The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1a
Abstract
Glycogen storage disease (GSD) type 1a is caused by the deficiency of D-glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Despite both a high incidence and morbidity, the molecular mechanisms underlying this deficiency have eluded characterization. In the present study, the molecular and biochemical characterization of the human G6Pase complementary DNA, its gene, and the expressed protein, which is indistinguishable from human microsomal G6Pase, are reported. Several mutations in the G6Pase gene of affected individuals that completely inactivate the enzyme have been identified. These results establish the molecular basis of this disease and open the way for future gene therapy.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
A simple method for displaying the hydropathic character of a protein
Kyte, J., & Doolittle, R. F. (1982) · Journal of Molecular Biology · doi:10.1016/0022-2836(82)90515-0 · Cited by 22,843
A new method for predicting signal sequence cleavage sites
von Heijne, G. (1986) · Nucleic Acids Research · doi:10.1093/nar/14.11.4683 · Cited by 4,508
The Metabolic Basis of Inherited Diseases
Winkelmann, R. K. (1972) · Archives of Dermatology · doi:10.1001/archderm.1972.01620110090032 · Cited by 1,769
Jackson, M. R., Nilsson, T., & Peterson, P. A. (1990) · The EMBO Journal · doi:10.1002/j.1460-2075.1990.tb07513.x · Cited by 908
The detection and classification of membrane-spanning proteins
Klein, P., Kanehisa, M., & DeLisi, C. (1985) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/0005-2736(85)90375-x · Cited by 835
HERS, H. G. (1964) · Advances in Metabolic Disorders · doi:10.1016/b978-1-4831-6748-0.50006-9 · Cited by 343
Holliday, R., & Grigg, G. W. (1993) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/0027-5107(93)90052-h · Cited by 336
FRAMESHIFT MUTATION: DETERMINANTS OF SPECIFICITY
Ripley, L. S. (1990) · Annual Review of Genetics · doi:10.1146/annurev.ge.24.120190.001201 · Cited by 239
Gluecksohn-Waelsch, S. (1979) · Cell · doi:10.1016/0092-8674(79)90001-1 · Cited by 218
A new microtechnique for the analysis of the human hepatic microsomal glucose-6-phosphatase system
Burchell, A., Hume, R., & Burchell, B. (1988) · Clinica Chimica Acta · doi:10.1016/0009-8981(88)90256-2 · Cited by 177
Cited by
REGULATION OF GLUCOSE PRODUCTION BY THE LIVER
Nordlie, R. C., Foster, J. D., & Lange, A. J. (1999) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.19.1.379 · Cited by 585
Glycogen Metabolism and Glycogen Storage Disorders
Kanungo, S., Wells, K., Tribett, T., & El-Gharbawy, A. (2018) · Annals of Translational Medicine · doi:10.21037/atm.2018.10.59 · Cited by 200
Rajas, F., Bruni, N., Montano, S., Zitoun, C., & Mithieux, G. (1999) · Gastroenterology · doi:10.1016/s0016-5085(99)70559-7 · Cited by 171
MicroRNA 33 Regulates Glucose Metabolism
Ramírez, C. M., Goedeke, L., Rotllan, N., Yoon, J.-H., Cirera-Salinas, D., Mattison, J. A., Suárez, Y., de Cabo, R., Gorospe, M., & Fernández-Hernando, C. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.00016-13 · Cited by 154
Metabolic dysregulation in monogenic disorders and cancer — finding method in madness
Erez, A., & DeBerardinis, R. J. (2015) · Nature Reviews Cancer · doi:10.1038/nrc3949 · Cited by 105
Metadata
- Authors
- Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., & Chou, J. Y.
- Venue
- Science
- Published
- 1993-10-22
- Volume
- 262
- Issue
- 5133
- Pages
- 580-583
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1989491629
- Cited by
- 377
- References
- 16
- FWCI
- 10.84
- Type
- journal article
- Language
- en
- Open access
- closed
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1a. https://app.cochat.ai/papers/10.1126/science.8211187
- The paper
- Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., & Chou, J. Y. (1993). Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1a. Science. https://doi.org/10.1126/science.8211187
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
