Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency-Reference-Cited by-同舟云学术

Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency

Published:2024-08-10 Issue:1 Volume:14 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Myers Tracey D.,Li Yizhi,Taiclet Stefanie,Cabada-Aguirre Paulina,Kuti Emily,McClure Kaitlin,Blanchard Christopher,Wolosowicz Marta,Homanics Gregg E.,Straub Adam C.,Meriney Stephen D.,Palladino Michael J.

Funder

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41598-024-69618-7.pdf

Reference35 articles.

1. Schneider, A. S., Valentine, W. N., Hattori, M. & Heins, H. L. Jr. Hereditary hemolytic anemia with triosephosphate isomerase deficiency. N Engl. J. Med. 272, 229–235. https://doi.org/10.1056/NEJM196502042720503 (1965).

2. Myers, T. D., Ferguson, C., Gliniak, E., Homanics, G. E. & Palladino, M. J. Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction. Curr. Res. Neurobiol. 3, 100062. https://doi.org/10.1016/j.crneur.2022.100062 (2022).

3. Arya, R., Lalloz, M. R., Bellingham, A. J. & Layton, D. M. Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. Hum. Mutat. 10, 290–294. https://doi.org/10.1002/(SICI)1098-1004(1997)10:4%3c290::AID-HUMU4%3e3.0.CO;2-L (1997).

4. Schneider, A. S. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. Baillieres. Best Pract. Res. Clin. Haematol. 13, 119–140. https://doi.org/10.1053/beha.2000.0061 (2000).

5. Selamioglu, A. et al. Triosephosphate isomerase deficiency: E105D mutation in unrelated patients and review of the literature. Mol. Syndromol. 14, 231–238. https://doi.org/10.1159/000528192 (2023).