Results 51 to 60 of about 130,693 (343)

BRAIN GLYCOGEN – BEYOND ENERGY STORAGE IN GLYCOGEN STORAGE DISEASES

, 2023
Glycogen is a carbohydrate molecule that is traditionally viewed as a convenient and easily accessible energy storage form of glucose. However,emerging evidence supports the role of glycogen as more than a glucose storage form.
Markussen, Kia H.
core   +1 more source

Neurological Characteristics of Pediatric Glycogen Storage Disease

Frontiers in Endocrinology, 2021
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage.
Julio Henrique Muzetti, Julio Henrique Muzetti, Julio Henrique Muzetti, Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Mara L. S. Ferreira Santos, Bruno Augusto Telles, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro   +10 more
doaj   +1 more source

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

Journal of Inherited Metabolic Disease, 2020
The metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (eg, hypertriglyceridemia, hyperlactatemia, hyperuricemia).
T. Mathis, M. Poms, H. Köfeler, M. Gautschi, B. Plecko, M. Baumgartner, M. Hochuli   +6 more
semanticscholar   +1 more source

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

, 2014
Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme.
Li, Sing-Chung;Hwu, Wuh-Liang;Lin, Ju-Li;Bali, Deeksha S.;Yang, Chen;Chu, Shih-Ming;Chien, Yin-Hsiu;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien;Chen, Yuan-Tsong;Lee, Ni-Chung, 胡務亮 ;謝武勳 ;李妮鍾 ;簡穎秀   +1 more
core   +1 more source

Evidence of Cardiomyocyte Necrosis in Glycogen Storage Disease type-II

, 2007
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac
Lawson, G. J., Collinson, P.O., Gaze, D.C., Harris, A.   +3 more
core   +1 more source

Glycogen Storage Disease Type Ib: The First Case in Taiwan

, 2011
Glycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6- phosphatase, was the ...
HSIAO, HUI-JU;CHANG, HSIU-HAO;HWU, WUH-LIANG;LAM, CHING-WAN;LEE, NI-CHUNG;CHIEN, YIN-HSIU, 蕭惠如;張修豪;胡務亮;林青雲;李妮鍾;簡穎秀   +1 more
core   +1 more source

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Molecular Genetics and Metabolism Reports, 2020
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene.
Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel   +10 more
doaj   +1 more source

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance

Journal of Inherited Metabolic Disease, 2019
The international liver glycogen storage disease (GSD) priority setting partnership (IGSDPSP) was established to identify the top research priorities in this area.
Fabian Peeks, Willemijn F Boonstra, Lut de Baere, Camilla Carøe, T. Casswall, Damián Cohen, K. Cowan, I. Ferrecchia, Alberto Ferriani, C. Gimbert, M. Landgren, Nerea López Maldonado, J. McMillan, A. Németh, N. Seidita, U. Stachelhaus-Theimer, D. Weinstein, T. Derks   +17 more
semanticscholar   +1 more source

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   +1 more source

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source