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enolase deficiency相关文献:
Glycogen Storage Disease.
Stone WL, John TA, Anastasopoulou C, Basit H, Adil A.
2025 Jan 21. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 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
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
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
IGF-Binding Protein 7 and Cadmium-Induced Hepatorenal Fibrosis.
Xie SS, Hou R, Gao L, Yang Q, Li W, Dong ZH, Dong YH, Li SJ, Ma WX, Gao YY, Xu L, Li C, Chen Y, Yu JT, Wang JN, Ji ML, He RB, Suo XG, Liu MM, Jin J, Wen JG, Yang C, Meng XM.
J Am Soc Nephrol. 2025 Apr 10;36(9):1716-1732. doi: 10.1681/ASN.0000000698.
PMID:40208692
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
A comprehensive review of hypomagnesemia.
Ehrenpreis ED, Jarrouj G, Meader R, Wagner C, Ellis M.
Dis Mon. 2022 Feb;68(2):101285. doi: 10.1016/j.disamonth.2021.101285. Epub 2021 Sep 10.
PMID:34511254
ARID1A deficiency promotes malignant proliferation of hepatocellular carcinoma by activating HDAC7/ENO1 signaling pathway.
Zhang S, Wu G, Shi L, Ding P, Liu G, Chang W, Dai Y, Han X, Ma X.
Hepatol Commun. 2025 Jun 19;9(7):e0738. doi: 10.1097/HC9.0000000000000738. eCollection 2025 Jul 1.
PMID:40536557
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
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