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variant defect after lysosomal translation相关文献:
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW, Pan HX, Liu Z, Wang Y, Zeng Q, Fang ZH, Luo TF, Xu K, Wang Z, Zhou X, He R, Li B, Zhao G, Xu Q, Sun QY, Yan XX, Tan JQ, Li JC, Guo JF, Tang BS.
Front Aging Neurosci. 2021 Nov 15;13:749109. doi: 10.3389/fnagi.2021.749109. eCollection 2021.
PMID:34867278
Toll-like receptor 4 is not targeted to the lysosome in cystic fibrosis airway epithelial cells.
Kelly C, Canning P, Buchanan PJ, Williams MT, Brown V, Gruenert DC, Elborn JS, Ennis M, Schock BC.
Am J Physiol Lung Cell Mol Physiol. 2013 Mar 1;304(5):L371-82. doi: 10.1152/ajplung.00372.2011. Epub 2013 Jan 11.
PMID:23316065
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.
Feng X, Cozma C, Pantoom S, Hund C, Iwanov K, Petters J, Völkner C, Bauer C, Vogel F, Bauer P, Weiss FU, Lerch MM, Knospe AM, Hermann A, Frech MJ, Luo J, Rolfs A, Lukas J.
Int J Mol Sci. 2019 Oct 19;20(20):5185. doi: 10.3390/ijms20205185.
PMID:31635081
Long-term effects of luteolin in a mouse model of nephropathic cystinosis.
De Leo E, Taranta A, Raso R, Pezzullo M, Piccione M, Matteo V, Vitale A, Bellomo F, Goffredo BM, Diomedi Camassei F, Prencipe G, Rega LR, Emma F.
Biomed Pharmacother. 2024 Sep;178:117236. doi: 10.1016/j.biopha.2024.117236. Epub 2024 Aug 2.
PMID:39096619
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium.
Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.
PMID:32808683
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
Caciotti A, Tonin R, Mort M, Cooper DN, Gasperini S, Rigoldi M, Parini R, Deodato F, Taurisano R, Sibilio M, Parenti G, Guerrini R, Morrone A.
BMC Med Genet. 2018 Oct 11;19(1):183. doi: 10.1186/s12881-018-0694-6.
PMID:30305043
Proteomic analysis of the epidermal growth factor receptor (EGFR) interactome and post-translational modifications associated with receptor endocytosis in response to EGF and stress.
Tong J, Taylor P, Moran MF.
Mol Cell Proteomics. 2014 Jul;13(7):1644-58. doi: 10.1074/mcp.M114.038596. Epub 2014 May 5.
PMID:24797263
Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders.
Schmid B, Paton BC, Sandhoff K, Harzer K.
Hum Genet. 1992 Jul;89(5):513-8. doi: 10.1007/BF00219176.
PMID:1634229
Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes.
Naganawa Y, Itoh K, Shimmoto M, Kamei S, Takiguchi K, Doi H, Sakuraba H.
Biochem J. 1999 Jun 1;340 ( Pt 2)(Pt 2):467-74. doi: 10.1042/bj3400467.
PMID:10333491
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