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Page 1
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.
They can be congenital (CGL) or acquired (AGL) depending on the etiology and the time of the onset of fat loss. Both CGL and AGL are often associated with different metabolic complications, such as hypertriglyceridemia, insulin resistance and lipoatrophic diabetes m …
They can be congenital (CGL) or acquired (AGL) depending on the etiology and the time of the onset of fat loss. Both CGL and AGL …
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.
Additionally, the activity, structure, and regulation of the remaining enzyme necessary for glycogenolysis, glycogen-debranching enzyme, are also reviewed....
Additionally, the activity, structure, and regulation of the remaining enzyme necessary for glycogenolysis, glycogen-debranching …
Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.
Jauze L, Vie M, Miagoux Q, Rossiaud L, Vidal P, Montalvo-Romeral V, Saliba H, Jarrige M, Polveche H, Nozi J, Le Brun PR, Bocchialini L, Francois A, Cosette J, Rouillon J, Collaud F, Bordier F, Bertil-Froidevaux E, Georger C, van Wittenberghe L, Miranda A, Daniele NF, Gross DA, Hoch L, Nissan X, Ronzitti G. Jauze L, et al. JCI Insight. 2024 May 16;9(11):e172614. doi: 10.1172/jci.insight.172614. JCI Insight. 2024. PMID: 38753465 Free PMC article.
Glycogen storage disease type III (GSDIII) is a rare metabolic disorder due to glycogen debranching enzyme (GDE) deficiency. Reduced GDE activity leads to pathological glycogen accumulation responsible for impaired hepatic metabolism and muscle weakness. ...
Glycogen storage disease type III (GSDIII) is a rare metabolic disorder due to glycogen debranching enzyme (GDE) defici …
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 …
Structured Sequence Learning: Animal Abilities, Cognitive Operations, and Language Evolution.
Petkov CI, Ten Cate C. Petkov CI, et al. Top Cogn Sci. 2020 Jul;12(3):828-842. doi: 10.1111/tops.12444. Epub 2019 Jul 29. Top Cogn Sci. 2020. PMID: 31359600 Free PMC article. Review.
Human language is a salient example of a neurocognitive system that is specialized to process complex dependencies between sensory events distributed in time, yet how this system evolved and specialized remains unclear. Artificial Grammar Learning (AGL) studies have genera …
Human language is a salient example of a neurocognitive system that is specialized to process complex dependencies between sensory events di …
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
Cheema HA, Fayyaz Z, Saeed A, Anjum MN, Ijaz S, Alvi MA, Batool SS. Cheema HA, et al. Turk J Gastroenterol. 2023 Oct;34(10):1088-1098. doi: 10.5152/tjg.2023.22791. Turk J Gastroenterol. 2023. PMID: 37603299 Free PMC article.
MATERIALS AND METHODS: The deoxyribonucleic acid of affected probands of 44 unrelated Pakistani families, having hereditary chronic pancreatitis-affected children, were subjected to massive parallel sequencing for candidate reported genes (SPINK1, PRSS1, CFTR, CPA1, CTRC, CBS, …
MATERIALS AND METHODS: The deoxyribonucleic acid of affected probands of 44 unrelated Pakistani families, having hereditary chronic pancreat …
Novel drug targets and molecular mechanisms for sarcopenia based on systems biology.
Ceyhan AB, Ozcan M, Kim W, Li X, Altay O, Zhang C, Mardinoglu A. Ceyhan AB, et al. Biomed Pharmacother. 2024 Jul;176:116920. doi: 10.1016/j.biopha.2024.116920. Epub 2024 Jun 13. Biomed Pharmacother. 2024. PMID: 38876054 Free article.
Differential expression, gene set enrichment, gene co-expression network, and topology analyses were conducted to identify target genes implicated in sarcopenia pathogenesis, resulting in the selection of 6 hub genes (PDHX, AGL, SEMA6C, CASQ1, MYORG, and CCDC69). A drug re …
Differential expression, gene set enrichment, gene co-expression network, and topology analyses were conducted to identify target genes impl …
Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.
Nazari F, Sinaei F, Nilipour Y, Petit F, Oveisgharan S, Nassiri-Toosi M, Razzaghy-Azar M, Mahmoudi M, Nafissi S. Nazari F, et al. J Clin Neuromuscul Dis. 2018 Jun;19(4):203-210. doi: 10.1097/CND.0000000000000212. J Clin Neuromuscul Dis. 2018. PMID: 29794575
OBJECTIVES: Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, an …
OBJECTIVES: Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder caused by glycogen debranching …
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.
Gardin A, Rouillon J, Montalvo-Romeral V, Rossiaud L, Vidal P, Launay R, Vie M, Krimi Benchekroun Y, Cosette J, Bertin B, La Bella T, Dubreuil G, Nozi J, Jauze L, Fragnoud R, Daniele N, Van Wittenberghe L, Esque J, André I, Nissan X, Hoch L, Ronzitti G. Gardin A, et al. J Clin Invest. 2024 Jan 16;134(2):e172018. doi: 10.1172/JCI172018. J Clin Invest. 2024. PMID: 38015640 Free PMC article.
Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations of the AGL gene encoding for the glycogen debranching enzyme (GDE). No curative treatment exists for GSDIII. .. …
Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations …
45 results