Associated Papers
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.
Geng H et al.
Plos One, 2011
Molecular bases of metachromatic leukodystrophy in Polish patients.
Lugowska A et al.
Journal of Human Genetics, 2010
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
Poeppel P et al.
The Febs Journal, 2005
The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.
Schestag F et al.
The Biochemical Journal, 2002
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
Hermann S et al.
American Journal of Medical Genetics, 2000
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Qu Y et al.
Molecular Genetics and Metabolism, 1999
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
Gomez-Lira M et al.
Human Genetics, 1998
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
Hess B et al.
Human Mutation, 1996
Identification of seven novel mutations associated with metachromatic leukodystrophy.
Barth ML et al.
Human Mutation, 1995
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