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C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels.
Beckers J, Tharkeshwar AK, Van Damme P. Beckers J, et al. Autophagy. 2021 Nov;17(11):3306-3322. doi: 10.1080/15548627.2021.1872189. Epub 2021 Feb 26. Autophagy. 2021. PMID: 33632058 Free PMC article. Review.
We suggest that dysfunction of the autophagy-lysosome pathway synergizes with toxicity from C9orf72 repeat RNA and DPRs to drive disease pathogenesis.Abbreviation: ALP: autophagy-lysosome pathway; ALS: amyotrophic lateral sclerosis; AMPK: AMP-activated protein kinase; ATG: autoph …
We suggest that dysfunction of the autophagy-lysosome pathway synergizes with toxicity from C9orf72 repeat RNA and DPRs to drive disease pat …
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.
Millo T, Rivera A, Obolensky A, Marks-Ohana D, Xu M, Li Y, Wilhelm E, Gopalakrishnan P, Gross M, Rosin B, Hanany M, Webster A, Tracewska AM, Koenekoop RK, Chen R, Arno G, Schueler-Furman O, Roosing S, Banin E, Sharon D. Millo T, et al. Genet Med. 2022 Jul;24(7):1523-1535. doi: 10.1016/j.gim.2022.03.020. Epub 2022 Apr 29. Genet Med. 2022. PMID: 35486108 Free article.
RESULTS: Comprehensive analysis of 433 SLC genes in 913 exome sequencing IRD samples revealed homozygous pathogenic variants in 6 SLC genes, including 2 candidate novel genes, which were 2 variants in SLC66A1, causing autosomal recessive retinitis pigmentosa (ARRP), and a …
RESULTS: Comprehensive analysis of 433 SLC genes in 913 exome sequencing IRD samples revealed homozygous pathogenic variants in 6 SLC genes, …
Metabolomic profiling of single enlarged lysosomes.
Zhu H, Li Q, Liao T, Yin X, Chen Q, Wang Z, Dai M, Yi L, Ge S, Miao C, Zeng W, Qu L, Ju Z, Huang G, Cang C, Xiong W. Zhu H, et al. Nat Methods. 2021 Jul;18(7):788-798. doi: 10.1038/s41592-021-01182-8. Epub 2021 Jun 14. Nat Methods. 2021. PMID: 34127857
Identification of TMEM208 and PQLC2 as reference genes for normalizing mRNA expression in colorectal cancer treated with aspirin.
Zhu Y, Yang C, Weng M, Zhang Y, Yang C, Jin Y, Yang W, He Y, Wu Y, Zhang Y, Wang G, RajkumarEzakiel Redpath RJ, Zhang L, Jin X, Liu Y, Sun Y, Ning N, Qiao Y, Zhang F, Li Z, Wang T, Zhang Y, Li X. Zhu Y, et al. Oncotarget. 2017 Apr 4;8(14):22759-22771. doi: 10.18632/oncotarget.15191. Oncotarget. 2017. PMID: 28184026 Free PMC article.
Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.
Jézégou A, Llinares E, Anne C, Kieffer-Jaquinod S, O'Regan S, Aupetit J, Chabli A, Sagné C, Debacker C, Chadefaux-Vekemans B, Journet A, André B, Gasnier B. Jézégou A, et al. Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):E3434-43. doi: 10.1073/pnas.1211198109. Epub 2012 Nov 20. Proc Natl Acad Sci U S A. 2012. PMID: 23169667 Free PMC article.