Wojtek Auerbach

TL;DR: It is demonstrated that, in mammals, Gli1 is not required for Shh signaling and that Gli2 mediates inappropriate activation of the pathway due to loss of the negative regulator Ptc.

TL;DR: The HD defect in man does not mimic complete or partial Hdh inactivation and appears to cause neurodegenerative disease by a gain-of-function mechanism.

TL;DR: In precise genetic models of juvenile HD, long polyglutamine segments change huntingtin's physical properties, producing HD-like in vivo correlates in the striatum, including nuclear localization of a version of the full-length protein predominant in medium spiny neurons, and subsequent formation of N-terminal inclusions and insoluble aggregate.

TL;DR: The results indicate that gametogenesis is the primary source of inherited instability in the Hdh knock-in mouse, but that the underlying repeat length-dependent mechanism, which may or may not be related in the two species, operates at higher CAG numbers.

TL;DR: Inactivation of Fac replicates some of the features of the human disease, leading to markedly impaired fertility, a characteristic of FA patients.