Zobrazeno 1 - 10
of 509
pro vyhledávání: '"John J, Hopwood"'
Autor:
Lauren S. Whyte, Célia Fourrier, Sofia Hassiotis, Adeline A. Lau, Paul J. Trim, Leanne K. Hein, Kathryn J. Hattersley, Julien Bensalem, John J. Hopwood, Kim M. Hemsley, Timothy J. Sargeant
Publikováno v:
IBRO Neuroscience Reports, Vol 12, Iss , Pp 131-141 (2022)
Lysosomal network abnormalities are an increasingly recognised feature of Alzheimer’s disease (AD), which appear early and are progressive in nature. Sandhoff disease and Tay-Sachs disease (neurological lysosomal storage diseases caused by mutation
Externí odkaz:
https://doaj.org/article/d1d4403666e2493b96517b7138797dcc
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
Autor:
Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 44 (2020)
Newborn screening for one or more lysosomal disorders has been implemented in several US states, Japan and Taiwan by multiplexed enzyme assays using either tandem mass spectrometry or digital microfluidics. Another multiplex assay making use of immun
Externí odkaz:
https://doaj.org/article/66e4a898e05e487fa194cc076302a01f
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 60-62 (2015)
Deficient N-sulfoglucosamine sulfohydrolase (SGSH) enzyme activity causes mucopolysaccharidosis (MPS) type IIIA. A fluorimetric SGSH activity assay is commonly used to examine patient cells. Here, we modified this method for brain homogenates and def
Externí odkaz:
https://doaj.org/article/e35af6316e95450f90480b5c0a4939dd
Autor:
Lauren S. Whyte, Kim M. Hemsley, John J. Hopwood, Timothy J. Sargeant, Sofia Hassiotis, Kathryn J. Hattersley, Adeline A. Lau
Publikováno v:
Neuroscience. 429:143-155
Lysosomal network dysfunction is a prominent feature of Alzheimer's disease (AD). Although transgenic mouse models of AD are known to model some aspects of lysosomal network dysfunction, the lysosomal network has not yet been examined in the knock-in
Autor:
Lauren S, Whyte, Célia, Fourrier, Sofia, Hassiotis, Adeline A, Lau, Paul J, Trim, Leanne K, Hein, Kathryn J, Hattersley, Julien, Bensalem, John J, Hopwood, Kim M, Hemsley, Timothy J, Sargeant
Publikováno v:
IBRO neuroscience reports. 12
Lysosomal network abnormalities are an increasingly recognised feature of Alzheimer's disease (AD), which appear early and are progressive in nature. Sandhoff disease and Tay-Sachs disease (neurological lysosomal storage diseases caused by mutations
Autor:
Allison C. Crawley, Neil Marshall, Helen Beard, Sofia Hassiotis, Vicki Walsh, Barbara King, Nicola Hucker, Maria Fuller, Robert D. Jolly, John J. Hopwood, Kim M. Hemsley
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 2, Pp 422-434 (2011)
There is no treatment for the progressive neurodegenerative lysosomal storage disorder mucopolysaccharidosis type IIIA (MPS IIIA), which occurs due to a deficiency of functional N-sulfoglucosamine sulfohydrolase (SGSH), with subsequent accumulation o
Externí odkaz:
https://doaj.org/article/5ecb4e4f030a40c99337b7dd57f5923f
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:
John J. Hopwood, Marten F. Snel, Paul J. Trim, Adeline A. Lau, Qi Qi He, Barbara King, Vito Ferro, Kim M. Hemsley
Publikováno v:
ACS Chemical Neuroscience. 10:3847-3858
Heparan sulfate (HS) is a complex polysaccharide from the glycosaminoglycan (GAG) family that accumulates in tissues in several neurological lysosomal storage diseases known as mucopolysaccharidosis (MPS) disorders. The quantitation of HS in biologic
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