Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.Y249N
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CTSA

NM_000308.4:p.Y249N

Associated Papers

Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

Takiguchi K et al.

Journal of Human Genetics, 2000

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.

Callahan JW

Biochimica Et Biophysica Acta, 1999

Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes.

Naganawa Y et al.

The Biochemical Journal, 1999

[Multifunctional protective protein and its genetic deficiency 'galactosialidosis'].

Sakuraba H et al.

Seikagaku. the Journal of Japanese Biochemical Society, 1993

Protective protein gene mutations in galactosialidosis.

Shimmoto M et al.

The Journal of Clinical Investigation, 1993

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."