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enolase deficiency相关文献:
Glycogen Storage Disease.
Stone WL, Basit H, Adil A.
2023 May 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:29083788
Enolase represents a metabolic checkpoint controlling the differential exhaustion programmes of hepatitis virus-specific CD8(+) T cells.
Winkler F, Hipp AV, Ramirez C, Martin B, Villa M, Neuwirt E, Gorka O, Aerssens J, Johansson SE, Rana N, Llewellyn-Lacey S, Price DA, Panning M, Groß O, Pearce EL, Hermann CM, Schumann K, Hannibal L, Neumann-Haefelin C, Boettler T, Knolle P, Hofmann M, Wohlleber D, Thimme R, Bengsch B.
Gut. 2023 Oct;72(10):1971-1984. doi: 10.1136/gutjnl-2022-328734. Epub 2023 Aug 4.
PMID:37541771
Energy metabolism during exercise in patients with beta-enolase deficiency (GSDXIII).
Buch AE, Musumeci O, Wigley R, Stemmerik MPG, Eisum AV, Madsen KL, Preisler N, Hilton-Jones D, Quinlivan R, Toscano A, Vissing J.
JIMD Rep. 2021 Jun 14;61(1):60-66. doi: 10.1002/jmd2.12232. eCollection 2021 Sep.
PMID:34485019
The long noncoding RNA glycoLINC assembles a lower glycolytic metabolon to promote glycolysis.
Zhu Y, Jin L, Shi R, Li J, Wang Y, Zhang L, Liang CZ, Narayana VK, De Souza DP, Thorne RF, Zhang LR, Zhang XD, Wu M.
Mol Cell. 2022 Feb 3;82(3):542-554.e6. doi: 10.1016/j.molcel.2021.11.017. Epub 2022 Jan 25.
PMID:35081364
The need for biochemical testing in beta-enolase deficiency in the genomic era.
Wigley R, Scalco RS, Gardiner AR, Godfrey R, Booth S, Kirk R, Hilton-Jones D, Houlden H, Heales S, Quinlivan R.
JIMD Rep. 2019 Sep 3;50(1):40-43. doi: 10.1002/jmd2.12070. eCollection 2019 Nov.
PMID:31741825
Axin2 coupled excessive Wnt-glycolysis signaling mediates social defect in autism spectrum disorders.
Wang M, Xian P, Zheng W, Li Z, Chen A, Xiao H, Xu C, Wang F, Mao H, Meng H, Zhao Y, Luo C, Wang Y, Wu S.
EMBO Mol Med. 2023 Jun 7;15(6):e17101. doi: 10.15252/emmm.202217101. Epub 2023 Apr 20.
PMID:37078424
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N.
Ann Neurol. 2001 Aug;50(2):202-7. doi: 10.1002/ana.1095.
PMID:11506403
Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?
Musumeci O, Brady S, Rodolico C, Ciranni A, Montagnese F, Aguennouz M, Kirk R, Allen E, Godfrey R, Romeo S, Murphy E, Rahman S, Quinlivan R, Toscano A.
J Neurol. 2014 Dec;261(12):2424-8. doi: 10.1007/s00415-014-7512-7. Epub 2014 Sep 30.
PMID:25267339
36th International Symposium on Intensive Care and Emergency Medicine : Brussels, Belgium. 15-18 March 2016.
Bateman RM, Sharpe MD, Jagger JE, Ellis CG, Solé-Violán J, López-Rodríguez M, Herrera-Ramos E, Ruíz-Hernández J, Borderías L, Horcajada J, González-Quevedo N, Rajas O, Briones M, Rodríguez de Castro F, Rodríguez Gallego C, Esen F, Orhun G, Ergin Ozcan P, Senturk E, Ugur Yilmaz C, Orhan N, Arican N, Kaya M, Kucukerden M, Giris M, Akcan U, Bilgic Gazioglu S, Tuzun E, Riff R, Naamani O, Douvdevani A, Takegawa R, Yoshida H, Hirose T, Yamamoto N, Hagiya H, Ojima M, Akeda Y, Tasaki O, Tomono K, Shimazu T, Ono S, Kubo T, Suda S, Ueno T, Ikeda T, Hirose T, Ogura H, Takahashi H, Ojima M, Kang J, Nakamura Y, Kojima T, Shimazu T, Ikeda T, Suda S, Izutani Y, Ueno T, Ono S, Taniguchi T, O M, Dinter C, Lotz J, Eilers B, Wissmann C, Lott R, Meili MM, Schuetz PS, Hawa H, Sharshir M, Aburageila M, Salahuddin N, Chantziara V, Georgiou S, Tsimogianni A, Alexandropoulos P, Vassi A, Lagiou F, Valta M, Micha G, Chinou E, Michaloudis G, Kodaira A, Ikeda T, Ono S, Ueno T, Suda S, Izutani Y, Imaizumi H, De la Torre-Prados MV, Garcia-De la Torre A, Enguix-Armada A, Puerto-Morlan A, Perez-Valero V, Garcia-Alcantara A, Bolton N, Dudziak J, Bonney S, Tridente A, Nee P, Nicolaes G, Wiewel M, Schultz M, Wildhag…
Crit Care. 2016 Apr 20;20(Suppl 2):94. doi: 10.1186/s13054-016-1208-6.
PMID:27885969
[Metabolic myopathies].
Papazian Ó, Rivas-Chacón R.
Rev Neurol. 2013 Sep 6;57 Suppl 1:S65-73.
PMID:23897158
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