Mutant huntingtin: nuclear translocation and cytotoxicity mediated by GAPDH

BI Bae, MR Hara, MB Cascio… - Proceedings of the …, 2006 - National Acad Sciences
BI Bae, MR Hara, MB Cascio, CL Wellington, MR Hayden, CA Ross, HC Ha, XJ Li…
Proceedings of the National Academy of Sciences, 2006National Acad Sciences
The pathophysiology of Huntington's disease reflects actions of mutant Huntingtin (Htt)(mHtt)
protein with polyglutamine repeats, whose N-terminal fragment translocates to the nucleus
to elicit neurotoxicity. We establish that the nuclear translocation and associated cytotoxicity
of mHtt reflect a ternary complex of mHtt with GAPDH and Siah1, a ubiquitin-E3-ligase.
Overexpression of GAPDH or Siah1 enhances nuclear translocation of mHtt and cytotoxicity,
whereas GAPDH mutants that cannot bind Siah1 prevent translocation. Depletion of GAPDH …
The pathophysiology of Huntington’s disease reflects actions of mutant Huntingtin (Htt) (mHtt) protein with polyglutamine repeats, whose N-terminal fragment translocates to the nucleus to elicit neurotoxicity. We establish that the nuclear translocation and associated cytotoxicity of mHtt reflect a ternary complex of mHtt with GAPDH and Siah1, a ubiquitin-E3-ligase. Overexpression of GAPDH or Siah1 enhances nuclear translocation of mHtt and cytotoxicity, whereas GAPDH mutants that cannot bind Siah1 prevent translocation. Depletion of GAPDH or Siah1 by RNA interference diminishes nuclear translocation of mHtt.
National Acad Sciences
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