Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Debbie L Lang"'
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0123651 (2015)
Human keratinocytes are difficult to isolate and have a limited lifespan. Traditionally, immortalised keratinocyte cell lines are used in vitro due to their ability to bypass senescence and survive indefinitely. However these cells do not fully retai
Externí odkaz:
https://doaj.org/article/521d93d846ee4fa3824aebbc97d27fe1
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0123651 (2015)
PLoS ONE
PLoS ONE
Human keratinocytes are difficult to isolate and have a limited lifespan. Traditionally, immortalised keratinocyte cell lines are used in vitro due to their ability to bypass senescence and survive indefinitely. However these cells do not fully retai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39e057d794cc588142c4c0b6c68e53c2
https://hdl.handle.net/11541.2/115018
https://hdl.handle.net/11541.2/115018
Autor:
Maria Fuller, Peter J. Meikle, Debbie L. Lang, Michael Fietz, Justin N. Tucker, Caroline J. Dean, John Joseph Hopwood
Publikováno v:
Journal of medical genetics. 48(6)
Background Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). Design 1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a sing
Autor:
John J. Hopwood, Robert D. Jolly, Kim M. Hemsley, Barbara King, Dyane Auclair, Debbie L. Lang, Elizabeth J. Norman, Caroline J. Dean, Allison C. Crawley, Maria Fuller
Publikováno v:
Molecular genetics and metabolism. 98(4)
Mucopolysaccharidosis type IIIA (MPS IIIA) results from lack of functional sulfamidase (SGSH), a lysosomal enzyme. Its substrate, heparan sulfate, and other secondarily-stored compounds subsequently accumulate primarily within the central nervous sys
Publikováno v:
FEBS letters. 580(18)
alpha-Glucosidase (EC 3.2.1.3) is a lysosomal enzyme that hydrolyses alpha-1,4- and alpha-1,6-linkages of glycogen to produce free glucose. A deficiency in alpha-glucosidase activity results in glycogen storage disorder type II (GSD II), also called
Autor:
John J. Hopwood, Dallas J. Grasby, Douglas A. Brooks, Michael Fietz, Henrik Simonsen, Alison M. Whittle, Michelle Bockmann, Caroline J. Dean, Debbie L. Lang, Peter J. Meikle, Maria Fuller
Publikováno v:
Molecular genetics and metabolism. 88(4)
Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on the patient and family. Most patients are clinically normal at birth but develop symptoms early in childhood. Despite no curative treatment, a number