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• W2076695719 abstract "Sialidosis is a lysosomal storage disease caused by the deficiency of alpha-N-acetylneuraminidase (NEU1; sialidase), the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates. We have identified a homozygous transversion in the last intron (IVSE +1 G>C) in neu1 of a sialidosis patient. Sequencing of the truncated cDNA revealed an alternatively spliced neu1 transcript which lacks the complete sequence of exon 5. Skipping of exon 5 leads to a frameshift and results in a premature termination codon. This is the first description of an intronic point mutation causing a complete deficiency of the lysosomal neuraminidase activity." @default.
• W2076695719 created "2016-06-24" @default.
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• W2076695719 date "2001-07-17" @default.
• W2076695719 modified "2023-10-02" @default.
• W2076695719 title "Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient" @default.
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• W2076695719 doi "https://doi.org/10.1016/s0014-5793(01)02645-x" @default.
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• W2076695719 hasPublicationYear "2001" @default.
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