User menu

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.

Bibliographic reference Marlaire, Simon ; Van Schaftingen, Emile ; Veiga da Cunha, Maria. C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.. In: Journal of Inherited Metabolic Disease, Vol. 37, no. 1, p. 13-9 (2014)
Permanent URL http://hdl.handle.net/2078.1/139951
  1. Alfares A., Nunez L. D., Al-Thihli K., Mitchell J., Melancon S., Anastasio N., Ha K. C. H., Majewski J., Rosenblatt D. S., Braverman N., Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype, 10.1136/jmedgenet-2011-100230
  2. Amendt B A, Rhead W J, The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts., 10.1172/jci112553
  3. Bennett M. J., Pollitt R. J., Goodman S. I., Hale D. E., Vamecq J., Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder, 10.1007/bf01800589
  4. Berthold Catrine L., Toyota Cory G., Richards Nigel G. J., Lindqvist Ylva, Reinvestigation of the Catalytic Mechanism of Formyl-CoA Transferase, a Class III CoA-transferase, 10.1074/jbc.m709353200
  5. Bonthron David T., Brady Nlcola, Donaldson lain A., Steinmann Beat, Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase), 10.1093/hmg/3.9.1627
  6. Bouteldja Nadia, Timson David J., The biochemical basis of hereditary fructose intolerance, 10.1007/s10545-010-9053-2
  7. Danhauser Katharina, Sauer Sven W., Haack Tobias B., Wieland Thomas, Staufner Christian, Graf Elisabeth, Zschocke Johannes, Strom Tim M., Traub Thorsten, Okun Jürgen G., Meitinger Thomas, Hoffmann Georg F., Prokisch Holger, Kölker Stefan, DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria, 10.1016/j.ajhg.2012.10.006
  8. Deana R (1992) Substrate specificity of a dicarboxyl-CoA: dicarboxylic acid coenzyme A transferase from rat liver mitochondria. Biochem Int 26:767–773
  9. Emanuelsson Olof, Nielsen Henrik, Brunak Søren, von Heijne Gunnar, Predicting Subcellular Localization of Proteins Based on their N-terminal Amino Acid Sequence, 10.1006/jmbi.2000.3903
  10. FitzPatrick David R., Hill Alison, Tolmie John L., Thorburn David R., Christodoulou John, The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency, 10.1086/302492
  11. Francesconi Maria Angela, Donella-Deana Arianna, Furlanetto Valerio, Cavallini Lucia, Palatini Pietro, Deana Renzo, Further purification and characterization of the succinyl-CoA:3-hydroxy-3-methylglutarate coenzyme A transferase from rat-liver mitochondria, 10.1016/0167-4838(89)90213-6
  12. Fu Zhuji, Wang Ming, Paschke Rosemary, Rao K. Sudhindra, Frerman Frank E., Kim Jung-Ja P., Crystal Structures of Human Glutaryl-CoA Dehydrogenase with and without an Alternate Substrate:  Structural Bases of Dehydrogenation and Decarboxylation Reactions†,‡, 10.1021/bi049290c
  13. Goodman Stephen I., Stene Dan O., McCabe Edward R.B., Norenberg Michael D., Shikes Robert H., Stumpf David A., Blackburn Glen K., Glutaric acidemia type II: Clinical, biochemical, and morphologic considerations, 10.1016/s0022-3476(82)80525-8
  14. Goodman SI, Frerman FE (2001) Organic acidemias due to defects in lysine oxidation: 2-ketoadipic academia and glutaric academia. In: Scriver CR, Beaudet AL, Valle D, Childs B, Kinzler KW, Vogelstein B (eds). The metabolic and molecular bases of inherited disease, 8th edn. Chap. 95, pp 2195–2204. McGraw-Hill, New York
  15. Gregersen N., Kølvraa S., Rasmussen K., Christensen E., Brandt N. J., Ebbesen F., Hansen F. H., Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II, 10.1007/bf02312527
  16. Knerr I., Zschocke J., Trautmann U., Dorland L., de Koning T. J., Müller P., Christensen E., Trefz F. K., Wündisch G. F., Rascher W., Hoffmann G. F., 10.1023/a:1021207419125
  17. Kölker Stefan, Christensen Ernst, Leonard James V., Greenberg Cheryl R., Boneh Avihu, Burlina Alberto B., Burlina Alessandro P., Dixon Marjorie, Duran Marinus, García Cazorla Angels, Goodman Stephen I., Koeller David M., Kyllerman Mårten, Mühlhausen Chris, Müller Edith, Okun Jürgen G., Wilcken Bridget, Hoffmann Georg F., Burgard Peter, Diagnosis and management of glutaric aciduria type I – revised recommendations, 10.1007/s10545-011-9289-5
  18. Sloan Jennifer L, Johnston Jennifer J, Manoli Irini, Chandler Randy J, Krause Caitlin, Carrillo-Carrasco Nuria, Chandrasekaran Suma D, Sysol Justin R, O'Brien Kevin, Hauser Natalie S, Sapp Julie C, Dorward Heidi M, Huizing Marjan, Barshop Bruce A, Berry Susan A, James Philip M, Champaigne Neena L, de Lonlay Pascale, Valayannopoulos Vassilli, Geschwind Michael D, Gavrilov Dimitar K, Nyhan William L, Biesecker Leslie G, Venditti Charles P, Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria, 10.1038/ng.908
  19. Sherman Eric A., Strauss Kevin A., Tortorelli Silvia, Bennett Michael J., Knerr Ina, Morton D. Holmes, Puffenberger Erik G., Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10, 10.1016/j.ajhg.2008.09.018
  20. Swigoňová Zuzana, Mohsen Al-Walid, Vockley Jerry, Acyl-CoA Dehydrogenases: Dynamic History of Protein Family Evolution, 10.1007/s00239-009-9263-0
  21. Veiga-da-Cunha Maria, Hadi Farah, Balligand Thomas, Stroobant Vincent, Van Schaftingen Emile, Molecular Identification of Hydroxylysine Kinase and of Ammoniophospholyases Acting on 5-Phosphohydroxy-l-lysine and Phosphoethanolamine, 10.1074/jbc.m111.323485
  22. Veiga-da-Cunha M, Verhoeven-Duif NM, de Koning TJ, Duran M, Dorland B, Van Schaftingen E (2013) Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria. J Inherit Metab Dis. 2012 Dec 14 Epub ahead of print
  23. Veiga-da-Cunha Maria, Tyteca Donatienne, Stroobant Vincent, Courtoy Pierre J., Opperdoes Fred R., Van Schaftingen Emile, Molecular Identification of NAT8 as the Enzyme That Acetylates CysteineS-Conjugates to Mercapturic Acids, 10.1074/jbc.m110.110924
  24. Verhoeven Nanda M., Huck Jojanneke H.J., Roos Birthe, Struys Eduard A., Salomons Gajja S., Douwes Adriaan C., van der Knaap Marjo S., Jakobs Cornelis, Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway, 10.1086/320108
  25. Wamelink Mirjam M.C., Struys Eduard A., Jansen Erwin E.W., Levtchenko Elena N., Zijlstra Fokje S.M., Engelke Udo, Blom Henk J., Jakobs Cornelis, Wevers Ron A., Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of theCARKLgene, 10.1002/humu.20685
  26. Wendel U., Bakkeren J., de Jong J., Bongaerts G., Glutaric aciduria mediated by gut bacteria, 10.1007/bf00710431
  27. Wiame Elsa, Tyteca Donatienne, Pierrot Nathalie, Collard François, Amyere Mustapha, Noel Gaëtane, Desmedt Jonathan, Nassogne Marie-Cécile, Vikkula Miikka, Octave Jean-Noël, Vincent Marie-Françoise, Courtoy Pierre J., Boltshauser Eugen, van Schaftingen Emile, Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia, 10.1042/bj20091024