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Results 11-20 of 34 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2002Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar networkBradford, T.; Litjens, T.; Parkinson, E.; Hopwood, J.; Brooks, D.
2001Glycosidase active site mutations in human a-L-iduronidaseBrooks, D.; Fabrega, S.; Hein, L.; Parkinson, E.; Durand, P.; Yogalingam, G.; Matte, U.; Giugliani, R.; Dasvarma, A.; Eslahpazire, J.; Henrissat, B.; Mornon, J.; Hopwood, J.; Lehn, P.
2001Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of a-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulationKeeling, K.; Brooks, D.; Hopwood, J.; Li, P.; Thompson, J.; Bedwell, D.
2000Syntaxin 7 is localized to late endosome compartments, associates with Vamp 8, and is required for late endosome-lysosome fusionMullock, 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.
2004a-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patientsHein, L.; Bawden, M.; Muller, V.; Sillence, D.; Hopwood, J.; Brooks, D.
2003Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorderBrooks, D.; Kakavanos, R.; Hopwood, J.
2005Prediction of neuropathology in mucopolysaccharidosis I patientsFuller, M.; Brooks, D.; Evangelista, M.; Hein, L.; Hopwood, J.; Meikle, P.
2003Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapyAuclair, D.; Hopwood, J.; Brooks, D.; Lemontt, J.; Crawley, A.
2003Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patientsMatte, U.; Yogalingam, G.; Brooks, D.; Leistner, S.; Schwartz, I.; Lima, L.; Norato, D.; Brum, J.; Beesley, C.; Winchester, B.; Giugliani, R.; Hopwood, J.
2007Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox geneShoubridge, C.; Cloosterman, D.; Parkinson-Lawrence, E.; Brooks, D.; Gecz, J.

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