Gene Symbol: BCKDHA
Description: branched chain keto acid dehydrogenase E1, alpha polypeptide
Alias: BCKDE1A, MSU, MSUD1, OVD1A, 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial, 2-oxoisovalerate dehydrogenase (lipoamide), BCKDH E1-alpha, branched chain keto acid dehydrogenase E1 alpha protein, branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
Species: human
Products:     BCKDHA

Top Publications

  1. Mescka C, Guerreiro G, Donida B, Marchetti D, Wayhs C, Ribas G, et al. Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation. Metab Brain Dis. 2015;30:1167-74 pubmed publisher
    ..Our data show that L-car supplementation can improve cellular defense against inflammation and oxidative stress in MSUD patients and may represent an additional therapeutic approach to the patients affected by this disease. ..
  2. Tarailo Graovac M, Sinclair G, Stockler Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, et al. The genotypic and phenotypic spectrum of PIGA deficiency. Orphanet J Rare Dis. 2015;10:23 pubmed publisher
    ..The less severe form of PIGA deficiency does not involve facial dysmorphism and multiple CNS abnormalities; instead, patients present with milder IDD, treatable seizures and generally a longer lifespan. ..
  3. Zhenyukh O, Civantos E, Ruiz Ortega M, Sánchez M, Vázquez C, Peiró C, et al. High concentration of branched-chain amino acids promotes oxidative stress, inflammation and migration of human peripheral blood mononuclear cells via mTORC1 activation. Free Radic Biol Med. 2017;104:165-177 pubmed publisher
    ..These data suggest that high concentrations of BCAA could exert deleterious effects on circulating blood cells and therefore contribute to the pro-inflammatory and oxidative status observed in several pathophysiological conditions. ..
  4. Rieger E, de Franceschi I, Preissler T, Wannmacher C. Neuroprotective Effect of Creatine and Pyruvate on Enzyme Activities of Phosphoryl Transfer Network and Oxidative Stress Alterations Caused by Leucine Administration in Wistar Rats. Neurotox Res. 2017;32:575-584 pubmed publisher
    ..In this case, it is possible that creatine plus pyruvate supplementation could benefit to the patients. ..
  5. Walterfang M, Bonnot O, Mocellin R, Velakoulis D. The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis. 2013;36:687-702 pubmed publisher
    ..Treatment considerations are discussed, including treatment resistance, the increased propensity for side-effects and the possibility of some treatments worsening the underlying disorder. ..
  6. Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y. Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. J Pediatr Endocrinol Metab. 2015;28:375-80 pubmed publisher
    ..Urease pretreatment is useful for the diagnosis of NICCD. In southern China, the majority of IEM were amino acid disorders and organic acid disorders. FAO disorders were relatively rare, which we need to investigate further. ..
  7. Wasim M, Awan F, Khan H, Tawab A, Iqbal M, Ayesha H. Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. Biochem Genet. 2018;56:7-21 pubmed publisher
    ..This information would be helpful to researchers and clinicians especially from developing countries to initiate newborn screening programs for aminoacidopathies. ..
  8. Wisniewski M, Carvalho Silva M, Gomes L, Zapelini H, Schuck P, Ferreira G, et al. Intracerebroventricular administration of α-ketoisocaproic acid decreases brain-derived neurotrophic factor and nerve growth factor levels in brain of young rats. Metab Brain Dis. 2016;31:377-83 pubmed publisher
  9. Hou J. Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy. Pediatr neonatol. 2016;57:431-435 pubmed publisher
    ..Additionally, brain and spinal magnetic resonance imaging, bone mineral density study, and monitoring of zinc status are suggested in MSUD patients. ..

More Information

Publications141 found, 100 shown here

  1. Vilela T, Scaini G, Furlanetto C, Pasquali M, Santos J, Gelain D, et al. Apoptotic signaling pathways induced by acute administration of branched-chain amino acids in an animal model of maple syrup urine disease. Metab Brain Dis. 2017;32:115-122 pubmed publisher
    ..In addition, the current studies also suggest that multiple mechanisms may be involved in BCAA-induced apoptosis in the cerebral cortex and hippocampus. ..
  2. Yunus Z, Kamaludin D, Mamat M, Choy Y, Ngu L. Clinical and biochemical profiles of maple syrup urine disease in malaysian children. JIMD Rep. 2012;5:99-107 pubmed publisher
    ..Our findings suggested that MSUD is not uncommon in Malaysia especially among the Malay and early laboratory diagnosis is crucial. ..
  3. Mescka C, Rosa A, Schirmbeck G, da Rosa T, Catarino F, de Souza L, et al. L-carnitine Prevents Oxidative Stress in the Brains of Rats Subjected to a Chemically Induced Chronic Model of MSUD. Mol Neurobiol. 2016;53:6007-6017 pubmed publisher
  4. Al Shamsi A, Baker A, Dhawan A, Hertecant J. Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor. JIMD Rep. 2016;30:59-62 pubmed
    ..Thus, careful metabolic monitoring and prompt treatment post liver transplantation are still required to avoid neurological sequelae of MSUD, particularly if the donor is heterozygous for MSUD. ..
  5. Sperringer J, Addington A, Hutson S. Branched-Chain Amino Acids and Brain Metabolism. Neurochem Res. 2017;42:1697-1709 pubmed publisher
    ..However, there are many questions of BCAA metabolism in the CNS (as well as the periphery) that remain elusive. We discuss areas of BCAA and BCKA metabolism that have yet to be researched adequately. ..
  6. Scaini G, Tonon T, de Souza C, Schuk P, Ferreira G, Neto J, et al. Serum Markers of Neurodegeneration in Maple Syrup Urine Disease. Mol Neurobiol. 2017;54:5709-5719 pubmed publisher
    ..Thus, the present findings corroborate previous studies that demonstrated that neurotrophic factors and lysosomal proteases may contribute, along with other mechanisms, to the intellectual deficit and neurodegeneration observed in MSUD. ..
  7. Niu D, Chien Y, Chiang C, Ho H, Hwu W, Kao S, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis. 2010;33:S295-305 pubmed publisher
    ..This is the largest case of MS/MS newborn screening in an East-Asian population to date. We hereby report the incidences and outcomes of metabolic inborn error diseases found in our nationwide MS/MS newborn screening program. ..
  8. Mescka C, Guerreiro G, Hammerschmidt T, Faverzani J, de Moura Coelho D, Mandredini V, et al. L-Carnitine supplementation decreases DNA damage in treated MSUD patients. Mutat Res. 2015;775:43-7 pubmed publisher
    ..Since l-car reduced DNA damage, it is presumed that dietary supplementation of this compound may serve as an adjuvant therapeutic strategy for MSUD patients in addition to other therapies. ..
  9. Caioli S, Candelotti E, Pedersen J, Saba L, Antonini A, Incerpi S, et al. Baicalein reverts L-valine-induced persistent sodium current up-modulation in primary cortical neurons. Biochim Biophys Acta. 2016;1862:566-575 pubmed publisher
  10. Brown G. Defects of thiamine transport and metabolism. J Inherit Metab Dis. 2014;37:577-85 pubmed publisher
    ..These conditions highlight the value of a trial of thiamine supplementation in patients whose clinical presentation falls within the spectrum of documented cases. ..
  11. Holecek M, Vodenicarovova M, Siman P. Acute effects of phenylbutyrate on glutamine, branched-chain amino acid and protein metabolism in skeletal muscles of rats. Int J Exp Pathol. 2017;98:127-133 pubmed publisher
    ..The results indicate that BCAA and GLN supplementation is needed when PB is used therapeutically and that PB may be a useful prospective agent which could be effective in management of maple syrup urine disease...
  12. Myers K, Reeves M, Wei X, Khan A. Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment. JIMD Rep. 2012;3:103-6 pubmed publisher
  13. Hampe M, Panaskar S, Yadav A, Ingale P. Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. Clin Biochem. 2017;50:121-126 pubmed publisher
    ..The technique is effective as a second-tier test to other established screening technologies, as well as one-step primary screening tool for a wide spectrum of IEM. ..
  14. Taschetto L, Scaini G, Zapelini H, Ramos A, Strapazzon G, Andrade V, et al. Acute and long-term effects of intracerebroventricular administration of ?-ketoisocaproic acid on oxidative stress parameters and cognitive and noncognitive behaviors. Metab Brain Dis. 2017;32:1507-1518 pubmed publisher
    ..From the biochemical and behavioral findings, it we presume that KIC provokes oxidative damage, and the persistence of brain oxidative stress is associated with long-term memory impairment and prepulse inhibition. ..
  15. Hauschild T, Guerreiro G, Mescka C, Coelho D, Steffens L, Moura D, et al. DNA damage induced by alloisoleucine and other metabolites in maple syrup urine disease and protective effect of l-carnitine. Toxicol In Vitro. 2019;57:194-202 pubmed publisher
    ..We demonstrated for the first time that oxidative DNA damage is induced not only by BCAAs and BCKAs but also by Allo and we reinforce the protective effect of L-Car. ..
  16. Celik M, Akdeniz O, Ozgun N, Ipek M, Ozbek M. Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism. Eur J Pediatr. 2019;: pubmed publisher
    ..Lower catheter-related complication rates may have been associated with the use of Tenckhoff catheters in PD and the use of right internal jugular vein in CVVHDF. ..
  17. Gündüz M, Ãœnal S, Okur Ä, Ayrancı Sucaklı Ä, Güzel F, Koç N. Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital. Turk J Pediatr. 2015;57:45-52 pubmed
    ..Early diagnosis through expanded neonatal screening in countries with high rates of consanguinity, enabling the initiation of early treatment, is essential for achieving low mortality rates and good prognoses. ..
  18. Kuhl A, Van Calcar S, Baker M, Seroogy C, Rice G, Scott Schwoerer J. Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. Genet Med. 2017;19:352-356 pubmed publisher
    ..Early identification of at-risk couples sets the foundation for early care of at-risk neonates, thereby improving future clinical outcomes.Genet Med 19 3, 352-356. ..
  19. Rosa L, Scaini G, Furlanetto C, Galant L, Vuolo F, Dall Igna D, et al. Administration of branched-chain amino acids alters the balance between pro-inflammatory and anti-inflammatory cytokines. Int J Dev Neurosci. 2016;48:24-30 pubmed publisher
    ..These findings suggest that a better understanding of the inflammatory response in MSUD patients may be useful to develop therapeutic strategies to modulate the hyperinflammatory/hypoinflammatory axis. ..
  20. Grünert S, Rosenbaum Fabian S, Schumann A, Schwab K, Mingirulli N, Spiekerkoetter U. Successful pregnancy in maple syrup urine disease: a case report and review of the literature. Nutr J. 2018;17:51 pubmed publisher
    ..Careful monitoring and interdisciplinary collaboration is essential to minimize the risk of metabolic crisis, especially after delivery. ..
  21. Xing G, Ren M, Verma A. Divergent induction of branched-chain aminotransferases and phosphorylation of branched chain keto-acid dehydrogenase is a potential mechanism coupling BCKA -mediated-astrocyte activation to BCAA depletion-mediated cognitive deficit after TBI. J Neurotrauma. 2018;: pubmed publisher
  22. Feier F, Schwartz I, Benkert A, Seda Neto J, Miura I, Chapchap P, et al. Living related versus deceased donor liver transplantation for maple syrup urine disease. Mol Genet Metab. 2016;117:336-43 pubmed publisher
    ..Neither living related nor deceased donor transplant affords complete protection from metabolic intoxication, but both strategies represent viable alternatives to nutritional management. ..
  23. Cheng A, Han L, Feng Y, Li H, Yao R, Wang D, et al. MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases. Diagn Interv Radiol. 2017;23:398-402 pubmed publisher
    ..60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation...
  24. Zeltner N, Huemer M, Baumgartner M, Landolt M. Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review. Orphanet J Rare Dis. 2014;9:159 pubmed publisher
  25. Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen M, et al. The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group. JIMD Rep. 2016;27:85-91 pubmed publisher
    ..A wide spectrum of IEM are followed at adult centres. Specific knowledge of these disorders is needed to provide optimal care including up-to-date knowledge of treatments and ability to manage acute decompensation. ..
  26. Staufner C, Haack T, Feyh P, Gramer G, Raga D, Terrile C, et al. Genetic cause and prevalence of hydroxyprolinemia. J Inherit Metab Dis. 2016;39:625-632 pubmed publisher
    ..Hydroxyprolinemia is an autosomal-recessively inherited benign condition. It is a frequent cause of false positive screening results for MSUD, the prevalence being about 2.5 times higher than that of MSUD. ..
  27. Thiboonboon K, Leelahavarong P, Wattanasirichaigoon D, Vatanavicharn N, Wasant P, Shotelersuk V, et al. An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand. PLoS ONE. 2015;10:e0134782 pubmed publisher
    ..A long-term epidemiological study on the incidence of IEM in Thailand is strongly recommended to ascertain the magnitude of problem. ..
  28. Osara Y, Coakley K, Devarajan A, Singh R. Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders. Orphanet J Rare Dis. 2017;12:132 pubmed publisher
    ..NBS Connect will help clinicians understand long-term outcomes of rare disorders, contributing to better patient care and quality of life. ..
  29. Huang X, Zhang Y, Hong F, Zheng J, Yang J, Tong F, et al. [Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up]. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017;46:233-239 pubmed
    ..Patients with amino acid metabolic disorders identified in newborn screening program can have chance for normal growth development by intervention. ..
  30. Campo K, Castro G, Hamilton V, Cabello J, Raimann E, Arias C, et al. Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD). JIMD Rep. 2016;26:69-76 pubmed publisher
    ..Energy recommendations for MSUD children are according to energy expenditure; thus the use of WHO equation is a clinically and statistically feasible tool for its determination. ..
  31. Zeltner N, Landolt M, Baumgartner M, Lageder S, Quitmann J, Sommer R, et al. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents. JIMD Rep. 2017;31:1-9 pubmed publisher
    ..Age-appropriate information on the disease and psychosocial support targeted to patients' individual burdens are essential to the delivery of personalised care that takes account of physical, mental and social dimensions of HrQoL. ..
  32. Kim J, Noh J, Kim M, Park J, Song H, Kang M, et al. Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip. Anal Biochem. 2017;530:31-39 pubmed publisher
    ..Interference of other amino acids on analysis of target analyte was determined to be insignificant. From these results, MALDI-ToF MS based on parylene-matrix chip could be applicable to medical diagnosis of neonatal metabolic disorders. ..
  33. Bouchereau J, Leduc Leballeur J, Pichard S, Imbard A, Benoist J, Abi Warde M, et al. Neurocognitive profiles in MSUD school-age patients. J Inherit Metab Dis. 2017;40:377-383 pubmed publisher
    ..This pattern is important to detect in MSUD, as appropriate neuropsychological treatment strategies should be proposed. ..
  34. Evans M, Truby H, Boneh A. The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism. J Pediatr. 2017;188:163-172 pubmed publisher
    ..Most patients with IVA, MMA/PA, and UCD consume sufficient natural protein to meet FAO/WHO/UNU recommendations. A P:E ratio range of (>1.5 to < 2.9)g protein/100 kcal/day correlates with optimal growth outcomes. ..
  35. Hassan F, El Mougy F, Sharaf S, Mandour I, Morgan M, Selim L, et al. Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study. J Med Screen. 2016;23:124-9 pubmed publisher
    ..Early diagnosis and management are crucial for the survival and well-being of affected children. A nationwide NBS programme by tandem mass spectrometry is recommended. ..
  36. Dariush N, Fisher C, Cox R, Chuang D. Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex. FEBS Lett. 1991;284:34-8 pubmed
    ..The information on the gene structure for the entire mature E1 alpha subunit will facilitate investigations into the molecular basis of MSUD involving this subunit. ..
  37. Kim S, Choe J, Park K. Rebamipide Suppresses Monosodium Urate Crystal-Induced Interleukin-1β Production Through Regulation of Oxidative Stress and Caspase-1 in THP-1 Cells. Inflammation. 2016;39:473-482 pubmed publisher
    ..on activation of the NLRP3 inflammasome and generation of reactive oxygen species (ROS) in monosodium urate (MSU) crystal-induced interleukin-1β (IL-1β) production...
  38. Heo K, Sun X, Shim D, Kim M, Koppula S, Yu S, et al. Actinidia arguta extract attenuates inflammasome activation: Potential involvement in NLRP3 ubiquitination. J Ethnopharmacol. 2018;213:159-165 pubmed publisher
    ..A monosodium urate crystal (MSU)-induced peritonitis mouse model was used to study the in vivo efficacy of AA on inflammasome activation...
  39. Lin Y, Liu P, Liang W, Hu Y, Xu P, Zhou J, et al. Luteolin-4'-O-glucoside and its aglycone, two major flavones of Gnaphalium affine D. Don, resist hyperuricemia and acute gouty arthritis activity in animal models. Phytomedicine. 2018;41:54-61 pubmed publisher
    ..The model of potassium oxonate (PO)-induced hyperuricemia and monosodium urate (MSU) crystal-induced inflammation in mice has been established...
  40. Zhang B, Edenberg H, Crabb D, Harris R. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. J Clin Invest. 1989;83:1425-9 pubmed
    ..Our results revealed for the first time that a case of MSUD was caused by structural and regulatory mutations involving the E1 alpha subunit...
  41. Karkashon S, Raghupathy R, Bhatia H, Dutta A, Hess S, Higgs J, et al. Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells. Blood Cells Mol Dis. 2015;55:161-7 pubmed publisher
    ..We conclude that a family of biochemically related intermediaries of branched chain amino acid metabolism induces fetal hemoglobin during definitive erythropoiesis, with mechanisms that mirror those so far identified for butyrate. ..
  42. Páez Rojas P, Suárez Obando F. [GENETIC AND METABOLIC URGENCIES IN THE NEONATAL INTENSIVE CARE UNIT: MAPLE SYRUP URINE DISEASE]. Nutr Hosp. 2015;32:420-5 pubmed publisher
    ..Se presenta a continuación un caso colombiano de un paciente con EOJA de presentación clásica neonatal con desenlace fatal, como ejemplo de urgencia metabólica y diagnóstico diferencial en un neonato encefalopático. ..
  43. Galozzi P, Oliviero F, Frallonardo P, Favero M, Hoxha A, Scanu A, et al. The prevalence of monosodium urate and calcium pyrophosphate crystals in synovial fluid from wrist and finger joints. Rheumatol Int. 2016;36:443-6 pubmed publisher
    The aim of this study was to assess the frequency of monosodium urate (MSU) and calcium pyrophosphate (CPP) crystals in synovial fluids (SFs) aspirated from wrist and finger joints of patients with previously diagnosed joint diseases...
  44. Metzger S, Koehm M, Wichmann J, Buettner S, Scholtz J, Beeres M, et al. Dual-Energy CT in Patients with Suspected Gouty Arthritis: Effects on Treatment Regimen and Clinical Outcome. Acad Radiol. 2016;23:267-72 pubmed publisher
    ..The presence of monosodium urate (MSU) crystals in the index joint was verified with DECT...
  45. Desai J, Foresto Neto O, Honarpisheh M, Steiger S, Nakazawa D, Popper B, et al. Particles of different sizes and shapes induce neutrophil necroptosis followed by the release of neutrophil extracellular trap-like chromatin. Sci Rep. 2017;7:15003 pubmed publisher
    ..Furthermore, Mlkl-deficient mice lacked tophus formation upon injection of MSU crystals into subcutaneous air pouches...
  46. Li X, Yang Y, Gao Q, Gao M, Lv Y, Dong R, et al. Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease. Metab Brain Dis. 2018;33:741-751 pubmed publisher
    ..Presently, at least 4 genes of BCKDHA, BCKDHB, DLD and DBT have been reported to cause MSUD...
  47. Shi L, Zhao F, Zhu F, Liang Y, Yang F, Zhang G, et al. Traditional Chinese Medicine Formula "Xiaofeng granules" suppressed gouty arthritis animal models and inhibited the proteoglycan degradation on chondrocytes induced by monosodium urate. J Ethnopharmacol. 2016;191:254-263 pubmed publisher
    ..In the present study, we evaluated the anti-gouty arthritis activity of XF in rats and rabbits models induced by MSU together with chondrocytes focusing on the link to proteoglycan degradation in vitro studies...
  48. Poortmans V, Brismee J, Poortmans B, Matthijs O, Dugailly P, Sobczak S. Assessment of Lumbar Spine Height Following Sustained Lumbar Extension Posture: Comparison Between Musculoskeletal Ultrasonography and Stadiometry. J Manipulative Physiol Ther. 2016;39:586-593 pubmed publisher
    ..measured by stadiometry with lumbar spine height (LSH) modifications measured by musculoskeletal ultrasonography (MSU). Eighteen healthy young adults were recruited for this study (mean age: 21.5 ± 1.5 years)...
  49. Li T, Wang Y, Li C, Xu W, Niu F, Zhang D. [Maple syrup urine disease and gene mutations in twin neonates]. Zhongguo Dang Dai Er Ke Za Zhi. 2016;18:1242-1246 pubmed
    ..blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD). The loci with gene mutations were identified, and a bioinformatic analysis was performed...
  50. Lazaridis L, Pistiki A, Giamarellos Bourboulis E, Georgitsi M, Damoraki G, Polymeros D, et al. Activation of NLRP3 Inflammasome in Inflammatory Bowel Disease: Differences Between Crohn's Disease and Ulcerative Colitis. Dig Dis Sci. 2017;62:2348-2356 pubmed publisher
    ..disease (CD), ulcerative colitis (UC) patients and controls were stimulated with LPS in the absence or presence of MSU. After incubation, concentrations of IL-1?, IL-6, and TNF? were measured in cell supernatants and concentration of ..
  51. Aw Zoretic J, Wadhwani N, Lulla R, Rishi L, Ryan M. Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report. Childs Nerv Syst. 2015;31:1625-9 pubmed publisher
  52. Zhang H, Li L, Zhou J, Yang Q, Liu P, Xu P, et al. Effects of Gnaphalium affine D. Don on hyperuricemia and acute gouty arthritis. J Ethnopharmacol. 2017;203:304-311 pubmed publisher
    ..Therapies for acute gouty arthritis was also investigated on monosodium urate (MSU) crystal induced paw edema model. G...
  53. Zeng M, Dang W, Chen B, Qing Y, Xie W, Zhao M, et al. IL-37 inhibits the production of pro-inflammatory cytokines in MSU crystal-induced inflammatory response. Clin Rheumatol. 2016;35:2251-8 pubmed publisher
    ..which suggests that negative feedback loops control inflammatory and immunological responses to monosodium urate (MSU) crystals...
  54. Khasriya R, Barcella W, De Iorio M, Swamy S, Gill K, Kupelian A, et al. Lower urinary tract symptoms that predict microscopic pyuria. Int Urogynecol J. 2018;29:1019-1028 pubmed publisher
    Urinary dipsticks and culture analyses of a mid-stream urine specimen (MSU) at 105 cfu ml-1 of a known urinary pathogen are considered the gold standard investigations for diagnosing urinary tract infection (UTI)...
  55. Zanegina O, Kirsanov D, Baulin E, Karyagina A, Alexeevski A, Spirin S. An updated version of NPIDB includes new classifications of DNA-protein complexes and their families. Nucleic Acids Res. 2016;44:D144-53 pubmed publisher
    The recent upgrade of nucleic acid-protein interaction database (NPIDB, http://npidb.belozersky.msu.ru/) includes a newly elaborated classification of complexes of protein domains with double-stranded DNA and a classification of families ..
  56. Dhanasekar C, Kalaiselvan S, Rasool M. Morin, a Bioflavonoid Suppresses Monosodium Urate Crystal-Induced Inflammatory Immune Response in RAW 264.7 Macrophages through the Inhibition of Inflammatory Mediators, Intracellular ROS Levels and NF-κB Activation. PLoS ONE. 2015;10:e0145093 pubmed publisher
    ..In this current study, we investigated the anti-inflammatory mechanism of morin against monosodium urate crystal (MSU)-induced inflammation in RAW 264.7 macrophage cells, an in vitro model for acute gouty arthritis...
  57. Dhanasekar C, Rasool M. Morin, a dietary bioflavonol suppresses monosodium urate crystal-induced inflammation in an animal model of acute gouty arthritis with reference to NLRP3 inflammasome, hypo-xanthine phospho-ribosyl transferase, and inflammatory mediators. Eur J Pharmacol. 2016;786:116-127 pubmed publisher
    The anti-inflammatory effect of morin, a dietary bioflavanol was explored on monosodium urate (MSU) crystal-induced inflammation in rats, an experimental model for acute gouty arthritis. Morin treatment (30mg/kg b...
  58. Sideek M, Smith J, Menz C, Adams J, Cowin A, Gibson M. A Central Bioactive Region of LTBP-2 Stimulates the Expression of TGF-?1 in Fibroblasts via Akt and p38 Signalling Pathways. Int J Mol Sci. 2017;18: pubmed publisher
    ..of latent TGF-?1 complexes from matrix storage, we found that the addition of exogenous LTBP-2 to cultured human MSU-1.1 fibroblasts caused an increase in TGF-?1 levels in the medium...
  59. Yuan Y, Liu C, Xiang X, Yuan T, Qiu L, Liu Y, et al. Ultrasound scans and dual energy CT identify tendons as preferred anatomical location of MSU crystal depositions in gouty joints. Rheumatol Int. 2018;38:801-811 pubmed publisher
    The present study was performed to localize the articular deposition of monosodium urate (MSU) crystal in joints. We compare the detection efficiencies of dual-energy CT (DECT) and ultrasound scans...
  60. Lin C, Huang S. Childhood Albuminuria and Chronic Kidney Disease is Associated with Mortality and End-Stage Renal Disease. Pediatr neonatol. 2016;57:280-7 pubmed publisher
    ..A prospective cohort of 5351 children with albuminuria detected by school MSU during the period 1992-1996, followed up to 2009...
  61. Cavalcanti N, Marques C, Lins E Lins T, Pereira M, Rêgo M, Duarte A, et al. Cytokine Profile in Gout: Inflammation Driven by IL-6 and IL-18?. Immunol Invest. 2016;45:383-95 pubmed publisher
    Gout is considered to be an autoinflammatory disease and the presence of monosodium urate (MSU) crystals stimulates activation of NPRL3 inflammasome and subsequently caspase-1, generating production of active IL-1? and IL-18...
  62. Dinesh P, Rasool M. Berberine, an isoquinoline alkaloid suppresses TXNIP mediated NLRP3 inflammasome activation in MSU crystal stimulated RAW 264.7 macrophages through the upregulation of Nrf2 transcription factor and alleviates MSU crystal induced inflammation in rats. Int Immunopharmacol. 2017;44:26-37 pubmed publisher
    The current study was designed to investigate the therapeutic potential of berberine on monosodium urate (MSU) crystal stimulated RAW 264.7 macrophages and in MSU crystal induced rats...
  63. Gürke J, Hirche F, Thieme R, Haucke E, Schindler M, Stangl G, et al. Maternal Diabetes Leads to Adaptation in Embryonic Amino Acid Metabolism during Early Pregnancy. PLoS ONE. 2015;10:e0127465 pubmed publisher
    ..e. branched chain aminotransferase 2 (Bcat2), branched chain ketoacid dehydrogenase (Bckdha) and dehydrolipoyl dehydrogenase (Dld), were markedly increased in maternal adipose tissue and decreased in liver ..
  64. Rodan L, Aldubayan S, Berry G, Levy H. Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2017;: pubmed publisher
  65. Minami S, Kuroda Y, Terada Y, Yonemitsu K, Van Nguyen D, Kuwata R, et al. Detection of novel ferret coronaviruses and evidence of recombination among ferret coronaviruses. Virus Genes. 2016;52:858-862 pubmed
    ..compared with those of the other FRCoVs, indicating that the Saitama-1 strain differed from the previously reported MSU-1 and MSU-2 strains in the regions encoding spike (S) protein, nucleocapsid, and open reading frame 7b...
  66. Wang X, Wang S, Hu C, Chen W, Shen Y, Wu X, et al. A new pharmacological effect of levornidazole: Inhibition of NLRP3 inflammasome activation. Biochem Pharmacol. 2015;97:178-88 pubmed publisher
    ..The NLRP3 inflammasome could be activated by lipopolysaccharide (LPS) plus ATP or monosodium urate (MSU) in PMA-pretreated THP-1 macrophages...
  67. Peters V, Bonham J, Hoffmann G, Scott C, Langhans C. Qualitative urinary organic acid analysis: 10 years of quality assurance. J Inherit Metab Dis. 2016;39:683-687 pubmed publisher
    ..However, several aspects of reporting to non-specialists may need discussion and clinicians need to be aware of the uncertainty inherent in all forms of laboratory diagnostic analysis. ..
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    ..Newborn screening has been proven to improve outcome in patients with MSUD but the success of the program in preventing disability is also dependent on improvements in other aspects of healthcare. ..
  69. Jiang Y, Lin Y, Hu Y, Song X, Pan H, Zhang H. Caffeoylquinic acid derivatives rich extract from Gnaphalium pensylvanicum willd. Ameliorates hyperuricemia and acute gouty arthritis in animal model. BMC Complement Altern Med. 2017;17:320 pubmed publisher
    ..Therapies for acute gouty arthritis was also investigated on monosodium urate (MSU) crystal induced paw edema model. G...
  70. Zneimer S, Lau K, Eddy R, Shows T, Chuang J, Chuang D, et al. Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. Genomics. 1991;10:740-7 pubmed
    ..Mapping of the E1 beta and the E2 genes may provide information for the linkage analysis of MSUD families with mutations in these two loci. ..
  71. Deora V, Albornoz E, Zhu K, Woodruff T, Gordon R. The Ketone Body ?-Hydroxybutyrate Does Not Inhibit Synuclein Mediated Inflammasome Activation in Microglia. J Neuroimmune Pharmacol. 2017;12:568-574 pubmed publisher
    ..completely blocked all aspects of inflammasome activation and pyroptosis induced by ATP and monosodium urate (MSU) crystals, consistent with previously published reports in macrophages...
  72. Chuang J, Fisher C, Cox R, Chuang D. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Am J Hum Genet. 1994;55:297-304 pubmed
    We report the occurrence of three novel mutations in the E1 alpha (BCKDHA) locus of the branched-chain alpha-keto acid dehydrogenase (BCKAD) complex that cause maple syrup urine disease (MSUD)...
  73. Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. J Inherit Metab Dis. 2007;30:903-9 pubmed
    In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1 alpha, E1 beta and E2 subunits of the multienzyme branched-chain 2-keto acid dehydrogenase (BCKD) complex.
  74. Fernandez Guerra P, Navarrete R, Weisiger K, Desviat L, Packman S, Ugarte M, et al. Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. J Inherit Metab Dis. 2010;33 Suppl 3:S191-8 pubmed publisher
    Mutations in any of the three different genes--BCKDHA, BCKDHB, and DBT--encoding for the E1α, E1β, and E2 catalytic components of the branched-chain α-ketoacid dehydrogenase complex can cause maple syrup urine disease (MSUD)...
  75. Novarino G, El Fishawy P, Kayserili H, Meguid N, Scott E, Schroth J, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012;338:394-7 pubmed publisher
    ..Thus, autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome. ..
  76. Kettner M, Helwig S, Ragoschke Schumm A, Schwindling L, Roumia S, Keller I, et al. Prehospital Computed Tomography Angiography in Acute Stroke Management. Cerebrovasc Dis. 2017;44:338-343 pubmed publisher
    ..a computed tomography (CT) scanner, a point-of-care laboratory, and telemedicine capabilities (mobile stroke unit [MSU]) has been shown to enable the delivery of thrombolysis to stroke patients directly at the emergency site, thereby ..
  77. Fisher C, Chuang J, Cox R, Fisher C, Star R, Chuang D. Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex. J Clin Invest. 1991;88:1034-7 pubmed
    ..Moreover, this mutation impedes the assembly of E1 alpha with E1 beta into a stable alpha 2 beta 2 structure, resulting in the degradation of the free E1 beta subunit. ..
  78. Fisher C, Chuang J, Griffin T, Lau K, Cox R, Chuang D. Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex. J Biol Chem. 1989;264:3448-53 pubmed
    ..Type V includes thiamin-responsive (WG-34) and certain classical MSUD cells. These molecular phenotypes have demonstrated the complexity of MSUD and identified the affected gene in different patients for further characterization. ..
  79. Chuang J, Davie J, Chinsky J, Wynn R, Cox R, Chuang D. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. J Clin Invest. 1995;95:954-63 pubmed
    ..Moreover, the results suggest that the G245R mutant E1 alpha allele may be important in the Hispanic-Mexican population. ..
  80. Wynn R, Davie J, Chuang J, Cote C, Chuang D. Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease. J Biol Chem. 1998;273:13110-8 pubmed
    ..The mutations involving the C-terminal aromatic residues impede both the kinetics of subunit assembly and the formation of the native alpha2 beta2 structure...
  81. Lynch C, Halle B, Fujii H, Vary T, Wallin R, Damuni Z, et al. Potential role of leucine metabolism in the leucine-signaling pathway involving mTOR. Am J Physiol Endocrinol Metab. 2003;285:E854-63 pubmed
    ..The results seem more consistent with a role for BCKD and BCKD kinase in the activation of leucine metabolism/oxidation than in the activation of the leucine signal to mTOR. ..
  82. Naik M, Huang T. Conformational stability and thermodynamic characterization of the lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase. Protein Sci. 2004;13:2483-92 pubmed
    ..The average temperature of maximum stability of hbLBD is estimated as 295.6 +/- 0.9 K. Cold denaturation of hbLBD is also predicted and discussed. ..
  83. Quental S, Macedo Ribeiro S, Matos R, Vilarinho L, Martins E, Teles E, et al. Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Mol Genet Metab. 2008;94:148-56 pubmed publisher
    ..BCKD is a mitochondrial complex, encoded by four nuclear genes (BCKDHA, BCKDHB, DBT and DLD), involved in the metabolism of branched-chain amino acids (BCAAs)...
  84. Quental S, Gusmão A, Rodríguez Pombo P, Ugarte M, Vilarinho L, Amorim A, et al. Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. Ann Hum Genet. 2009;73:298-303 pubmed publisher
    ..In this study, we used four microsatellite markers closely flanking the BCKDHA gene (E1alpha protein) to demonstrate that c...
  85. Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, et al. Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. Clin Genet. 2016;90:252-7 pubmed publisher
    ..Val553Glyfs*17 in MUT, p.Thr198Serfs*6 in MMAA, p.Ile144_Leu181del in PCCB, p.Gly288Valfs*11, p.Tyr438Asn in BCKDHA and p.Ala137Val in BCKDHB gene. Interestingly, we identified seven novel genetic variants: p.Leu549Pro, p...
  86. McCourt J, Andrews T, Knight J, Merrill J, Nehm R, Pelletreau K, et al. What Motivates Biology Instructors to Engage and Persist in Teaching Professional Development?. CBE Life Sci Educ. 2017;16: pubmed publisher
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    ..Topical exposure to SGA360 was also able to mitigate joint edema in a monosodium urate (MSU) crystal gout mouse model...
  88. Zhou W, Wang Y, Wu R, He Y, Su Q, Shi G. MicroRNA-488 and -920 regulate the production of proinflammatory cytokines in acute gouty arthritis. Arthritis Res Ther. 2017;19:203 pubmed publisher
    Gout is considered one of the most painful acute conditions caused by deposition of monosodium urate (MSU) crystals within joints...
  89. Nam J, Jagga S, Sharma A, Lee J, Park J, Jung J, et al. Anti-inflammatory effects of traditional mixed extract of medicinal herbs (MEMH) on monosodium urate crystal-induced gouty arthritis. Chin J Nat Med. 2017;15:561-575 pubmed publisher
    ..in vitro and in vivo studies were carried out to assess the anti-inflammatory efficacy of MEMH on monosodium urate (MSU) crystals-induced gouty inflammation...
  90. Scott A, Cusmano Ozog K, Enns G, Cowan T. Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy. Mol Genet Metab. 2017;122:156-159 pubmed publisher
    ..The response of individual patients may vary depending on clinical status and triggering factors. ..
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    ..Among the potential intervention targets in AGA rats given by DNM, 5 metabolites were up-regulated by MSU and 5 metabolites were down regulated...