Results 81 to 90 of about 1,568 (176)

Targeted brain metabolomics in a 7 month-old GBE1-deficient adult polyglucosan body disease mouse model

Targeted metabolomic profiles (protein-normalized relative abundances of brain metabolites) were obtained in an adult polyglucosan body disease mouse model and littermate controls.
Nitschke, F (via Mendeley Data)
core   +1 more source

Null mutations and lethal congenital form of glycogen storage disease type IV.

, 2007
Glycogen branching enzyme deficiency (glycogen storage disease type IV, GSD-IV) is a rare autosomal recessive disorder of the glycogen synthesis with high mortality.
Diogo, L, Henriques, M, Rebelo, O, Diggelen, O.P. van, Boode, W.P. de, Dilling, J, Carreira, I., Rebelo, O., Carreira, I, Bruno, C., Garcia, P, Assereto, S., Assereto, S, Morava, E., ter Laak, H, Cassandrini, D, Morava, E, Laak, H.J. ter, Minetti, C., Cassandrini, D., de Boode, WP, Garcia, P., Dilling, J., Henriques, M., Bruno, C, Diggelen, Otto, Diogo, L., Minetti, C   +27 more
core   +1 more source

Table1_Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.DOCX

, 2023
Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Wladimir Bocca Viera De Rezende Pinto (17662809), Matthew M. Gayed (17662803), Paulo Sgobbi (17662806), Rebecca L. Koch (13777501), Priya S. Kishnani (9214091)   +4 more
core   +1 more source

Myopathy in glycogen storage disease type IV: case report of a family

Бюллетень сибирской медицины
Aim. To study the clinical presentation and differential diagnosis of a rare hereditary disease glycogen storage disease type IV with progressive skeletal myopathy in a case report of a family.Materials and methods.
I. F. Fedoseeva, T. V. Poponnikova, O. S. Pinevich   +2 more
doaj   +1 more source

Physiological and molecular mechanisms of nitrogen in alleviating drought stress in Phoebe bournei

Scientific Reports
To explore the mechanisms by which nitrogen alleviates drought stress in Phoebe bournei, this study integrated drought treatment with exogenous nitrogen application to assess physiological characteristics and employed transcriptome sequencing to decipher
Jing An, Honghao Huo, Qiyuan Liu, Yunli Jiang, Hong Luo, Yupei Hao   +5 more
doaj   +1 more source

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease

, 2023
Adult polyglucosan body disease (APBD) is characterized by the development of progressive gait dysfunction, autonomic dysfunction, sensory loss, cognitive difficulties, and neurogenic bladder after 40 years of age (Akman 1).
Andrew Dugue; Scott Grossman; Nicolas Abreu; Cinthi Pillai
core  

Additional file 3 of Glycogen synthase 1 targeting reveals a metabolic vulnerability in triple-negative breast cancer

, 2023
Additional file 3: Figure S1. METABRIC mRNA expression data (27) and patient overall survival. (a) Overall survival of breast cancer patients with high or low mRNA expression of the respective glycogen enzymes in their primary tumor. Curves are separated
T. van der Sluis (16034539), S. de Jong (11482788), M. C. Zwager (16034536), T. Morita (8358702), H. Sheldon (16034530), E. C. de Heer (16034521), S. Haider (67380), B. van der Vegt (2866916), C. P. Schröder (16034545), C. E. Zois (16034524), W. A. Veldman (16034533), E. Bridges (16034527), O. Baba (16034542), A. L. Harris (7772477), M. Jalving (11482785)   +14 more
core   +1 more source

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

, 2017
Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues.
Yi, Haiqing, Brooks, Elizabeth D, Sun, Baodong, Kishnani, Priya S, Zhang, Quan, Yang, Chunyu, Thurberg, Beth L   +6 more
core   +1 more source

Guaiacol as a drug candidate for treating adult polyglucosan body disease

, 2018
Adult polyglucosan body disease (APBD) is a late-onset disease caused by intracellular accumulation of polyglucosan bodies, formed due to glycogen-branching enzyme (GBE) deficiency.
Senderowitz, H, Akman, HO, Khazanov, N, Lossos, A, Yue, WW, Pampou, S, Yetil, D, Kakhlon, O, Solmesky, LJ, Escriba, P, Ferreira, I, Alvarez, R, Yue, Wyatt, Weil, M   +13 more
core   +1 more source

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)

Data in Brief
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching.
Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari   +6 more
doaj   +1 more source