Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
Gillian I Rice, Jacquelyn Bond, Aruna Asipu, Rebecca L Brunette, Iain W Manfield, Ian M Carr, Jonathan C Fuller, Richard M Jackson, Teresa Lamb, Tracy A Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon P Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise A Brueton, Peter C Corry Show all
Nature Genetics | NATURE PUBLISHING GROUP | Published : 2009
Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
We thank the participating families with Aicardi-Goutieres syndrome for the use of genetic samples and clinical information. We thank all clinicians for contributing samples not included in the current manuscript. We thank C. Ponting and E. Morrison for helpful discussions and R. Smith for technical support in preparing images. This work was supported by BDF Newlife, the Royal Society, a Wellcome Trust VIP award to G. I. R., the National Institutes for Health Research Manchester Biomedical Research Centre, and the International AicardiGoutie` res syndrome Association (IAGSA).