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Journal Abstract Search

115 related items for PubMed ID: 38709052

  • 1. Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.
    Gürbüz BB, Gülbakan B, Özgül RK, Yalnızoğlu D, Yılmaz DY, Göçmen R, Koşukcu C, Kandemir N, Acar NV, Salih B, Dursun A.
    Am J Med Genet A; 2024 Sep; 194(9):e63645. PubMed ID: 38709052
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  • 2. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
    Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH.
    Am J Med Genet A; 2017 Feb; 173(2):460-470. PubMed ID: 27860360
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  • 4. Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.
    Escande-Beillard N, Loh A, Saleem SN, Kanata K, Hashimoto Y, Altunoglu U, Metoska A, Grandjean J, Ng FM, Pomp O, Baburajendran N, Wong J, Hill J, Beillard E, Cozzone P, Zaki M, Kayserili H, Hamada H, Shiratori H, Reversade B.
    Neuron; 2020 Jul 08; 107(1):82-94.e6. PubMed ID: 32330411
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  • 7. Disease variants of human Δ1-pyrroline-5-carboxylate reductase 2 (PYCR2).
    Patel SM, Seravalli J, Liang X, Tanner JJ, Becker DF.
    Arch Biochem Biophys; 2021 May 30; 703():108852. PubMed ID: 33771508
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  • 9. Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.
    Afroze B, Mercimek-Andrews S.
    Can J Neurol Sci; 2020 Mar 30; 47(2):280-282. PubMed ID: 31918782
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  • 10. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
    Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG.
    Ann Neurol; 2016 Jul 30; 80(1):59-70. PubMed ID: 27130255
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  • 11. PYCR in Kidney Renal Papillary Cell Carcinoma: Expression, Prognosis, Gene Regulation Network, and Regulation Targets.
    Shao Z, Lu L, Cui Y, Deng L, Xu Q, Liang Q, Lu X, Zhang J, Chen J, Situ Y.
    Front Biosci (Landmark Ed); 2022 Dec 28; 27(12):336. PubMed ID: 36624948
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  • 12. Downregulation of pyrroline-5-carboxylate reductase-2 induces the autophagy of melanoma cells via AMPK/mTOR pathway.
    Ou R, Zhang X, Cai J, Shao X, Lv M, Qiu W, Xuan X, Liu J, Li Z, Xu Y.
    Tumour Biol; 2016 May 28; 37(5):6485-91. PubMed ID: 26634742
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  • 13. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
    Baumgartner MR, Rabier D, Nassogne MC, Dufier JL, Padovani JP, Kamoun P, Valle D, Saudubray JM.
    Eur J Pediatr; 2005 Jan 28; 164(1):31-6. PubMed ID: 15517380
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  • 15. Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation.
    Torii T, Shirai R, Kiminami R, Nishino S, Sato T, Sawaguchi S, Fukushima N, Seki Y, Miyamoto Y, Yamauchi J.
    Neurol Int; 2022 Dec 16; 14(4):1062-1080. PubMed ID: 36548190
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  • 18. Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline.
    Valle D, Goodman SI, Harris SC, Phang JM.
    J Clin Invest; 1979 Nov 16; 64(5):1365-70. PubMed ID: 500817
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  • 19. PYCR2, induced by c-Myc, promotes the invasiveness and metastasis of breast cancer by activating AKT signalling pathway.
    Wu G, Qin S, Gu K, Zhou Y.
    Int J Biochem Cell Biol; 2024 Jan 16; 166():106506. PubMed ID: 38101533
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  • 20. Pyrroline-5-Carboxylate Reductase-2 Promotes Colorectal Cancer Progression via Activating PI3K/AKT/mTOR Pathway.
    Yin F, Huang X, Xuan Y.
    Dis Markers; 2021 Jan 16; 2021():9950663. PubMed ID: 34512817
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