Results 71 to 80 of about 1,002,705 (170)

The primary carbon metabolism in cyanobacteria and its regulation

Frontiers in Plant Science
Cyanobacteria are the only prokaryotes capable of performing oxygenic photosynthesis. Many cyanobacterial strains can live in different trophic modes, ranging from photoautotrophic and heterotrophic to mixotrophic growth.
Stefan Lucius, Martin Hagemann
doaj   +1 more source

Combined Transcriptome and Metabolome Analysis of Lupinus polyphyllus Response to PEG Stress

Agronomy
Drought stress is a common abiotic stress, and Lupinus polyphyllus presents strong adaptability, but its drought resistance mechanism has not been explored.
Shujie Chai, Wenke Dong, Huiling Ma
doaj   +1 more source

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7

Frontiers in Genetics
IntroductionAdult Polyglucosan Body Disease (APBD) is a rare, autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems. It is primarily caused by mutations in the Glycogen Branching Enzyme 1 (GBE1) gene.
Juan Zhu, Hong-Ping Yu, Jing Zou, Yi-Wu Zhang, Xin-Qi Han, Zi-Yan Xu, Li Chen, Qian Chen, Mei-Zhu Gao, Li-Jun Xie, Xi-Kui Zhang, Jie-Wei Luo, Yun-Fei Li, Yun-Fei Li, Li Zhang   +14 more
doaj   +1 more source

O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

Genetics in Medicine Open, 2023
Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani   +18 more
doaj   +1 more source

Glycogen storage disease due to glycogen branching enzyme deficiency [PDF]

, 2020
openaire   +1 more source

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

JCI Insight
Background Glycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally
Rebecca L. Koch, Bridget T. Kiely, Su Jin Choi, William R. Jeck, Leticia S. Flores, Vikrant Sood, Seema Alam, Gilda Porta, Katy LaVecchio, Claudia Soler-Alfonso, Priya S. Kishnani   +10 more
doaj   +1 more source

A United States-based patient-reported adult polyglucosan body disease registry: initial results

Therapeutic Advances in Rare Disease
Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene.
Jacy Sparks, Francesco Michelassi, John L. P. Thompson, Richard Buchsbaum, Natacha Pires, Janet T. DeRosa, Kristin Engelstad, Salvatore DiMauro, Hasan Orhan Akman, Michio Hirano   +9 more
doaj   +1 more source

Identification of Thermotoga maritima MSB8 GH57 α-amylase AmyC as a glycogen-branching enzyme with high hydrolytic activity. [PDF]

Appl Microbiol Biotechnol, 2019
Zhang X, Leemhuis H, Janeček Š, Martinovičová M, Pijning T, van der Maarel MJEC.   +5 more
europepmc   +1 more source

Multiple branching in glycogen and amylopectin

, 1974
The β-amylase limit dextrins of glycogen and amylopectin are completely debranched by joint action of isoamylase and pullulanase. Action of isoamylase alone results in incomplete debranching as a consequence of the inability of this enzyme to hydrolyze ...
Marshall, J.J, Whelan, W.J
core   +1 more source

WTAP/IGF2BP3-mediated GBE1 expression accelerates the proliferation and enhances stemness in pancreatic cancer cells via upregulating c-Myc

Cellular & Molecular Biology Letters
Background Pancreatic cancer (PC) is one of the most malignant cancers with highly aggressiveness and poor prognosis. N6-methyladenosine (m6A) have been indicated to be involved in PC development.
Weiwei Jin, Yanru Yao, Yuhan Fu, Xiangxiang Lei, Wen Fu, Qiliang Lu, Xiangmin Tong, Qiuran Xu, Wei Su, Xiaoge Hu   +9 more
doaj   +1 more source