PMC Articles for MedGen (Select 120650) - PMC

Select item 89734281.

The Metabolite Saccharopine Impairs Neuronal Development by Inhibiting the Neurotrophic Function of Glucose-6-Phosphate Isomerase

Ye Guo, Junjie Wu, Min Wang, Xin Wang, Youli Jian, Chonglin Yang, Weixiang Guo

J Neurosci. 2022 Mar 30; 42(13): 2631–2646. doi: 10.1523/JNEUROSCI.1459-21.2022

PMCID:: PMC8973428

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Select item 63634592.

The lysine catabolite saccharopine impairs development by disrupting mitochondrial homeostasis

Junxiang Zhou, Xin Wang, Min Wang, Yuwei Chang, Fengxia Zhang, Zhaonan Ban, Ruofeng Tang, Qiwen Gan, Shaohuan Wu, Ye Guo, Qian Zhang, Fengyang Wang, Liyuan Zhao, Yudong Jing, Wenfeng Qian, Guodong Wang, Weixiang Guo, Chonglin Yang

J Cell Biol. 2019 Feb 4; 218(2): 580–597. doi: 10.1083/jcb.201807204

PMCID:: PMC6363459

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Select item 57144453.

Metabolomic Analysis Reveals That the Drosophila melanogaster Gene lysine Influences Diverse Aspects of Metabolism

Samantha L. St. Clair, Hongde Li, Usman Ashraf, Jonathan A. Karty, Jason M. Tennessen

Genetics. 2017 Dec; 207(4): 1255–1261. Published online 2017 Oct 5. doi: 10.1534/genetics.117.300201

PMCID:: PMC5714445

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Select item 36266814.

Genetic basis of hyperlysinemia

Sander M Houten, Heleen te Brinke, Simone Denis, Jos PN Ruiter, Alida C Knegt, Johannis BC de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald JA Wanders, Marinus Duran

Orphanet J Rare Dis. 2013; 8: 57. Published online 2013 Apr 9. doi: 10.1186/1750-1172-8-57

PMCID:: PMC3626681

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Select item 13780375.

Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.

K A Sacksteder, B J Biery, J C Morrell, B K Goodman, B V Geisbrecht, R P Cox, S J Gould, M T Geraghty

Am J Hum Genet. 2000 Jun; 66(6): 1736–1743. Published online 2000 Apr 20. doi: 10.1086/302919

PMCID:: PMC1378037

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Select item 20838826.

Pyridoxine‐dependent seizures in Dutch patients: diagnosis by elevated urinary alpha‐aminoadipic semialdehyde levels

Levinus A Bok, Eduard Struys, Michel A A P Willemsen, Jasper V Been, Cornelis Jakobs

Arch Dis Child. 2007 Aug; 92(8): 687–689. Published online 2006 Nov 6. doi: 10.1136/adc.2006.103192

PMCID:: PMC2083882

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