Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?

Autor: Douglass ML; Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia., Beard H; Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia., Shoubridge A; Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia., Nazri N; Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia., King B; Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia., Trim PJ; Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia.; Mass Spectrometry Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, SAHMRI, Adelaide, South Australia, Australia., Duplock SK; Mass Spectrometry Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, SAHMRI, Adelaide, South Australia, Australia., Snel MF; Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia.; Mass Spectrometry Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, SAHMRI, Adelaide, South Australia, Australia., Hopwood JJ; Hopwood Centre for Neurobiology, Lifelong Health Theme, SAHMRI, Adelaide, South Australia, Australia., Hemsley KM; Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 May; Vol. 44 (3), pp. 763-776. Date of Electronic Publication: 2021 Jan 25.

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.