Galactosialidosis: Simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities
Abstract
Esterase and deamidase activities at pH 7.0 and carboxypeptidase activity at pH 5.7 were markedly low or deficient in seven galactosialidosis fibroblast strains with deficient activity of "protective protein" for lysosomal beta-galactosidase and neuraminidase. No simultaneous deficiency of these three enzyme activities was observed in other lysosomal disease fibroblasts examined in this study. This result strongly suggests that "protective protein" is identical with a multifunctional protein with esterase/deamidase/carboxypeptidase activities and its mutation in galactosialidosis results in deficiency of these three enzyme activities.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Aside from cathepsin A activity at acidic pH, PPCA also functions as deamidase and esterase at neutral pH, and all enzymatic activities of PPCA were drastically reduced in lymphoblastoid cells and fibroblasts from numerous GS patients of Japanese origin.
“Aside from its cathepsin A activity at acidic pH, PPCA also functions as deamidase and esterase at neutral pH.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [45]
Cited by
Sorted by citations
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
Annunziata, I., & d’Azzo, A. (2017) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1266933 · Cited by 50 · see citing works
- Authors
- Kase, R., Itoh, K., Takiyama, N., Oshima, A., Sakuraba, H., & Suzuki, Y.
- Affiliations
- Tokyo Metropolitan Institute of Medical Science (JP)
- Venue
- Biochemical and Biophysical Research Communications
- Publisher
- Elsevier BV
- Published
- 1990-11
- Volume
- 172
- Issue
- 3
- Pages
- 1175-1179
- ISSN
- 0006-291X (ISSN-L)
- OpenAlex
- W2014485668
- Cited by
- 34
- References
- 0
- Citations by year
- 2020: 1 · 2017: 1 · 2016: 1 · 2014: 1 · 2012: 1
- FWCI
- 2.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochemical and Biophysical Research Communications (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- Ministry of Health, Labour and Welfare
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- galactosialidosis, lysosomal storage disease, acid carboxypeptidase, lysosomal beta-galactosidase, neuraminidase, protective proteins, multifunctional enzyme, fibroblasts, lysosomal enzyme activity
- MeSH terms
- Adolescent, Adult, Carbohydrate Metabolism, Inborn Errors, Carboxypeptidases, Cells, Cultured, Esterases, Female, Fibroblasts, Humans, Male, Middle Aged, Neuraminidase
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
