Correction of combined β-galactosidase/neuraminidase deficiency in human fibroblasts
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The corrective factor secreted in the medium and capable of restoring NEU1 and β-GAL activities in GS fibroblasts was discovered because of its physical association with β-GAL.
“The identity of this “corrective factor” secreted in the medium and capable of restoring NEU1 and β-GAL activities in GS fibroblasts was eventually discovered fortuitously because of its physical association with β-GAL 4,5.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [4]
Co-culturing fibroblasts with combined NEU1/β-GAL deficiency with fibroblasts with isolated NEU1 deficiency partially corrected NEU1 activity in the former cells.
“Yet, co-culturing of fibroblasts with a combined NEU1/β-GAL deficiency with fibroblasts with an isolated NEU1 deficiency partially corrected NEU1 activity in the former cells, raising the possibility that a third gene product was involved in GS.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [4]
Cites
Hasilik, A., Waheed, A., & von Figura, K. (1981) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(81)91177-3 · Cited by 295 · see citing works
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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
Self-citation
- Authors
- Hoogeveen, A., d'Azzo, A., Brossmer, R., & Galjaard, H.
- Affiliations
- Erasmus University Rotterdam (NL)
- Heidelberg University (DE)
- Venue
- Biochemical and Biophysical Research Communications
- Publisher
- Elsevier BV
- Published
- 1981-11
- Volume
- 103
- Issue
- 1
- Pages
- 292-300
- ISSN
- 0006-291X (ISSN-L)
- OpenAlex
- W2167052275
- Cited by
- 39
- References
- 1
- Citations by year
- 2016: 1
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochemical and Biophysical Research Communications (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Glycosylation and Glycoproteins Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- beta-galactosidase deficiency, neuraminidase deficiency, human fibroblasts, mannose-6-phosphate, mannose 6-phosphate receptor, enzyme replacement therapy, lysosomal storage disease
- MeSH terms
- Adult, Ammonium Chloride, beta-Galactosidase, Cells, Cultured, Child, Preschool, Concanavalin A, Female, Fibroblasts, Galactosidases, Gangliosidoses, Humans, Infant, Kinetics, Lactose Intolerance, Liver, Male, Neuraminidase, Placenta, Pregnancy, Skin, Tissue Extracts
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.
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