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Items: 13


In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.

Sinici I, Yonekawa S, Tkachyova I, Gray SJ, Samulski RJ, Wakarchuk W, Mark BL, Mahuran DJ.

PLoS One. 2013;8(3):e57908. doi: 10.1371/journal.pone.0057908. Epub 2013 Mar 4.


Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.

Yamada K, Takado Y, Kato YS, Yamada Y, Ishiguro H, Wakamatsu N.

J Biochem. 2013 Jan;153(1):111-9. doi: 10.1093/jb/mvs131. Epub 2012 Nov 5.


An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).

Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB.

Mol Genet Metab. 2011 Jan;102(1):6-12. doi: 10.1016/j.ymgme.2010.09.004. Epub 2010 Sep 17.


Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.

Tropak MB, Kornhaber GJ, Rigat BA, Maegawa GH, Buttner JD, Blanchard JE, Murphy C, Tuske SJ, Coales SJ, Hamuro Y, Brown ED, Mahuran DJ.

Chembiochem. 2008 Nov 3;9(16):2650-62. doi: 10.1002/cbic.200800304.


High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones.

Tropak MB, Blanchard JE, Withers SG, Brown ED, Mahuran D.

Chem Biol. 2007 Feb;14(2):153-64.


Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

Maegawa GH, Tropak M, Buttner J, Stockley T, Kok F, Clarke JT, Mahuran DJ.

J Biol Chem. 2007 Mar 23;282(12):9150-61. Epub 2007 Jan 21.


Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

Tropak MB, Reid SP, Guiral M, Withers SG, Mahuran D.

J Biol Chem. 2004 Apr 2;279(14):13478-87. Epub 2004 Jan 14.


Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.

Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN.

J Mol Biol. 2003 Apr 11;327(5):1093-109.


Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase B.

Hou Y, Vocadlo DJ, Leung A, Withers SG, Mahuran D.

Biochemistry. 2001 Feb 20;40(7):2201-9.


Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.

Zhang S, Bagshaw R, Hilson W, Oho Y, Hinek A, Clarke JT, Callahan JW.

Biochem J. 2000 Jun 15;348 Pt 3:621-32.


Role of beta Arg211 in the active site of human beta-hexosaminidase B.

Hou Y, Vocadlo D, Withers S, Mahuran D.

Biochemistry. 2000 May 23;39(20):6219-27.

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