A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.

Autor: Lau AA; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia. adeline.lau@sahmri.com., King BM; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Thorsen CL; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Hassiotis S; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Beard H; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Trim PJ; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Whyte LS; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Tamang SJ; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Duplock SK; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Snel MF; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Hopwood JJ; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia., Hemsley KM; Lysosomal Diseases Research Unit, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, SA, 5001, Australia.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 Sep; Vol. 40 (5), pp. 715-724. Date of Electronic Publication: 2017 Apr 27.