다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기
Annals of clinical and translational neurology, v.2 no.5, 2015년, pp.492 - 509
Haack, Tobias B (Institute of Human Genetics, Technische Universitä) , Jackson, Christopher B (t Mü) , Murayama, Kei (nchen 81675, Munich, Germany) , Kremer, Laura S (Institute of Clinical Chemistry and University Children's Hospital, University of Bern 3010, Bern, Switzerland) , Schaller, André (Department of Metabolism, Chiba Children's Hospital Chiba, 266-0007, Japan) , Kotzaeridou, Urania (Institute of Human Genetics, Technische Universitä) , de Vries, Maaike C (t Mü) , Schottmann, Gudrun (nchen 81675, Munich, Germany) , Santra, Saikat (Division of Human Genetics, Department of Pediatrics, University of Bern 3010, Bern, Switzerland) , Büchner, Boriana (Divisions of Inherited Metabolic Disease and Neuropediatrics, Department of General Pediatrics, University Hospital Heidelberg D-69120, Heidelberg, Germany) , Wieland, Thomas (Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Center 6525 GA, Nijmegen, The Netherlands) , Graf, Elisabeth (Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité) , Freisinger, Peter (Universitä) , Eggimann, Sandra (tsmedizin Berlin 13353, Berlin, Germany) , Ohtake, Akira (Department of Pediatrics, Birmingham Children's Hospital Birmingham, B4 6NH, United Kin) , Okazaki, Yasushi , Kohda, Masakazu , Kishita, Yoshihito , Tokuzawa, Yoshimi , Sauer, Sascha , Memari, Yasin , Kolb-Kokocinski, Anja , Durbin, Richard , Hasselmann, Oswald , Cremer, Kirsten , Albrecht, Beate , Wieczorek, Dagmar , Engels, Hartmut , Hahn, Dagmar , Zink, Alexander M , Alston, Charlotte L , Taylor, Robert W , Rodenburg, Richard J , Trollmann, Regina , Sperl, Wolfgang , Strom, Tim M , Hoffmann, Georg F , Mayr, Johannes A , Meitinger, Thomas , Bolognini, Ramona , Schuelke, Markus , Nuoffer, Jean-Marc , Kölker, Stefan , Prokisch, Holger , Klopstock, Thomas
AI-Helper
ObjectiveShort-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe the broad phenotypic spectrum and pathobiochemistry of individuals with autosomal-recessive E...
Kanazawa M Ohtake A Abe H Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase Enzyme Protein 1993 47 9 13 8012501
Pougovkina O te Brinke H Ofman R Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation Hum Mol Genet 2014 23 3513 3522 24516071
Wanders RJ Duran M Loupatty FJ Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway J Inherit Metab Dis 2012 35 5 12 21104317
Ferdinandusse S Waterham HR Heales SJ HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase Orphanet J Rare Dis 2013 8 188 24299452
Loupatty FJ Clayton PT Ruiter JP Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration Am J Hum Genet 2007 80 195 199 17160907
Peters H Buck N Wanders R ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism Brain 2014 ; The Netherlands
Rahman S Blok RB Dahl HH Leigh syndrome: clinical features and biochemical and DNA abnormalities Ann Neurol 1996 39 343 351 8602753
Haack TB Gorza M Danhauser K Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening Mol Genet Metab 2014 111 342 352 24461907
Haack TB Haberberger B Frisch EM Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing J Med Genet 2012 49 277 283 22499348
Elstner M Andreoli C Ahting U MitoP2: an integrative tool for the analysis of the mitochondrial proteome Mol Biotechnol 2008 40 306 315 18780189
Ohtake A Murayama K Mori M Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification Biochim Biophys Acta 2014 1840 1355 1359 24462578
Fong JC Schulz H Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues J Biol Chem 1977 252 542 547 833142
Luis PB Ruiter JP Ofman R Valproic acid utilizes the isoleucine breakdown pathway for its complete beta-oxidation Biochem Pharmacol 2011 82 1740 1746 21843514
Jackson CB Nuoffer JM Hahn D Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency J Med Genet 2014 51 170 175 24367056
Okun JG Kölker S Schulze A A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency Biochim Biophys Acta 2002 1584 91 98 12385891
Schwarz JM Cooper DN Schuelke M Seelow D MutationTaster2: mutation prediction for the deep-sequencing age Nat Methods 2014 11 361 362 24681721
Haack TB Hogarth P Kruer MC Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA Am J Hum Genet 2012 91 1144 1149 23176820
Gallant NM Leydiker K Tang H Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California Mol Genet Metab 2012 106 55 61 22424739
van Maldegem BT Duran M Wanders RJ Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency JAMA 2006 296 943 952 16926354
Saudubray JM Martin D de Lonlay P Recognition and management of fatty acid oxidation defects: a series of 107 patients J Inherit Metab Dis 1999 22 488 502 10407781
Tein I Disorders of fatty acid oxidation Handb Clin Neurol 2013 113 1675 1688 23622388
den Boer ME Dionisi-Vici C Chakrapani A Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement J Pediatr 2003 142 684 689 12838198
den Boer ME Wanders RJ Morris AA Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients Pediatrics 2002 109 99 104 11773547
Tonin AM Ferreira GC Grings M Disturbance of mitochondrial energy homeostasis caused by the metabolites accumulating in LCHAD and MTP deficiencies in rat brain Life Sci 2010 86 825 831 20399795
Ventura FV Ruiter J Ijlst L Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects Mol Genet Metab 2005 86 344 352 16176879
Brown GK Hunt SM Scholem R beta-Hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations Pediatrics 1982 70 532 538 7122152
Copyright KISTI. All Rights Reserved.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.