These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
7. Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments. Murtinheira F; Migueis M; Letra-Vilela R; Diallo M; Quezada A; Valente CA; Oliva A; Rodriguez C; Martin V; Herrera F Cells; 2022 Jan; 11(2):. PubMed ID: 35053415 [TBL] [Abstract][Full Text] [Related]
8. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Samanci B; Gokalp EE; Bilgic B; Gurvit H; Artan S; Hanagasi HA Neurol Sci; 2021 Jul; 42(7):2969-2973. PubMed ID: 33559790 [TBL] [Abstract][Full Text] [Related]
9. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Girard M; Larivière R; Parfitt DA; Deane EC; Gaudet R; Nossova N; Blondeau F; Prenosil G; Vermeulen EG; Duchen MR; Richter A; Shoubridge EA; Gehring K; McKinney RA; Brais B; Chapple JP; McPherson PS Proc Natl Acad Sci U S A; 2012 Jan; 109(5):1661-6. PubMed ID: 22307627 [TBL] [Abstract][Full Text] [Related]
10. The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics. Francis V; Alshafie W; Kumar R; Girard M; Brais B; McPherson PS J Biol Chem; 2022 Sep; 298(9):102320. PubMed ID: 35933016 [TBL] [Abstract][Full Text] [Related]
11. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Parfitt DA; Michael GJ; Vermeulen EG; Prodromou NV; Webb TR; Gallo JM; Cheetham ME; Nicoll WS; Blatch GL; Chapple JP Hum Mol Genet; 2009 May; 18(9):1556-65. PubMed ID: 19208651 [TBL] [Abstract][Full Text] [Related]
12. Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay. De Ritis D; Ferrè L; De Winter J; Tremblay-Desbiens C; Blais M; Bassi MT; Dupré N; Baets J; Filippi M; Maltecca F Brain Commun; 2024; 6(4):fcae243. PubMed ID: 39091421 [TBL] [Abstract][Full Text] [Related]
13. Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Kozlov G; Denisov AY; Girard M; Dicaire MJ; Hamlin J; McPherson PS; Brais B; Gehring K J Biol Chem; 2011 Jun; 286(23):20407-12. PubMed ID: 21507954 [TBL] [Abstract][Full Text] [Related]
14. Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS. Nethisinghe S; Abeti R; Kesavan M; Wigley WC; Giunti P Int J Mol Sci; 2021 Oct; 22(21):. PubMed ID: 34769152 [TBL] [Abstract][Full Text] [Related]
16. Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations. Ménade M; Kozlov G; Trempe JF; Pande H; Shenker S; Wickremasinghe S; Li X; Hojjat H; Dicaire MJ; Brais B; McPherson PS; Wong MJH; Young JC; Gehring K J Biol Chem; 2018 Aug; 293(33):12832-12842. PubMed ID: 29945973 [TBL] [Abstract][Full Text] [Related]
17. [Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay]. Fu R; Ding M; Lu Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):121-124. PubMed ID: 36585015 [TBL] [Abstract][Full Text] [Related]
18. Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy. Morani F; Doccini S; Sirica R; Paterno M; Pezzini F; Ricca I; Simonati A; Delledonne M; Santorelli FM Sci Rep; 2019 Aug; 9(1):11878. PubMed ID: 31417125 [TBL] [Abstract][Full Text] [Related]
19. Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization. Romano LEL; Aw WY; Hixson KM; Novoselova TV; Havener TM; Howell S; Taylor-Blake B; Hall CL; Xing L; Beri J; Nethisinghe S; Perna L; Hatimy A; Altadonna GC; Graves LM; Herring LE; Hickey AJ; Thalassinos K; Chapple JP; Wolter JM Cell Rep; 2022 Nov; 41(5):111580. PubMed ID: 36323248 [TBL] [Abstract][Full Text] [Related]
20. Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis. Longo F; De Ritis D; Miluzio A; Fraticelli D; Baets J; Scarlato M; Santorelli FM; Biffo S; Maltecca F Neurology; 2021 Dec; 97(23):e2315-e2327. PubMed ID: 34649874 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]