Results 31 to 40 of about 1,568 (176)

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

Maternal heat abatement during gestation alters growth, immunity, thermotolerance, and hepatic gene expression in beef offspring during backgrounding [PDF]

Frontiers in Veterinary Science
IntroductionThe objective of this study was to evaluate the fetal programming effects of removing maternal heat abatement during late gestation on offspring growth, thermotolerance, physiological responses, and liver gene expression during the ...
Matheus L. Ferreira, Isabelle P. Siqueira, Marcelo Vedovatto, Wellison J. S. Diniz, Barbara R. dos Reis, Giancarlo P. Silva, Ashley K. Edwards, A. Lee Faulk, Aline C. dos Santos, Juliana Ranches   +9 more
doaj   +2 more sources

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease [PDF]

Neurology Genetics, 2017
Kazuyuki Mizushima, Jun Mitsui, Yoshio Ikeda, Yasuo Harigaya, Shinichi Morishita, Yukio Fujita, Shoji Tsuji, Takashi Matsukawa, Mikio Shoji, Hiroyuki Ishiura   +9 more
core   +3 more sources

P805: Rare clinical gene variant of GBE1: Glycogen storage disease IV

Genetics in Medicine Open
Megan Miller, Elana Perry, Anne Heuerman, Hyunyoung Ahn, Zeynep Alpay Savasan   +4 more
doaj   +2 more sources

Colocalization and functional analyses identify <i>GBE1</i> as a gene linking muscle strength and cardiometabolic fitness. [PDF]

Am J Physiol Endocrinol Metab
Colocalization of genome-wide association study (GWAS) loci with quantitative trait loci (QTL) in skeletal muscle tissue identified GBE1 as a candidate for handgrip strength. Cellular phenotypes with GBE1 knockdown in immortalized human skeletal muscle cells include decreased glycogen content, accumulation of polyglucosan bodies, changes in ...
Schnurr TM, Johnson ML, Jin C, Sørensen KV, Kim L, Jahng JW, Ramste A, Bielczyk-Maczynska E, Gloudemans MJ, Saliba-Gustafsson P, Vinton E, Jurney PL, Carcamo-Orive I, Ashley EA, Hansen T, Knowles JW, Palmisano BT.   +16 more
europepmc   +4 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

Transcriptional response to hypoxic stress in melanoma and prognostic potential of GBE1 and BNIP3 [PDF]

Oncotarget, 2017
Gradients of hypoxia occur in most solid tumors and cells found in hypoxic regions are associated with the most aggressive and therapy-resistant fractions of the tumor. Despite the ubiquity and importance of hypoxia responses, little is known about the variation in the global transcriptional response to hypoxia in melanoma. Using microarray technology,
Buart, Stéphanie, Terry, Stéphane, Noman, Muhammad Z., Lanoy, Emilie, Boutros, Céline, Fogel, Paul, Dessen, Philippe, Meurice, Guillaume, Gaston-Mathé, Yann, Vielh, Philippe, Roy, Séverine, Routier, Emilie, Marty, Virginie, Ferlicot, Sophie, Legrès, Luc, Bouchtaoui, Morad El., Kamsu-Kom, Nyam, Muret, Jane, Deutsch, Eric, Eggermont, Alexander, Soria, Jean-Charles, Robert, Caroline, Chouaib, Salem   +22 more
openaire   +2 more sources

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   +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

Deep IntronicGBE1Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease [PDF]

JAMA Neurology, 2015
We describe a deep intronic mutation in adult polyglucosan body disease. Similar mechanisms can also explain manifesting heterozygous cases in other inborn metabolic diseases.To explain the genetic change consistently associated with manifesting heterozygous patients with adult polyglucosan body disease.This retrospective study took place from November
H Orhan, Akman, Or, Kakhlon, Jorida, Coku, Lorenzo, Peverelli, Hanna, Rosenmann, Lea, Rozenstein-Tsalkovich, Julie, Turnbull, Vardiella, Meiner, Liat, Chama, Israela, Lerer, Shoshi, Shpitzen, Eran, Leitersdorf, Carmen, Paradas, Mary, Wallace, Raphael, Schiffmann, Salvatore, DiMauro, Alexander, Lossos, Berge A, Minassian   +17 more
openaire   +2 more sources