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Issue Date
Title
Author(s)
2004
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy
Karageorgos, L.
;
Harmatz, P.
;
Simon, J.
;
Pollard, A.
;
Clements, P.
;
Brooks, D.
;
Hopwood, J.
2004
Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
Yogalingam, G.
;
Guo, X.
;
Muller, V.
;
Brooks, D.
;
Clements, P.
;
Kakkis, E.
;
Hopwood, J.
2001
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of a-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
Keeling, K.
;
Brooks, D.
;
Hopwood, J.
;
Li, P.
;
Thompson, J.
;
Bedwell, D.
2000
Syntaxin 7 is localized to late endosome compartments, associates with Vamp 8, and is required for late endosome-lysosome fusion
Mullock, B.
;
Smith, C.
;
Ihrke, G.
;
Bright, N.
;
Lindsay, M.
;
Parkinson, E.
;
Brooks, D.
;
Parton, R.
;
James, D.
;
Luzio, J.
;
Piper, R.
;
Pelham, H.R.B.
2007
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
Shoubridge, C.
;
Cloosterman, D.
;
Parkinson-Lawrence, E.
;
Brooks, D.
;
Gecz, J.
2005
Analysis of normal and mutant iduronate-2-sulphatase conformation
Parkinson-Lawrence, E.
;
Turner, C.
;
Hopwood, J.
;
Brooks, D.
1998
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies
Bunge, S.
;
Clements, P.
;
Byers, S.
;
Kleijer, W.
;
Brooks, D.
;
Hopwood, J.
1999
Altered trafficking and turnover of LAMP-1 in Pompe disease-affected cells
Meikle, P.
;
Yan, M.
;
Ravenscroft, E.
;
Isaac, E.
;
Hopwood, J.
;
Brooks, D.
2000
Regulation of the lysosome-associated membrane protein in a sucrose model of lysosomal storage
Isaac, E.
;
Karageorgos, L.
;
Brooks, D.
;
Hopwood, J.
;
Meikle, P.
Discover
Author
7
Hopwood, J.
3
Clements, P.
2
Isaac, E.
2
Karageorgos, L.
2
Meikle, P.
2
Parkinson-Lawrence, E.
1
Bedwell, D.
1
Bright, N.
1
Bunge, S.
1
Byers, S.
.
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Subject
8
Humans
6
Animals
6
Fibroblasts
5
Mutation
4
CHO Cells
4
Cricetinae
4
Lysosomes
3
Iduronidase
3
Mucopolysaccharidosis I
3
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