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2015 3
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41 results
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Page 1
Metabolic phenotype of bladder cancer.
Massari F, Ciccarese C, Santoni M, Iacovelli R, Mazzucchelli R, Piva F, Scarpelli M, Berardi R, Tortora G, Lopez-Beltran A, Cheng L, Montironi R. Massari F, et al. Cancer Treat Rev. 2016 Apr;45:46-57. doi: 10.1016/j.ctrv.2016.03.005. Epub 2016 Mar 8. Cancer Treat Rev. 2016. PMID: 26975021 Free article. Review.
In particular, the overexpression of GLUT-1, the loss of the tumor suppressor glycogen debranching enzyme amylo-alpha-1,6-glucosidase, 4-alpha-glucanotransferase (AGL), and the increased activity of the tumor promoter enzyme glycogen phos …
In particular, the overexpression of GLUT-1, the loss of the tumor suppressor glycogen debranching enzyme amylo-alpha-1 …
Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease.
Hussain I, Patni N, Garg A. Hussain I, et al. Pathology. 2019 Feb;51(2):202-212. doi: 10.1016/j.pathol.2018.11.004. Epub 2018 Dec 27. Pathology. 2019. PMID: 30595509 Free PMC article. Review.
Patients with CGL, AGL and FPLD have increased prevalence of dyslipidaemia but those with APL do not. Patients with CGL as well as AGL present in childhood, and have severe dyslipidaemias (mainly hypertriglyceridaemia) and early onset diabetes mellitus as a conseque …
Patients with CGL, AGL and FPLD have increased prevalence of dyslipidaemia but those with APL do not. Patients with CGL as well as …
Generalized lipoatrophy syndromes.
Sorkina E, Chichkova V. Sorkina E, et al. Presse Med. 2021 Nov;50(3):104075. doi: 10.1016/j.lpm.2021.104075. Epub 2021 Sep 22. Presse Med. 2021. PMID: 34562560 Review.
The frequency of GL is currently assessed as approximately 0,23 cases per million of the population, in Europe - as 0,96 cases per million of the population. They can be congenital (CGL) or acquired (AGL) depending on the etiology and the time of the onset of fat loss. Bot …
The frequency of GL is currently assessed as approximately 0,23 cases per million of the population, in Europe - as 0,96 cases per million o …
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Sentner CP, et al. J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106217 Free PMC article.
Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. ...In total 58 AGL mutations (non-missense mutations
Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen
The regulation of glycogenolysis in the brain.
Nadeau OW, Fontes JD, Carlson GM. Nadeau OW, et al. J Biol Chem. 2018 May 11;293(19):7099-7107. doi: 10.1074/jbc.R117.803023. Epub 2018 Feb 26. J Biol Chem. 2018. PMID: 29483194 Free PMC article. Review.
The key regulatory enzymes of glycogenolysis are phosphorylase kinase, a hetero-oligomer with four different types of subunits, and glycogen phosphorylase, a homodimer. Both enzymes are activated by phosphorylation and small ligands, and both enzymes have distinct isoforms …
The key regulatory enzymes of glycogenolysis are phosphorylase kinase, a hetero-oligomer with four different types of subunits, and glyco
A Comparative Perspective on the Role of Acoustic Cues in Detecting Language Structure.
Mueller JL, Cate CT, Toro JM. Mueller JL, et al. Top Cogn Sci. 2020 Jul;12(3):859-874. doi: 10.1111/tops.12373. Epub 2018 Jul 22. Top Cogn Sci. 2020. PMID: 30033636 Free article. Review.
The present position paper brings together findings from human and non-human research on the impact of auditory cues on learning about linguistic structures with a special focus on how different types of cues and biases in auditory cognition may contribute to success and failure …
The present position paper brings together findings from human and non-human research on the impact of auditory cues on learning about lingu …
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
Perveen S, Gupta N, Kumar M, Kaur P, Chowdhury MR, Kabra M. Perveen S, et al. Am J Med Genet A. 2020 May;182(5):1190-1200. doi: 10.1002/ajmg.a.61547. Epub 2020 Mar 28. Am J Med Genet A. 2020. PMID: 32222031
Glycogen storage disease type III (GSD III) is a rare autosomal recessive inborn error of glycogen degradation pathway due to deficiency or reduced activity of glycogen debranching enzyme (GDE) that results in accumulation of abnormal glycoge
Glycogen storage disease type III (GSD III) is a rare autosomal recessive inborn error of glycogen degradation pathway due to
Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis.
Guin S, Ru Y, Agarwal N, Lew CR, Owens C, Comi GP, Theodorescu D. Guin S, et al. Clin Cancer Res. 2016 Mar 1;22(5):1274-83. doi: 10.1158/1078-0432.CCR-15-1706. Epub 2015 Oct 21. Clin Cancer Res. 2016. PMID: 26490312 Free PMC article.
Here we determine how AGL loss enhances tumor growth, hoping to find therapeutically tractable targets/pathways that could be used in patients with low AGL-expressing tumors. ...RESULTS: One such transcript was hyaluronic acid synthase 2 (HAS2), an enzyme res …
Here we determine how AGL loss enhances tumor growth, hoping to find therapeutically tractable targets/pathways that could be used in …
Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.
Zhai L, Feng L, Xia L, Yin H, Xiang S. Zhai L, et al. Nat Commun. 2016 Apr 18;7:11229. doi: 10.1038/ncomms11229. Nat Commun. 2016. PMID: 27088557 Free PMC article.
Its debranching is a critical step in its mobilization. In animals and fungi, the 170 kDa glycogen debranching enzyme (GDE) catalyses this reaction. ...These studies reveal that distinct domains in GDE catalyse sequential reactions in glycogen
Its debranching is a critical step in its mobilization. In animals and fungi, the 170 kDa glycogen debranching enzym
Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.
Ahmed S, Akbar F, Ali AJ, Afroze B. Ahmed S, et al. J Pediatr Endocrinol Metab. 2022 Jan 6;35(3):373-385. doi: 10.1515/jpem-2021-0575. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2022. PMID: 34989216
The median age of initial symptoms, clinic diagnosis and molecular diagnosis were 450 (IQR: 270-960), 1,095 (IQR: 510-1,825) and 1717 (IQR: 796-3,011) days, respectively. Molecular analysis and enzyme activity was available for 33 (60%) and two patients, respectively. ...I …
The median age of initial symptoms, clinic diagnosis and molecular diagnosis were 450 (IQR: 270-960), 1,095 (IQR: 510-1,825) and 1717 (IQR: …
41 results