User menu

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Bibliographic reference Veiga da Cunha, Maria ; Verhoeven-Duif, Nanda M ; de Koning, Tom J ; Duran, Marinus ; Dorland, Bert ; et. al. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.. In: Journal of Inherited Metabolic Disease, Vol. 36, no. 6, p. 961-966 (2013)
Permanent URL http://hdl.handle.net/2078.1/123562
  1. Dorland L., Duran M., De Bree P.K., Smith G.R., Horvath A., Tibosch A.S., Wadman S.K., O-Phosphohydroxylysinuria: a new inborn error of metabolism?, 10.1016/0009-8981(90)90203-5
  2. Duran M., Dorland L., Wadman S. K., Berger R., Group tests for selective screening of inborn errors of metabolism, 10.1007/bf02138774
  3. Hiles RA, Henderson LM (1972) The partial purification and properties of hydroxylysine kinase from rat liver. J Biol Chem 247:646–651
  4. Mantri Monica, Loik Nikita D., Hamed Refaat B., Claridge Timothy D. W., McCullagh James S. O., Schofield Christopher J., The 2-Oxoglutarate-Dependent Oxygenase JMJD6 Catalyses Oxidation of Lysine Residues to give 5S-Hydroxylysine Residues, 10.1002/cbic.201000641
  5. Okazaki Seiji, Suzuki Atsuo, Mizushima Tsunehiro, Kawano Takeshi, Komeda Hidenobu, Asano Yasuhisa, Yamane Takashi, The Novel Structure of a Pyridoxal 5′-Phosphate-Dependent Fold-Type I Racemase, α-Amino-ε-caprolactam Racemase fromAchromobacter obae†,‡, 10.1021/bi801574p
  6. Tsai CH, Henderson LM (1974) Degradation of O-phosphohydroxylysine by rat liver. Purification of the phospho-lyase. J Biol Chem 249:5784–5789
  7. 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
  8. 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
  9. 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