NAXE

Publications

Al-Amrani, F., K. Al-Thihli, E. Al-Ajmi, A. Al-Futaisi and F. Al-Murshedi (2024). "Transient response to high-dose niacin therapy in a patient with NAXE deficiency." JIMD Rep 65(4): 212-225.

Almudhry, M., C. Prasad, C. A. Rupar, K. Y. Tay and A. N. Prasad (2024). "Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report." Front Neurol 15: 1204848.

Chiu, L. W., S. S. Lin, C. H. Chen, C. H. Lin, N. C. Lee, S. Y. Hong, I. C. Chou, C. L. Lin and P. Y. Yang (2021). "NAXE gene mutation-related progressive encephalopathy: A case report and literature review." Medicine (Baltimore) 100(42): e27548.

Ding, L., T. T. Huang, G. H. Ying, S. Y. Wang, H. F. Xu, H. Qian, F. Rahman, X. P. Lu, H. Guo, G. Zheng and G. Zhang (2023). "De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report." World J Clin Cases 11(14): 3340-3350.

Kremer, L. S., K. Danhauser, D. Herebian, D. Petkovic Ramadza, D. Piekutowska-Abramczuk, A. Seibt, W. Muller-Felber, T. B. Haack, R. Ploski, K. Lohmeier, D. Schneider, D. Klee, D. Rokicki, E. Mayatepek, T. M. Strom, T. Meitinger, T. Klopstock, E. Pronicka, J. A. Mayr, I. Baric, F. Distelmaier and H. Prokisch (2016). "NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood." Am J Hum Genet 99(4): 894-902.

Manor, J., D. Calame, C. Gijavanekar, K. Fisher, J. Hunter, E. Mizerik, C. Bacino, F. Scaglia and S. H. Elsea (2022). "NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction." Mol Genet Metab 136(2): 101-110.

Marbaix, A. Y., D. Tyteca, T. D. Niehaus, A. D. Hanson, C. L. Linster and E. Van Schaftingen (2014). "Occurrence and subcellular distribution of the NADPHX repair system in mammals." Biochem J 460(1): 49-58.

Ozaki, K., Y. Yatsuka, Y. Oyazato, A. Nishiyama, K. R. Nitta, Y. Kishita, T. Fushimi, M. Shimura, S. Noma, Y. Sugiyama, M. Tagami, M. Fukunaga, H. Kinoshita, T. Hirata, W. Suda, Y. Murakawa, P. Carninci, A. Ohtake, K. Murayama and Y. Okazaki (2024). "Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy." NPJ Genom Med 9(1): 48.

Spiegel, R., A. Shaag, S. Shalev and O. Elpeleg (2016). "Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy." Neurogenetics 17(3): 187-190.

Trinh, J., S. Imhoff, M. Dulovic-Mahlow, K. K. Kandaswamy, V. Tadic, J. Schafer, V. Dobricic, A. Nolte, M. Werber, A. Rolfs, A. Munchau, C. Klein, K. Lohmann and N. Bruggemann (2019). "Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment." J Neurol.

Van Bergen, N. J., A. S. Walvekar, M. Patraskaki, T. Sikora, C. L. Linster and J. Christodoulou (2022). "Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency." J Inherit Metab Dis 45(6): 1028-1038.

Yu, D., F. M. Zhao, X. T. Cai, H. Zhou and Y. Cheng (2018). "[Clinical and genetic features of early-onset progressive encephalopathy associated with NAXE gene mutations]." Zhongguo Dang Dai Er Ke Za Zhi 20(7): 524-258.