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283 related items for PubMed ID: 17391648

  • 1. Mutational analysis of aspartoacylase: implications for Canavan disease.
    Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA.
    Brain Res; 2007 May 07; 1148():1-14. PubMed ID: 17391648
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  • 2. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
    Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.
    J Inherit Metab Dis; 2002 Nov 07; 25(7):557-70. PubMed ID: 12638939
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  • 3. Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
    Wijayasinghe YS, Pavlovsky AG, Viola RE.
    Biochemistry; 2014 Aug 05; 53(30):4970-8. PubMed ID: 25003821
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  • 4. Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease.
    Kocak A, Yildiz M.
    J Mol Graph Model; 2017 Jun 05; 74():44-53. PubMed ID: 28349879
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  • 5. Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
    Herga S, Berrin JG, Perrier J, Puigserver A, Giardina T.
    FEBS Lett; 2006 Oct 30; 580(25):5899-904. PubMed ID: 17027983
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  • 8. A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
    Durmaz AA, Akin H, Onay H, Vahabi A, Ozkinay F.
    Fetal Pediatr Pathol; 2012 Aug 30; 31(4):236-9. PubMed ID: 22468686
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  • 9. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
    Elpeleg ON, Shaag A.
    J Inherit Metab Dis; 1999 Jun 30; 22(4):531-4. PubMed ID: 10407784
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  • 10. Mapping the degradation pathway of a disease-linked aspartoacylase variant.
    Gersing SK, Wang Y, Grønbæk-Thygesen M, Kampmeyer C, Clausen L, Willemoës M, Andréasson C, Stein A, Lindorff-Larsen K, Hartmann-Petersen R.
    PLoS Genet; 2021 Apr 30; 17(4):e1009539. PubMed ID: 33914734
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  • 11. Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
    Kaul R, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.
    Am J Hum Genet; 1996 Jul 30; 59(1):95-102. PubMed ID: 8659549
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  • 14. Expression of aspartoacylase (ASPA) and Canavan disease.
    Sommer A, Sass JO.
    Gene; 2012 Sep 01; 505(2):206-10. PubMed ID: 22750302
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  • 16. Purification and preliminary characterization of brain aspartoacylase.
    Moore RA, Le Coq J, Faehnle CR, Viola RE.
    Arch Biochem Biophys; 2003 May 01; 413(1):1-8. PubMed ID: 12706335
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