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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
Evidence and Recommendation for Infantile Krabbe Disease Newborn Screening.
Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rose AM, Marie Comeau A, Tanksley S, DiCostanzo KP, Kemper AR.
Pediatrics. 2025 Apr 1;155(4):e2024069152. doi: 10.1542/peds.2024-069152.
PMID:40074005
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
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
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
A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.
Mohsenipour M, Nejati P, Khosravi T, Alimoradi E, Salehi M, Oladnabi M, Alibakhshi R.
BMC Med Genomics. 2025 Dec 22;18(1):198. doi: 10.1186/s12920-025-02271-9.
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Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.
Singhal K, Menold MT, Cawley NX, Campbell K, Farhat NY, Alexander D, Dale RK, Porter FD.
Biomark Res. 2026 May 9. doi: 10.1186/s40364-026-00927-x. Online ahead of print.
PMID:42106890
Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.
Singhal K, Menold MT, Cawley NX, Campbell K, Farhat NY, Alexander D, Dale RK, Porter FD.
medRxiv [Preprint]. 2026 Jan 18:2026.01.12.26343721. doi: 10.64898/2026.01.12.26343721.
PMID:41742944
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
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