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Journal Abstract Search

232 related items for PubMed ID: 33734376

  • 1. Genetic analysis of Pycr1 and Pycr2 in mice.
    Stum MG, Tadenev ALD, Seburn KL, Miers KE, Poon PP, McMaster CR, Robinson C, Kane C, Silva KA, Cliften PF, Sundberg JP, Reinholdt LG, John SWM, Burgess RW.
    Genetics; 2021 May 17; 218(1):. PubMed ID: 33734376
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  • 2. 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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  • 3. 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 28; 173(2):460-470. PubMed ID: 27860360
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  • 4. 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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  • 8. 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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  • 10. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
    Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U.
    Mol Genet Metab; 2013 Nov 08; 110(3):352-61. PubMed ID: 24035636
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  • 12. Resolving the cofactor-binding site in the proline biosynthetic enzyme human pyrroline-5-carboxylate reductase 1.
    Christensen EM, Patel SM, Korasick DA, Campbell AC, Krause KL, Becker DF, Tanner JJ.
    J Biol Chem; 2017 Apr 28; 292(17):7233-7243. PubMed ID: 28258219
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  • 13. 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 28; 194(9):e63645. PubMed ID: 38709052
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  • 14. Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis.
    Ding Z, Ericksen RE, Escande-Beillard N, Lee QY, Loh A, Denil S, Steckel M, Haegebarth A, Wai Ho TS, Chow P, Toh HC, Reversade B, Gruenewald S, Han W.
    J Hepatol; 2020 Apr 28; 72(4):725-735. PubMed ID: 31726117
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  • 16. SIRT3 regulates cancer cell proliferation through deacetylation of PYCR1 in proline metabolism.
    Chen S, Yang X, Yu M, Wang Z, Liu B, Liu M, Liu L, Ren M, Qi H, Zou J, Vucenik I, Zhu WG, Luo J.
    Neoplasia; 2019 Jul 28; 21(7):665-675. PubMed ID: 31108370
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  • 17. Screening a knowledge-based library of low molecular weight compounds against the proline biosynthetic enzyme 1-pyrroline-5-carboxylate 1 (PYCR1).
    Meeks KR, Bogner AN, Tanner JJ.
    Protein Sci; 2024 Jul 28; 33(7):e5072. PubMed ID: 39133178
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  • 18. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
    Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME.
    Am J Hum Genet; 2009 Jul 28; 85(1):120-9. PubMed ID: 19576563
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  • 19. In crystallo screening for proline analog inhibitors of the proline cycle enzyme PYCR1.
    Christensen EM, Bogner AN, Vandekeere A, Tam GS, Patel SM, Becker DF, Fendt SM, Tanner JJ.
    J Biol Chem; 2020 Dec 25; 295(52):18316-18327. PubMed ID: 33109600
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  • 20. Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.
    Sager G, Türkyilmaz A, Günbey HP, Taş İ, Ozhelvaci F, Akin Y.
    Eur J Paediatr Neurol; 2023 May 25; 44():51-56. PubMed ID: 37141741
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