudal basolateral amygdala (cBLA), or central amygdala (CEA), and tested its effects on self-administration of cocaine, as well as reinstatement of ..
- Lack of cable pili expression by cblA-containing Burkholderia cepacia complexUmadevi Sajjan
Department of Structural Biology, Hospital for Sick Children, Toronto, Ontario, Canada
Microbiology 148:3477-84. 2002..III strain that predominates among CF patients in Canada and the United Kingdom and is characterized by distinctive cblA-encoded pili that have a cable-like morphology. In a previous survey of B...
- Biochemical-genetic analysis and distribution of DES-1, an Ambler class A extended-spectrum beta-lactamase from Desulfovibrio desulfuricansAnne Sophie Morin
Service de Bacteriologie Virologie, Hopital de Bicetre, Assistance Publique Hopitaux de Paris, Faculte de Medecine Paris Sud, 94275 Le Kremlin Bicetre, France
Antimicrob Agents Chemother 46:3215-22. 2002..It was weakly related to class A beta-lactamases CblA, CepA, CfxA, and CfxA2 from other anaerobic species, Bacteroides spp. and Prevotella intermedia...
- Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case reportR Lubrano
Dipartimento di Pediatria, Universita degli Studi di Roma La Sapienza, Rome, Italy
Am J Transplant 13:1918-22. 2013..We report on a case of pregnancy in a patient 29-year-old with methylmalonic acidemia cblA type (OMIM 251100) who received a renal transplantation at the age of 17 for end-stage renal disease (ESRD) caused ..
- High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduriaLaura Dempsey-Nunez
Department of Human Genetics, McGill University, Montreal, QC, Canada
Mol Genet Metab 107:363-7. 2012..Mutations in this gene lead to the cblA class of disorders, characterized by isolated methylmalonic aciduria...
- 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..The majority of these patients, especially those having mut°, cblB, and cblA deficiency, are at increased risk of developing chronic kidney disease secondary to tubulointerstitial nephritis to ..
- Clinical and molecular findings in Thai patients with isolated methylmalonic acidemiaNithiwat Vatanavicharn
Division of Medical Genetics, Department of Pediatrics, Mahidol University, Bangkok, Thailand
Mol Genet Metab 106:424-9. 2012..788G>T (p.G263V), c.809_812dupGGGC (p.D272Gfs*2), and c.1426C>T (p.Q476*); one mutation in the MMAA gene: c.292A>G (p.R98G); and three mutations in the MMAB gene: c.682delG (p.A228Pfs*2), c.435delC (p...
- Sexual and reproductive health education among dressmakers and hairdressers in the Assin South District of GhanaSamuel A Owusu
University of Cape Coast, Ghana
Afr J Reprod Health 15:109-19. 2011..some of the respondents were able to mention some sexual and reproductive health education programmes such as 'Mmaa Nkomo', most of them could not recall the recent topic discussed...
- Antibiotic resistance gene profiling of faecal and oral anaerobes collected during an antibiotic challenge trialM Kirchner
Department of Bacteriology and Food Safety, Animal Health and Veterinary Laboratories Agency, Addlestone, Surrey KT15 3NB, UK
Anaerobe 23:20-2. 2013..The results demonstrated that genes normally associated with anaerobes were most prevalent such as tetQ, cepA and cblA although several genes associated with Enterobacteriaceae including sul2, blaSHV and strB were also detected.
- Burkholderia cepacia complex bacteria from clinical and environmental sources in Italy: genomovar status and distribution of traits related to virulence and transmissibilityAnnamaria Bevivino
Biotechnology and Agriculture Division, ENEA C R Casaccia, 00060 S Maria di Galeria, Rome, Italy
J Clin Microbiol 40:846-51. 2002..hemolytic activities, and transmissibility, in which transmissibility is determined by detection of the esmR and cblA genes. Among the clinical isolates, B...
- Adherence and autoaggregation phenotypes of a Burkholderia cenocepacia cable pilus mutantMladen Tomich
Department of Microbiology, University of Minnesota Medical School, Minneapolis, MN 55455 0312, USA
FEMS Microbiol Lett 228:287-97. 2003..The cblA gene, encoding the major pilin subunit, was insertionally inactivated, and the resulting mutant was shown to be ..
- High prevalence of cfxA beta-lactamase in aminopenicillin-resistant Prevotella strains isolated from periodontal pocketsT Fosse
Laboratoire de Bacteriologie, Hôpital L Archet 2, Centre Hospitalier Universitaire de Nice, Nice, France
Oral Microbiol Immunol 17:85-8. 2002..33/35 strains). PCR assays were used to detect cfxA and cepA/cblA, the genes encoding class A/group2e beta-lactamases previously described in the Bacteroides fragilis group...
- Six-year molecular analysis of Burkholderia cepacia complex isolates among cystic fibrosis patients at a referral center for lung transplantationDavid G Heath
Clinical Microbiology Immunology Laboratories, University of North Carolina Hospitals, Chapel Hill 27514, USA
J Clin Microbiol 40:1188-93. 2002..characterized by pulsed-field gel electrophoresis (PFGE) and were assayed by PCR to detect the cable pilin gene, cblA. PFGE results indicated that six separate clusters (clusters A to F) were present among the 56 isolates and that ..
- Leukoencephalopathies associated with disorders of cobalamin and folate metabolismBridget Wilcken
Discipline of Paediatrics, University of Sydney, Sydney, Australia
Semin Neurol 32:68-74. 2012..Mutations at various metabolic steps affect the synthesis of adenosylcobalamin (CblA, CblB, and CblD2), methylcobalamin (CblE, CblG, and CblD1), or both of these (CblF, CblD, and CblC)...
- Influence of EDTA and chemical species on arsenic accumulation in Spirodela polyrhiza L. (duckweed)M Azizur Rahman
Graduate School of Natural Science and Technology, Kanazawa University, Kakuma, Kanazawa 920 1192, Japan
Ecotoxicol Environ Saf 70:311-8. 2008..05) higher than those of organic species (monomethylarsonic acid (MMAA) and dimethylarsinic acid (DMAA))...
- Burkholderia cepacia complex infection in a cohort of Italian patients with cystic fibrosisAntonietta Lambiase
Department of Biology and Pathology, Luigi Califano, University of Naples Federico II, Italy
J Microbiol 45:275-9. 2007..Burkholderia cenocepacia lineage III-A was the most prevalent species (64.3%) and, of these, 10% was cblA positive and 50% esmR positive...
- Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centresT Zwickler
Division of Metabolic Diseases, University Children s Hospital, Heidelberg, Germany
J Inherit Metab Dis 31:361-7. 2008..80%) returned questionnaires on 183 patients: 89 of the patients were classified as mut(0), 36 as mut(-), 13 as cblA, 7 as cblB, and 38 as cblA/B...
- Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)Friederike Hörster
Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital, D 69120 Heidelberg, Germany
Pediatr Res 62:225-30. 2007..mutase (MCM) (mut0, mut-) or deficient synthesis of its cofactor 5'-deoxyadenosylcobalamin (AdoCbl) (cblA, cblB). The aim of this study was to compare the long-term outcome in patients from these four enzymatic subgroups...
- Predictors of medication competence in schizophrenia patientsR Walter Heinrichs
Department of Psychology, York University, 4700 Keele Street, Toronto, Ontario, Canada
Psychiatry Res 157:47-52. 2008..Competence in medication management was indexed with the Medication Management Ability Assessment (MMAA)...
- Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduriaPaul A Hubbard
Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
J Biol Chem 282:31308-16. 2007..Impairments in the human homologue of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism...
- Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation groupB Merinero
Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biologia Molecular, Facultad de Ciencias, Universidad Autonoma, CIBER de Enfermedades Raras, Madrid, Spain
J Inherit Metab Dis 31:55-66. 2008..Using cellular and biochemical methods, we classified our patient cohort as having the MMA forms mut (n = 19), cblA (n = 9) and cblB (n = 4)...
- 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 cblA, cblB and the variant 2 form of cblD complementation groups are linked to processes unique to Ado-Cbl synthesis...
- Assessment of medication management ability in middle-aged and older adults with bipolar disorderColin A Depp
Department of Psychiatry, University of California, San Diego, CA, USA
J Clin Psychopharmacol 28:225-9. 2008..performance-based measure of medication management ability, the Medication Management Ability Assessment (MMAA), we compared performance of 29 middle-aged older community-dwelling outpatients with BD who were clinically stable ..
- A Dictyostelium homologue of the metazoan Cbl proteins regulates STAT signallingJudith Langenick
University of Dundee, School of Life Sciences, Dow Street, Dundee DD1 5EH, UK
J Cell Sci 121:3524-30. 2008..b>CblA, a Dictyostelium homologue of the Cbl proteins, contains all three conserved domains...
- 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...
- Effect of eutrophication on the distribution of arsenic species in eutrophic and mesotrophic lakesH Hasegawa
Graduate School of Natural Science and Technology, Kanazawa University, Kakuma, Kanazawa 920 1192, Japan
Sci Total Environ 407:1418-25. 2009..Most of methylarsenic fraction was dimethylarsinic acid (DMAA), and the concentration of monomethylarsonic acid (MMAA) was below the detection limit...
- Organic solvent-free reversed-phase ion-pairing liquid chromatography coupled to atomic fluorescence spectrometry for organoarsenic species determination in several matricesRomina P Monasterio
Analytical Chemistry Research and Development Group QUIANID, LISAMEN CCT CONICET Mendoza, Mendoza, Argentina
J Agric Food Chem 59:3566-74. 2011..and nitarsone (NIT), as well as other organic As species (dimethylarsonic acid (DMAA) and monomethylarsonic acid (MMAA)) by ion-pairing high-performance liquid chromatography coupled to hydride generation atomic fluorescence ..
- 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..A series of inborn errors of intracellular cobalamin metabolism, designated cblA-cblG, have been differentiated by complementation analysis...
- Field fluxes and speciation of arsines emanating from soilsAdrien Mestrot
Institute of Biological and Environmental Sciences, University of Aberdeen, Cruickshank Building, St Machar Drive, Aberdeen AB24 3UU, United Kingdom
Environ Sci Technol 45:1798-804. 2011..Addition of methylated oxidated pentavalent As, namely monomethylarsonic acid (MMAA) and dimethylarsinic acid (DMAA), to soil resulted in elevated yearly rates of volatilization with up to 3...
- Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formationD Sean Froese
Structural Genomics Consortium, University of Oxford OX3 7DU, United Kingdom
J Biol Chem 285:38204-13. 2010..type A), is implicated in the mitochondrial assembly of AdoCbl into MUT and is defective in children from the cblA complementation group of cobalamin disorders...
- 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..of p38 and JNK kinases in stress-response, their activation in fibroblasts from a spectrum of patients (mut, cblA, cblB, cblC and cblE) was analyzed revealing an increased expression of the phosphorylated-forms, specially in cblB ..
- Heat-assisted aqueous extraction of rice flour for arsenic speciation analysisTomohiro Narukawa
National Metrology Institute of Japan, National Institute of Advanced Industrial Science and Technology, Tsukuba, Ibaraki, Japan
J Agric Food Chem 58:8183-8. 2010..Arsenite [As(III)], arsenate [As(V)], monomethylarsonic acid (MMAA) and dimethylarsinic acid (DMAA) were detected in NIST SRM, and As(III), As(V) and DMAA were found in NMIJ CRM and ..
- 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..cblB and cblC patients presented the symptoms early and in general had more neurological complications, while cblA and mut(-) patients exhibited a late-onset presentation, and in general the long-term outcome was better...
- Functional significance of preserved affect recognition in schizophreniaJoanna M Fiszdon
Yale University, Department of Psychiatry, New Haven, CT, USA
Psychiatry Res 176:120-5. 2010..Skill Assessment (UPSA), Social Skills Performance Assessment (SSPA), Medication Management Ability Assessment (MMAA)] and interviewer-rated [Quality of Life Scale (QLS), Independent Living Skills Survey (ILSS)] measures of ..
- Long-term outcome in methylmalonic aciduria: a series of 30 French patientsM A Cosson
Metabolic Center, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
Mol Genet Metab 97:172-8. 2009..To better delineate the natural history of patients with methylmalonic aciduria (MMA)...
- Spondylocostal dysostosis associated with methylmalonic aciduriaRachel S Honjo
Instituto da Criança, University of Sao Paulo, Sao Paulo, Brazil
Genet Test Mol Biomarkers 13:181-3. 2009..Here we report on a case of a Brazilian boy with both diseases. As we know, it is the first case in the literature with the occurrence of both SCD and MMA--the first a skeletal disease and the latter an inborn error of metabolism...
- Protection and reactivation of human methylmalonyl-CoA mutase by MMAA proteinTóshiko Takahashi-Íñiguez
Departamento de Biologia Molecular y Biotecnologia, Instituto de Investigaciones Biomedicas, Universidad Nacional Autonoma de Mexico, Mexico, DF 04510, Mexico
Biochem Biophys Res Commun 404:443-7. 2011..In this study, we examined the influence of human MMAA protein on the kinetics of the reaction catalyzed by methylmalonyl-CoA mutase (MCM) by testing both purified ..
- Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)V Valayannopoulos
Reference Center for Inherited Metabolic Disorders, Hôpital Necker Enfants Malades and Université Paris Descartes, 149 rue de Sevres, 75743, Paris Cedex 15, France
J Inherit Metab Dis 32:159-62. 2009An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B(12) presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and ..
- Diversity analysis of Burkholderia cepacia complex in the water bodies of West Lake, Hangzhou, ChinaYuan Fang
State Key Laboratory of Rice Biology and Key Laboratory of Molecular Biology of Crop Pathogens and Insects, Ministry of Agriculture, Institute of Biotechnology, Zhejiang University, Hangzhou 310029, P R China
J Microbiol 49:309-14. 2011..In addition, all Bcc isolates tested were PCR negative for the cblA and esmR transmissibility marker genes except B. cenocepacia IIIB A8 which was positive for esmR genelater...
- Arsenic accumulation in bark beetles and forest birds occupying mountain pine beetle infested stands treated with monosodium methanearsonateChristy A Morrissey
Environment Canada, Canadian Wildlife Service, Pacific Wildlife Research Centre, 5421 Robertson Road, Delta, British Columbia, Canada
Environ Sci Technol 41:1494-500. 2007..3-700.2 microg g(-1) dw (geometric mean 42.0 microg g(-1)) with the metabolite monomethyl arsonic acid (MMAA) contributing 90-97% to the total arsenic extracted...
- Hydrous ferric oxide incorporated diatomite for remediation of arsenic contaminated groundwaterMin Jang
Department of Civil and Environmental Engineering, University of Wisconsin Madison, 1415 Engineering Drive, Madison, Wisconsin 53706, USA
Environ Sci Technol 41:3322-8. 2007..1%) and monomethyl arsenic acid (MMAA, 22.7%), while dimethyl arsenic acid (DMAA) and arsenate were only 2.4 and 1.3%, respectively...
- Epidemiology of Burkholderia cepacia complex species recovered from cystic fibrosis patients: issues related to patient segregationAndrew McDowell
Department of Bacteriology, Northern Ireland Public Health Laboratory, Belfast, UK
J Med Microbiol 53:663-8. 2004..cepacia complex species and putative transmissibility markers [cable pilin subunit gene (cblA) and the B. cepacia epidemic strain marker (BCESM)]...
- MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivationNatalia Korotkova
Departments of Chemical Engineering and Microbiology, University of Washington, Seattle, Washington 98195 1750, USA
J Biol Chem 279:13652-8. 2004..Recently, a human gene of unknown function, MMAA, has been implicated in methylmalonic aciduria (Dobson, C. M., Wai, T., Leclerc, D., Wilson, A., Wu, X., Dore, C...
- Molecular typing of, and distribution of genetic markers among, Burkholderia cepacia complex isolates from BrazilMaria G Detsika
Department of Medical Microbiology and Genitourinary Medicine, University of Liverpool, Liverpool L69 3GA, United Kingdom
J Clin Microbiol 41:4148-53. 2003..PCR screening indicated the presence of cblA in only two isolates, whereas the B. cepacia epidemic strain marker was found in 22 of 28 genomovar IIIA isolates...
- 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 cblA gene, encoding the major pilin subunit, is often used as a DNA marker to identify potentially virulent isolates...
- Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangementsC Melissa Dobson
Department of Biochemistry and Molecular Biology, University of Calgary, AB, Canada T2N 1N4
Proc Natl Acad Sci U S A 99:15554-9. 2002..of biochemical modifications for which several genetic diseases are known, comprising eight complementation groups (cblA through cblH)...
- Patterns of epithelial cell invasion by different species of the Burkholderia cepacia complex in well-differentiated human airway epitheliaUte Schwab
Cystic Fibrosis Pulmonary Research and Treatment Center, The University of North Carolina at Chapel Hill, 27599 7248, USA
Infect Immun 70:4547-55. 2002..cepacia complex, including a strain from the ET12 lineage (BC-7, genomovar III, cblA(+)), which is associated with most cepacia syndrome fatalities among CF populations, a genomovar IV strain (HI2258),..
- Interaction of cblA/adhesin-positive Burkholderia cepacia with squamous epitheliumUmadevi Sajjan
Departments of Structural Biology and Biochemistry, The Hospital for Sick Children, Toronto, Ontario, Canada
Cell Microbiol 4:73-86. 2002..strain of Burkholderia cepacia from genomovar III carries the cable pilin gene, expresses the 22 kDa adhesin (cblA +ve/Adh +ve), binds to cytokeratin 13 (CK13) and is invasive...
- Role of microbes in controlling the speciation of arsenic and production of arsines in contaminated soilsRiina Turpeinen
Department of Ecological and Environmental Sciences, University of Helsinki, Lahti, Finland
Sci Total Environ 285:133-45. 2002..arsenate [As(V)], under both aerobic and anaerobic conditions to arsenite [As(III)], monomethylarsonic acid [MMAA], dimethylarsinic acid [DMAA] and to volatile trimethylarsine [TMA] was, however, less than 0...
- Cognitive task performance after lidocaine-induced inactivation of different sites within the basolateral amygdala and dorsal striatumK M Kantak
Laboratory of Behavioral Neuroscience, Department of Psychology, Boston University, Massachusetts 02215, USA
Behav Neurosci 115:589-601. 2001..CCP) and win-stay accuracy were examined after lidocaine inactivation of either the rostral (rBLA) or caudal (cBLA) basolateral amygdala, the lateral (lDST) or medial (mDST) dorsal striatum, or a control site in rats...
- Arsenic metabolism in seaweed-eating sheep from Northern ScotlandJ Feldmann
University of Aberdeen, Department of Chemistry, Scotland, UK
Fresenius J Anal Chem 368:116-21. 2000..different arsenic species in body fluids (arsenite, arsenate, dimethylarsinic acid (DMAA), monomethylarsonic acid (MMAA), trimethylarsine oxide (TMAO), tetramethylarsonium ion (TMA), arsenobetaine (AsB), arsenocholine (AsC), ..
- Leaching, runoff and speciation of arsenic in a laboratory mesocosmM Ruokolainen
Department of Ecological and Environmental Sciences, University of Helsinki, Lahti, Finland
Sci Total Environ 258:139-47. 2000..The different arsenic species; arsenite [As(III)], arsenate [As(V)], monomethylarsonic acid (MMAA) and dimethylarsinic acid (DMAA), were analysed from irrigation and discharge water; mesocosm pool water; and ..
- Arsenic toxicity and accumulation in turnip as affected by arsenic chemical speciationA A Carbonell-Barrachina
Departamento de Tecnología Agro Alimentaria, Universidad Miguel Hernandez, Alicante, Spain
J Agric Food Chem 47:2288-94. 1999..A 4 x 3 factorial experiment was conducted with four As species [arsenite, arsenate, methylarsonic acid (MMAA), dimethylarsinic acid (DMAA)] and three As concentrations (1.0, 2.0, and 5.0 mg L(-)(1))...
- TLA-1: a new plasmid-mediated extended-spectrum beta-lactamase from Escherichia coliJ Silva
Departamento de Resistencia Bacteriana, Instituto Nacional de Salud Publica, Centro de Investigaciones sobre Enfermedades Infecciosas, Cuernavaca, Morelos, Mexico
Antimicrob Agents Chemother 44:997-1003. 2000..8% identity with the VEB-1 class A beta-lactamase from E. coli; 40 to 42% identity with CblA of Bacteroides uniformis, PER-1 of Pseudomonas aeruginosa, and PER-2 of Salmonella typhimurium; and 39% identity ..
- 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..we isolated a cosmid containing part of a new CBL gene, CBLc, related to the two characterized paralogous genes CBLa and CBLb...
- Paraoxonase polymorphism Met-Leu54 is associated with modified serum concentrations of the enzyme. A possible link between the paraoxonase gene and increased risk of cardiovascular disease in diabetesM C Garin
Clinical Diabetes Unit, Division of Endocrinology and Diabetes, University Hospital, Geneva, Switzerland
J Clin Invest 99:62-6. 1997..in plasma concentrations and activities of paraoxonase between genotypes defined by the 54 polymorphism: MMAA, MLAA, LLAA; protein, 65.3+/-18.0, 77.9+/-18.0, 93.5+/-26.0 microg/ml; P < 0.0001: activity (phenylacetate), 48...
- Identification of IS1356, a new insertion sequence, and its association with IS402 in epidemic strains of Burkholderia cepacia infecting cystic fibrosis patientsS D Tyler
Bureau of Microbiology, Laboratory Centre for Disease Control, Ottawa, Ontario, Canada
J Clin Microbiol 34:1610-6. 1996..was any association between the presence of various insertion sequence (IS) elements, the cable pilin subunit gene (cblA), electrophoretic type (ET), and ribotype (RT) in a collection of 97 clinical and 2 environmental isolates of B...
- Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutationXue Yang
Department of Medical Genetics, Tohoku University School of Medicine, Japan
Mol Genet Metab 82:329-33. 2004..MMA due to the effect of insufficient Cbl metabolism is classified into three forms (cblA, cblB, and cblH). Recently, the genes responsible for cblA and cblB were identified as MMAA and MMAB, respectively...
- Structurally variant classes of pilus appendage fibers coexpressed from Burkholderia (Pseudomonas) cepaciaR Goldstein
Section of Molecular Genetics, Maxwell Finland Laboratory for Infectious Diseases, Boston University School of Medicine, Massachusetts
J Bacteriol 177:1039-52. 1995..B. cepacia-encoded cblA pilin gene hybridization-based analysis revealed that one associated class, cable (Cbl) adhesin type IIB...
- Detection and characterization of beta-lactamase genes in subgingival bacteria from patients with refractory periodontitisTrude Handal
Department of Oral Biology, Dental Faculty, University of Oslo, 0316 Oslo, Norway
FEMS Microbiol Lett 242:319-24. 2005..and USA were screened for the presence of the bla(TEM), bla(SHV), bla(OXA), bla(ampC), bla(cfxA), and bla(cepA/cblA) genes by the polymerase chain reaction (PCR)...
- Pilus-mediated epithelial cell death in response to infection with Burkholderia cenocepaciaK John Cheung
Division of Infectious Diseases, Immunology and Rheumatology, Children s Hospital and Regional Medical Center, 307 Westlake Avenue N, Seattle, WA 98109, USA
Microbes Infect 9:829-37. 2007..However, the frequency of cell death was lower in cells infected with a non-piliated mutant, K56-2 cblA::Tp...
- Suicidality in middle aged and older patients with schizophrenia and depressive symptoms: relationship to functioning and Quality of LifeJ Kasckow
VA Pittsburgh Health Care System, Pittsburgh, PA 15206, USA
Int J Geriatr Psychiatry 22:1223-8. 2007....
- Burkholderia cenocepacia, B. multivorans, B. ambifaria and B. vietnamiensis isolates from cystic fibrosis patients have different profiles of exoenzyme productionGrasiella Maria Carvalho Ventura
Departamento de Microbiologia e Imunologia, Faculdade de Ciencias Medicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil
APMIS 115:311-8. 2007..None of the isolates exhibited the genetic markers cblA and BCESM, assessed by polymerase chain reaction...
- Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutationsThomas J Lempp
Division of Metabolism and Molecular Pediatrics, University Children s Hospital Zurich, Switzerland
Mol Genet Metab 90:284-90. 2007..e. cblA, cblB and cblD-variant 2...
- Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolismE Moras
Department of Human Genetics, McGill University, Montreal, Que, Canada H3G 1A4
Mol Genet Metab 90:140-7. 2007..metabolism are autosomal recessive disorders and have been classified into nine distinct complementation classes (cblA-cblH and mut)...
- Assessment of medication management by community-living elderly persons with two standardized assessment tools: a cross-sectional studyLisa C Hutchison
Department of Pharmacy Practice, University of Arkansas for Medical Sciences College of Pharmacy, Little Rock, 72205, USA
Am J Geriatr Pharmacother 4:144-53. 2006..Assessment tools to determine the ability to manage medication therapy have not been tested in elderly patients with cognitive impairment...
- 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..carboxylase subunits A and B (pcca-1, pccb-1), methylmalonic acidemia cobalamin A complementation group (mmaa-1), co(I)balamin adenosyltransferase (mmab-1), MMACHC (cblc-1), methylmalonyl-CoA epimerase (mce-1) and ..
- Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresisEva Richard
Centro de Biologia Molecular Severo Ochoa, CSIC UAM, Universidad Autonoma de Madrid, Madrid, Spain
J Proteome Res 5:1602-10. 2006..forms: mut MMA associated with MCM deficiency, three different defects related to mitochondrial Adocbl formation (cblA, cblB, and cblH), and cblD variant 2...
- A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker
Laboratory of Genetic Metabolic Diseases and Department of Clinical Genetics Pediatrics Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Hum Mutat 27:640-3. 2006..Both a higher residual activity of methylmalonyl-CoA mutase as well as the vitamin B12-responsive defects (cblA and cblB) may form the basis of the mild disorder...
- Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduriaC Melissa Dobson
Department of Biochemistry and Molecular Biology, University of Calgary, Canada
Mol Genet Metab 88:327-33. 2006..A patient, formerly identified as belonging to the cblA complementation group of vitamin B12 disorders but lacking mutations in the affected gene, MMAA, was tested for ..
- Medication nonadherence in older people with serious mental illness: prevalence and correlatesSarah I Pratt
Dartmouth Medical School NH, Dartmouth Psychiatric Research Center, NH 03301, USA
Psychiatr Rehabil J 29:299-310. 2006..higher adherence was related to better performance on the Medication Management Administration Assessment (MMAA) role-play, which was highly correlated with several domains of cognitive functioning, suggesting that the MMAA may ..
- Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutaseDominique Padovani
Redox Biology Center and the Biochemistry Department, University of Nebraska, Lincoln, NE 68588 0664, USA
J Biol Chem 281:17838-44. 2006..Mutations in the human homolog of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism that can be fatal...
- Molecular epidemiology and antibiotic susceptibility of Burkholderia cepacia-complex isolates from an Italian cystic fibrosis centreG Golini
Department of Pathology, Microbiology Section, University of Verona, Strada Le Grazie 8, 37100 Verona, Italy
Eur J Clin Microbiol Infect Dis 25:175-80. 2006..Strains were examined for species, presence of putative epidemic and virulence markers (i.e., cblA and the B. cepacia epidemic-strain marker [BCESM]), genetic relatedness and antibiotic susceptibility...
- Arsenic speciation analysis in water samples: a review of the hyphenated techniquesEwa Terlecka
Institute of Meteorology and Water Management, ul Parkowa 30, Wroclaw, Poland
Environ Monit Assess 107:259-84. 2005..In determinations of water samples inorganic arsenate (As(III), As(V)), methylated metabolities (MMAA, DMAA) and other organic forms such as AsB, AsC, arsenosugars or arsenic containing lipids have the most importance...
- Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variantsMaría Angeles Martínez
Centro de Biologia Molecular Severo Ochoa, CSIC UAM, Universidad Autonoma, Madrid, Spain
Mol Genet Metab 84:317-25. 2005..MMA, and classified into three different complementation groups cblA, cblB, and cblH associated with defects in the MMAA and MMAB genes and with an unidentified protein, respectively...
- Inorganic arsenic compounds and methylated metabolites induce morphological transformation in two-stage BALB/c 3T3 cell assay and inhibit metabolic cooperation in V79 cell assayToshiyuki Tsuchiya
Safety Evaluation Center, Showa Denko K K, Chiba 267 0056, Japan
Toxicol Sci 84:344-51. 2005..to determine initiating and promoting activities of disodium arsenate, sodium arsenite, monomethylarsonic acid (MMAA) and dimethylarsinic acid (DMAA)...
- Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolismJordan P Lerner-Ellis
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Hum Mutat 24:509-16. 2004Mutations in the MMAA gene on human chromosome 4q31.21 result in vitamin B12-responsive methylmalonic aciduria (cblA complementation group) due to deficiency in the synthesis of adenosylcobalamin...
- Antidepressant Augmentation of Late Life SchizophreniaJohn Kasckow; Fiscal Year: 2005....
- Burkholderia sp: Identification of major clonal lineagesJohn LiPuma; Fiscal Year: 2004..mallei and B. pseudomallei. ..
- Technology for DNA Damage Analysis and BiomarkersX Le; Fiscal Year: 2004..The technology will also be useful for monitoring DNA damage induced by anticancer agents and for studying DNA repair, which is an essential protection mechanism against cancer initiation. ..
- Intervention for Female Workers in MexicoThomas Patterson; Fiscal Year: 2008..Subgroup differences in the effectiveness of the intervention based on social, contextual, and interpersonal factors will be explored. ..
- Behavior Change and Maintenance Intervention for HIV+ MSM Methamphetamine UsersThomas L Patterson; Fiscal Year: 2010..g., binge use, injection, polydrug use) and key psychosocial factors (e.g., sexual compulsivity, experiences of abuse) will be explored. ..