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3,813 results

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Page 1
Serine-deficiency syndromes.
de Koning TJ, Klomp LW. de Koning TJ, et al. Curr Opin Neurol. 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. Curr Opin Neurol. 2004. PMID: 15021249 Review.
In contrast to most neurometabolic disorders, serine-deficiency disorders are potentially treatable. Furthermore, the severe neurological symptoms observed in patients underscore the important roles of the serine biosynthetic pathway in brain tissue. . …
In contrast to most neurometabolic disorders, serine-deficiency disorders are potentially treatable. Furthermore, the severe n …
Insulin-regulated serine and lipid metabolism drive peripheral neuropathy.
Handzlik MK, Gengatharan JM, Frizzi KE, McGregor GH, Martino C, Rahman G, Gonzalez A, Moreno AM, Green CR, Guernsey LS, Lin T, Tseng P, Ideguchi Y, Fallon RJ, Chaix A, Panda S, Mali P, Wallace M, Knight R, Gantner ML, Calcutt NA, Metallo CM. Handzlik MK, et al. Nature. 2023 Feb;614(7946):118-124. doi: 10.1038/s41586-022-05637-6. Epub 2023 Jan 25. Nature. 2023. PMID: 36697822 Free PMC article.
Here we demonstrate that aberrant serine homeostasis drives serine and glycine deficiencies in diabetic mice, which can be diagnosed with a serine tolerance test that quantifies serine uptake and disposal. ...These findings identify systemic …
Here we demonstrate that aberrant serine homeostasis drives serine and glycine deficiencies in diabetic mice, which can …
α-Ketoglutarate-Activated NF-κB Signaling Promotes Compensatory Glucose Uptake and Brain Tumor Development.
Wang X, Liu R, Qu X, Yu H, Chu H, Zhang Y, Zhu W, Wu X, Gao H, Tao B, Li W, Liang J, Li G, Yang W. Wang X, et al. Mol Cell. 2019 Oct 3;76(1):148-162.e7. doi: 10.1016/j.molcel.2019.07.007. Epub 2019 Aug 22. Mol Cell. 2019. PMID: 31447391 Free article.
Here, we show that, under low glucose, GDH1 is phosphorylated at serine (S) 384 and interacts with RelA and IKKbeta. GDH1-produced alpha-KG directly binds to and activates IKKbeta and nuclear factor kappaB (NF-kappaB) signaling, which promotes glucose uptake and tumor cell …
Here, we show that, under low glucose, GDH1 is phosphorylated at serine (S) 384 and interacts with RelA and IKKbeta. GDH1-produced al …
NEK2 inhibition triggers anti-pancreatic cancer immunity by targeting PD-L1.
Zhang X, Huang X, Xu J, Li E, Lao M, Tang T, Zhang G, Guo C, Zhang X, Chen W, Yadav DK, Bai X, Liang T. Zhang X, et al. Nat Commun. 2021 Jul 27;12(1):4536. doi: 10.1038/s41467-021-24769-3. Nat Commun. 2021. PMID: 34315872 Free PMC article.
We identify NEK2 as a prognostic factor in immunologically "hot" pancreatic cancer, involved in the onset and development of pancreatic tumors in an immune-dependent manner. NEK2 deficiency results in the suppression of PD-L1 expression and enhancement of lymphocyte infilt …
We identify NEK2 as a prognostic factor in immunologically "hot" pancreatic cancer, involved in the onset and development of pancreatic tumo …
Treatment with amino acids in serine deficiency disorders.
de Koning TJ. de Koning TJ. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):347-51. doi: 10.1007/s10545-006-0269-0. J Inherit Metab Dis. 2006. PMID: 16763900 Review.
Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. ...In this paper the current practice of amino acid treatment with L-serine and glycine in serine deficiency is reviewed....
Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. ...In this paper the curre …
Vitamin B12-folate interrelationships.
Shane B, Stokstad EL. Shane B, et al. Annu Rev Nutr. 1985;5:115-41. doi: 10.1146/annurev.nu.05.070185.000555. Annu Rev Nutr. 1985. PMID: 3927946 Review.
The studies discussed in this review support the view that biochemical and clinical symptoms common to both folate and vitamin B12 deficiency are due to the induction of a functional folate deficiency, which in turn is induced by cobalamin deprivation. ...The …
The studies discussed in this review support the view that biochemical and clinical symptoms common to both folate and vitamin B12 …
Skullcapflavone II Inhibits SLC1A4-Mediated L-Serine Uptake and Promotes Mitochondrial Damage in Gastric Cancer.
Zhao J, Ma YB, Xia RH, Jiang ZC, Zhou Y, Wang YN, Yang MY, Dai JJ, Zhu T, Pan LB, Yuan L. Zhao J, et al. Adv Sci (Weinh). 2025 Dec;12(45):e17225. doi: 10.1002/advs.202417225. Epub 2025 Sep 19. Adv Sci (Weinh). 2025. PMID: 40971730 Free PMC article.
Transcriptomic and metabolomic analyses reveal that SkII treatment significantly affects serine metabolism in GC cells, and isotope tracing experiments confirmed that SkII reduces intracellular L-serine levels by inhibiting uptake rather than de novo synthesis. ...A …
Transcriptomic and metabolomic analyses reveal that SkII treatment significantly affects serine metabolism in GC cells, and isotope t …
Continuing education in neurometabolic disorders--serine deficiency disorders.
de Koning TJ, Poll-The BT, Jaeken J. de Koning TJ, et al. Neuropediatrics. 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. Neuropediatrics. 1999. PMID: 10222452 Review.
The diagnosis of serine deficiency is based on the detection of low concentrations of the amino acids serine and glycine in fasted plasma and cerebrospinal fluid (CSF). ...The clinical symptoms respond well to amino acid replacement therapy. So …
The diagnosis of serine deficiency is based on the detection of low concentrations of the amino acids serine and …
Amino acid synthesis deficiencies.
de Koning TJ. de Koning TJ. J Inherit Metab Dis. 2017 Jul;40(4):609-620. doi: 10.1007/s10545-017-0063-1. Epub 2017 Jun 26. J Inherit Metab Dis. 2017. PMID: 28653176 Free PMC article. Review.
The brain abnormalities are accompanied by skin disorders such as cutis laxa in defects of proline synthesis, collodion-like skin and ichthyosis in serine deficiency, and necrolytic erythema in glutamine deficiency. Hypomyelination with accompanying loss of b …
The brain abnormalities are accompanied by skin disorders such as cutis laxa in defects of proline synthesis, collodion-like skin and ichthy …
Serine biosynthesis and transport defects.
El-Hattab AW. El-Hattab AW. Mol Genet Metab. 2016 Jul;118(3):153-159. doi: 10.1016/j.ymgme.2016.04.010. Epub 2016 Apr 22. Mol Genet Metab. 2016. PMID: 27161889 Review.
Serine biosynthesis defects result from impairments of PGDH, PSAT, or PSP leading to systemic serine deficiency. ...A serine transport defect resulting from deficiency of the ASCT1, the main transporter for serine in the central nervous s …
Serine biosynthesis defects result from impairments of PGDH, PSAT, or PSP leading to systemic serine deficiency. ...A …
3,813 results