Results 21 to 30 of about 1,590 (147)

Supplementary Feeding Regulates Muscle Development of Oula Sheep (Tibetan Sheep, Ovis aries) Through Glucose Metabolism Pathway [PDF]

Animals
To investigate the genetic regulatory mechanism of supplementary feeding on muscle development in Oula sheep, we employed transcriptomic analysis to explore the differentially expressed genes (DEGs) in the longissimus dorsi muscle of Oula sheep at ...
Yumeng Li, Yanhao Wang, Mingyi Yan, Sen Wu, Meng Liu, Sayed Haidar Abbas Raza   +5 more
doaj   +2 more sources

Revealing the novel metabolism‐related genes in the ossification of the ligamentum flavum based on whole transcriptomic data [PDF]

JOR Spine
Backgrounds The ossification of the ligamentum flavum (OLF) is one of the major causes of thoracic myelopathy. Previous studies indicated there might be a potential link between metabolic disorder and pathogenesis of OLF.
Yongzhao Zhao, Qian Xiang, Shuai Jiang, Jialiang Lin, Weishi Li   +4 more
doaj   +2 more sources

Genetic diagnosis of Jordanian patients with glycogen storage diseases [PDF]

Orphanet Journal of Rare Diseases
Background Glycogen storage diseases (GSDs) are a group of hereditary metabolic disorders caused by defects in biosynthesis, and storage of glycogen that affect various organs, such as liver, muscles, and heart.
Mohammad Shboul, Mohammed El-Khateeb, Rajaa Fathallah   +2 more
doaj   +2 more sources

Search for Ancient Selection Traces in Faverolle Chicken Breed (Gallus gallus domesticus) Based on Runs of Homozygosity Analysis [PDF]

Animals
Runs of homozygosity (ROHs) are continuous homozygous segments of genomes that can be used to infer the historical development of the population. ROH studies allow us to analyze the genetic structure of a population and identify signs of selection.
Anna E. Ryabova, Anastasiia I. Azovtseva, Yuri S. Shcherbakov, Artem P. Dysin, Natalia V. Dementieva   +4 more
doaj   +2 more sources

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Cell Reports, 2019
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood.
Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke   +12 more
doaj   +2 more sources

SIRT7 drives energy metabolic shifts in endometriosis via interaction with TUFM and Rhoa/Rock/Akt pathway activation [PDF]

Cellular and Molecular Life Sciences
Purpose Endometriosis is characterized by the ectopic growth of endometrial-like tissue outside the uterus and altered energy metabolism, but the specific mechanisms involved remain unclear. This study aimed to investigate the impact of Sirtuins7 (SIRT7)
Huaying Zhang, Jiahao Chen, Mengjie Yang, Xinyu Ding, Guolin Chai, Ruofan Huang, Dianchao Lin, Zhixiong Huang, Qionghua Chen   +8 more
doaj   +2 more sources

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene

Frontiers in Genetics, 2022
Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems.
Yiyang Li, Yiyang Li, Yiyang Li, Chuan Tian, Si Huang, Weijie Zhang, Weijie Zhang, Qiuyu Liutang, Qiuyu Liutang, Yajun Wang, Yajun Wang, Guoda Ma, Guoda Ma, Riling Chen, Riling Chen   +14 more
doaj   +1 more source

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV

Children, 2023
Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated ...
Handan Bezirganoglu, Kubra Adanur Saglam
doaj   +1 more source

A family study implicates GBE1 in the etiology of autism spectrum disorder

, 2022
Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect.
Green, CC, Young, S, Finlay, K, Fanjul-Fernández, M, Bahlo, M, Lockhart, PJ, Diakumis, P, Vick, T, Scheffer, IE, Eichler, EE, Delatycki, MB, Rattray, A, Coe, BP, Alhuzaimi, D, Brown, NJ, Lukic, V, Rafehi, H, Bozaoglu, K, Mountford, HS, Wilson, SJ, Hickey, P, Gillies, G   +21 more
core   +1 more source

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism [PDF]

, 2022
Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase (GAA), resulting in lysosomal glycogen accumulation.
Marianne Hoogeveen‐Westerveld, van der Beek, Nadine A.M.E., Gerben J. Schaaf, Hoogeveen-Westerveld, M., Harlaar, L., Carlos A. dos Santos, Tim Snijders, Canibano-Fraile, R., Verdijk, Robert M., Rodrigo Canibano‐Fraile, Esther Brusse, Harlaar, Laurike, Harlaar, Laurike; id_orcid, Santos, C.A. dos, van der Ploeg, Ans T, Beek, N.A.M.E. van der, Laurike Harlaar, Pijnappel, W W M Pim, Snijders, T., Philip Lijnzaad, Snijders, Tim, Canibano-Fraile, Rodrigo, Schaaf, G.J., van Doorn, Pieter A.; id_orcid, Ploeg, A.T. van der, Brusse, E., Dos Santos, Carlos A, van der Ploeg, Ans T., van der Beek, Nadine A M E, Doorn, P.A. van, Brusse, Esther; id_orcid, Pijnappel, W.W.M.P., W. W. M. Pim Pijnappel, Demmers, Jeroen A.A., Pijnappel, W. W.M.Pim, dos Santos, Carlos A., Demmers, Jeroen A A, Schaaf, Gerben J, Nadine A. M. E. van der Beek, Schaaf, Gerben J., Robert M. Verdijk, van Doorn, Pieter A., Snijders, Tim; id_orcid, Verdijk, R.M., Verdijk, Robert M, Brusse, Esther, Ans T. van der Ploeg, Jeroen A. A. Demmers, Lijnzaad, Philip, Hoogeveen-Westerveld, Marianne, Pieter A. van Doorn, van Doorn, Pieter A, Demmers, J.A.A., Lijnzaad, P.   +53 more
core   +2 more sources