The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

Biochim Biophys Acta. 1991 Feb 22;1096(2):87-94. doi: 10.1016/0925-4439(91)90044-a.
No abstract available

Publication types

  • Review

MeSH terms

  • Biological Transport
  • G(M2) Ganglioside / metabolism*
  • Genes
  • Hexosaminidase A
  • Hexosaminidase B
  • Humans
  • Isoenzymes / genetics
  • Macromolecular Substances
  • Mutation
  • RNA Processing, Post-Transcriptional
  • Sandhoff Disease / genetics*
  • Tay-Sachs Disease / genetics*
  • beta-N-Acetylhexosaminidases / genetics*

Substances

  • Isoenzymes
  • Macromolecular Substances
  • G(M2) Ganglioside
  • Hexosaminidase A
  • Hexosaminidase B
  • beta-N-Acetylhexosaminidases