Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Stephen Duplock"'
Autor:
Litsa Karageorgos, Leanne Hein, Tina Rozaklis, Melissa Adams, Stephen Duplock, Marten Snel, Kim Hemsley, Tim Kuchel, Nicholas Smith, John J. Hopwood
Publikováno v:
Neurobiology of Disease, Vol 91, Iss , Pp 143-154 (2016)
Gaucher disease arises from mutations in the β-glucocerebrosidase gene which encodes an enzyme required for the lysosomal catabolism of glucosylceramide. We have identified a naturally occurring mutation in the β-glucocerebrosidase gene in sheep th
Externí odkaz:
https://doaj.org/article/dbd473fdfc5f44738c17397641270c4e
Publikováno v:
Journal of Lipid Research, Vol 54, Iss 6, Pp 1691-1697 (2013)
Bis(monoacylglycero)phosphate (BMP) assists lysosomal function by facilitating interaction of hydrolases and activator proteins with sphingolipid substrates. Impaired lysosomal degradation of the sphingolipid glucosylceramide (GC) occurs in Gaucher d
Externí odkaz:
https://doaj.org/article/4b14dac719f6427a949918db6f06c6ab
Publikováno v:
Journal of Lipid Research, Vol 49, Iss 8, Pp 1725-1734 (2008)
The formation of cholesterol and sphingolipids into specialized liquid-ordered membrane microdomains (rafts) has been proposed to function in the intracellular sorting and transport of proteins and lipids. Defined by biochemical criteria, rafts resis
Externí odkaz:
https://doaj.org/article/b0a6fd0c79ce4b5b8ab36fca496b40fd
Autor:
Daniel Neumann, Paul J. Trim, John J. Hopwood, Helen Beard, Stephen Duplock, Marten F. Snel, K. Soe, Kim M. Hemsley
Publikováno v:
Neuropathology and Applied Neurobiology. 45:715-731
BACKGROUND Sanfilippo syndrome (mucopolysaccharidosis type IIIA; MPS IIIA) is an inherited paediatric-onset neurodegenerative disorder caused by the lysosomal deficiency of sulphamidase with subsequent accumulation of heparan sulphate. The pathologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1d6ec3f0f0d025f1419a3414ef0f85d
https://doi.org/10.1111/nan.12548
https://doi.org/10.1111/nan.12548
Autor:
Paul J. Trim, Barbara King, Marten F. Snel, Andrew Shoubridge, Nazzmer Nazri, Meghan L. Douglass, John J. Hopwood, Stephen Duplock, Helen Beard, Kim M. Hemsley
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(3)
Lysosomal dysfunction may be an important factor in the pathogenesis of neurodegenerative disorders such as Parkinson's disease (PD). Heterozygous mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1) have been found in PD pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc6afa6467dcac6a339191ab1dd27b9c
https://pubmed.ncbi.nlm.nih.gov/33423317
https://pubmed.ncbi.nlm.nih.gov/33423317
Autor:
Sofia Hassiotis, Paul J. Trim, Meghan L. Setford, John J. Hopwood, Marten F. Snel, Barbara King, Stephen Duplock, Justin N. Tucker, Kim M. Hemsley, Kathryn J. Hattersley
Publikováno v:
Experimental Neurology. 278:11-21
Aim To determine the capacity of continual low-dose lysosomal enzyme infusion into the cerebrospinal fluid of mucopolysaccharidosis type IIIA (MPS IIIA) mice to reverse established neurodegenerative disease. The rationale behind the study is that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a2d2f5c07d865b27b3a853aa477c8b
https://doi.org/10.1016/j.expneurol.2015.11.013
https://doi.org/10.1016/j.expneurol.2015.11.013
Autor:
Leanne K. Winner, Marten F. Snel, Stephen Duplock, Robert D. Jolly, Kim M. Hemsley, Paul J. Trim, Neil R. Marshall
Publikováno v:
JIMD Reports ISBN: 9783662586136
Mucopolysaccharidosis IIIA (MPS IIIA) is an inherited neurodegenerative disease of childhood that results in early death. Post-mortem studies have been carried out on human MPS IIIA brain, but little is known about early disease development. Here, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf920ac1e784362d04e51028e490bfc4
https://doi.org/10.1007/8904_2018_110
https://doi.org/10.1007/8904_2018_110
Autor:
Kim M. Hemsley, Sandra Orgeig, Stephen Duplock, Tamara L. Paget, Marten F. Snel, Emma J. Parkinson-Lawrence
Publikováno v:
Airway Cell Biology and Immunopathology.
Mucopolysaccharidosis (MPS) type IIIA is a lysosomal storage disorder characterised by primary storage of heparan sulphate (HS) and secondary storage of gangliosides and cholesterol in brain and liver. MPS IIIA patients exhibit airway obstruction, re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66b0b4839c3a155931b8a336c8000fd7
https://doi.org/10.1183/1393003.congress-2017.pa2029
https://doi.org/10.1183/1393003.congress-2017.pa2029
Autor:
Marten F. Snel, John J. Hopwood, Sofia Hassiotis, Carly L. Thorsen, Stephen Duplock, Kim M. Hemsley, Lauren S. Whyte, Adeline A. Lau, Helen Beard, Paul J. Trim, Sarah J. Tamang, Barbara King
Publikováno v:
Journal of inherited metabolic disease. 40(5)
Mucopolysaccharidosis (MPS) type IIIA, or Sanfilippo syndrome, is a neurodegenerative lysosomal storage disorder caused by a deficiency of the lysosomal enzyme N-sulfoglucosamine sulfohydrolase (SGSH), involved in the catabolism of heparan sulfate. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e4cf098accd6d90ab85b12f9eaf2690
https://pubmed.ncbi.nlm.nih.gov/28451919
https://pubmed.ncbi.nlm.nih.gov/28451919
Publikováno v:
Analytical Biochemistry. 458:20-26
GM2 gangliosidosis is a group of inherited neurodegenerative disorders resulting primarily from the excessive accumulation of GM2 gangliosides (GM2) in neuronal cells. As biomarkers for categorising patients and monitoring the effectiveness of develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::787afa0c5d76626bf345be3a89d5bf24
https://doi.org/10.1016/j.ab.2014.04.018
https://doi.org/10.1016/j.ab.2014.04.018