9694901

Summary
Title
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
Authors
  • Hou Y
  • McInnes B
  • Hinek A
  • Karpati G
  • Mahuran D
Source
J Biol Chem
Publication Date
1998 Aug 14
PubMed ID
9694901

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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