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The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
PMID: 1825792 [PubMed - indexed for MEDLINE]
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Cited by 10 PubMed Central articles
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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.
[Chem Biol. 2007]
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Restricting expression prolongs expression of foreign genes introduced into animals by retroviruses.
Pinto VB, Prasad S, Yewdell J, Bennink J, Hughes SH.
J Virol. 2000 Nov; 74(21):10202-6.
[J Virol. 2000]
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The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.
Hou Y, Vavougios G, Hinek A, Wu KK, Hechtman P, Kaplan F, Mahuran DJ.
Am J Hum Genet. 1996 Jul; 59(1):52-8.
[Am J Hum Genet. 1996]
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