A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene
作者： Khue Vu Nguyen , Karen Leydiker , Raymond Wang , Jose Abdenur , William L. Nyhan
DOI: 10.1080/15257770.2016.1267361
关键词:
摘要: ABSTRACTWe report a patient, an infant with neurodevelopmental disorder manifesting intractable complex partial epilepsy, bull's eye maculopathy, microcephaly, bilateral cataracts, truncal hypotonia, and spasticity of all four extremities. Sequencing genomic DNA revealed mutations in (a) exon 8 (Ox-2 antigen domain) the amyloid precursor protein (APP) gene: c.1075C>T, p.Arg359* (b) senataxin (SETX) c.4738C>T, p.Arg1580Cys, (c) 2 ceroid-lipofuscinosis, neuronal (CLN8) c.685C>G, p.Pro229Ala. Using quantitative method for measurement various APP-mRNA isoforms, we found that isoform 624 bp deletion starting after 49 bp 5′ end 3 followed by complete exons 4–15, 1: c.22C>T, p.L18F, 3: c.269A>G, p.Q90R encoding APP207 was most abundant one, would appear to be responsible clinical manifestations. This is first example may underline role the...
sci-hub.se 参考文章(20)
Maud Combes, Philippe Poindron, Noelle Callizot, Glutamate protects neuromuscular junctions from deleterious effects of β‐amyloid peptide and conversely: An in vitro study in a nerve–muscle coculture Journal of Neuroscience Research. ,vol. 93, pp. 633- 643 ,(2015) , 10.1002/JNR.23524
Pamela R Westmark, James S Malter, Cara J Westmark, Ashley M Beard, Sharon M Hildebrandt, Seizure susceptibility and mortality in mice that over-express amyloid precursor protein. International Journal of Clinical and Experimental Pathology. ,vol. 1, pp. 157- 168 ,(2008)
J. M. Salbaum, A. Weidemann, H. G. Lemaire, C. L. Masters, K. Beyreuther, The promoter of Alzheimer's disease amyloid A4 precursor gene. The EMBO Journal. ,vol. 7, pp. 2807- 2813 ,(1988) , 10.1002/J.1460-2075.1988.TB03136.X
Chiara Vantaggiato, Francesca Redaelli, Sestina Falcone, Cristiana Perrotta, Alessandra Tonelli, Sara Bondioni, Michela Morbin, Daria Riva, Veronica Saletti, Maria C. Bonaglia, Roberto Giorda, Nereo Bresolin, Emilio Clementi, Maria T. Bassi, A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Human Mutation. ,vol. 30, pp. 1104- 1116 ,(2009) , 10.1002/HUMU.21012
Khue Vu Nguyen, Utilization of nucleotide probes in elisa procedure for the quantitative determination of baculovirus titer Analytical Letters. ,vol. 40, pp. 513- 528 ,(2007) , 10.1080/00032710600964791
Bhagyalaxmi S. Ganesh, Shravan K. Chintala, Inhibition of Reactive Gliosis Attenuates Excitotoxicity-Mediated Death of Retinal Ganglion Cells PLoS ONE. ,vol. 6, pp. e18305- ,(2011) , 10.1371/JOURNAL.PONE.0018305
Khue Vu Nguyen, Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. Biochemical and Biophysical Research Communications. ,vol. 446, pp. 1091- 1095 ,(2014) , 10.1016/J.BBRC.2014.03.062
Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, Ian P. Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina L. Kennerson, Bruce A. Rabin, Garth A. Nicholson, Michaela Auer-Grumbach, Klaus Wagner, Peter De Jonghe, John W. Griffin, Kenneth H. Fischbeck, Vincent Timmerman, David R. Cornblath, Phillip F. Chance, DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) American Journal of Human Genetics. ,vol. 74, pp. 1128- 1135 ,(2004) , 10.1086/421054
Khue Vu Nguyen, The human β-amyloid precursor protein: biomolecular and epigenetic aspects. Biomolecular Concepts. ,vol. 6, pp. 11- 32 ,(2015) , 10.1515/BMC-2014-0041
M. Watanabe, K. Takatsuji, H. Ito, H. Masai, T. Kawahara, Degeneration of retinal ganglion cells in the cataract affected Albino Quail (Coturnix coturnix japonica) Journal of Animal Breeding and Genetics. ,vol. 101, pp. 153- 158 ,(2010) , 10.1111/J.1439-0388.1984.TB00031.X