Results 61 to 70 of about 130,693 (343)

Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

Orphanet Journal of Rare Diseases
Background Hypoglycaemia is the primary manifestation of all the hepatic types of glycogen storage disease (GSD). In 2008, Glycosade®, an extended-release waxy maize cornstarch, was reported as an alternative to uncooked cornstarch (UCCS) which could ...
DA Weinstein, RJ Jackson, EA Brennan, M Williams, JE Davison, F de Boer, TGJ Derks, C Ellerton, B Faragher, J Gribben, P Labrune, KM McKittrick, E Murphy , KM Ross, U Steuerwald, C Voillot, AJM Woodward, HR Mundy   +17 more
doaj   +1 more source

Platelet glycogenolysis is important for energy production and function

Platelets, 2023
Although the presence of glycogen in platelets was established in the 1960s, its importance to specific functions (i.e., activation, secretion, aggregation, and clot contraction) remains unclear.
Kanakanagavalli Shravani Prakhya, Hemendra Vekaria, Daniёlle M. Coenen, Linda Omali, Joshua Lykins, Smita Joshi, Hammodah R. Alfar, Qing Jun Wang, Patrick Sullivan, Sidney W. Whiteheart   +9 more
doaj   +1 more source

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

, 2014
Purpose: Glycogen storage diseases are a group of inborn errors of glycogen synthesis or catabolism. The outcome for untreated patients can be devastating.
Wang, Jing;Cui, Hong;Lee, Ni-Chung;Hwu, Wuh-Liang;Chien, Yin-Hsiu;Craigen, William J.;Wong, Lee-Jun;Zhang, Victor Wei, 胡務亮 ;李妮鍾 ;簡穎秀   +1 more
core   +1 more source

Mesenchymal Stromal Cell‐Mediated Intercellular Communication: Mapping the Interactome for Skeletal Muscle Homeostasis and Regeneration

Advanced Science, EarlyView.
Liu et al. define a systems‐level interactome of fibroadipogenic progenitor (FAP)‐mediated signaling in skeletal muscle by integrating single‐cell transcriptomics with FAP depletion‐based perturbation analysis. Functional interrogation using a conditioned media bioassay links predicted signaling to multicellular outcomes, establishing a framework to ...
Xingyu Liu, Edgar E. Perez Carbajal, Yih‐Chii Hwang, Sahil A. Mapkar, Benjamin W. Gilman, Sarah A. Bliss, Lam B. Tran, Kalgi T. Mehta, Jacob O. Banyasz, Ming Yu, Reynold R. Liu, Matthew N. Ly, Christapher S. Morrissey, Michael N. Wosczyna   +13 more
wiley   +1 more source

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis

Annals of Hepatology, 2018
Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change.
Zhi-yuan Chen, Yu-pin Liu, Guang-juan Zheng   +2 more
doaj   +1 more source

Glycogen storage disease type Ib: role of glucose‐6‐phosphate transporter in cell metabolism and function

FEBS Letters, 2019
Cellular metabolism generally refers to biochemical processes that produce or consume energy within the cell. Recent studies have established that aberrant metabolic states caused by internal or external stresses and genetic mutations are intertwined ...
S. Sim, D. Weinstein, Young Mok Lee, H. Jun   +3 more
semanticscholar   +1 more source

Perinatal Gene Transfer to the Liver

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR   +13 more
core   +1 more source

Genome‐Wide CRISPR Screen Identifies a microRNA Orchestrating Pleiotropic Resistance to Targeted Therapy and T Cell Immunity in Melanoma

Advanced Science, EarlyView.
A genome‐wide microRNA CRISPR screen identifies miR‐18a as a master regulator of cross‐resistance in melanoma. Loss of miR‐18a activates the AJUBA–YAP/Hippo axis to confer BRAFi resistance and enhances THBS1–CD47 interaction to impair CD8+ T cell immunity. hnRNP A1 is identified as an upstream regulator of miR‐18a processing.
Zhao Wang, Haotian Liu, Xueqi Wang, Jianjin Teng, Zihan Zheng, Jingya Zhang, Wanyi Xiao, Qian Liang, Jiaxin Li, Xiaomeng Jia, Xin Feng, Hongzhang Cui, Menghan Luo, Tielong Yang, Liuxing Wu, Ke Zhao, Weilong Yang, Mulin Jun Li, Dandan Huang, Jilong Yang   +19 more
wiley   +1 more source

Multimodal Imaging Reveals Rapid Catecholamine Uptake and Release by Neutrophils

Advanced Science, EarlyView.
We show that immune cells (neutrophils) synthesize, uptake, and store catecholamine neurotransmitters such as dopamine or adrenaline. They also release them in response to specific stimuli (serotonin), which we directly visualize using fluorescent nanosensors. We further demonstrate that catecholamines affect neutrophil functions (NETosis) and platelet
Jennifer Mohr, Anne Schmitz, Meshkat Dinarvand, Franziska Wulfert, Sangeetha Shankar, Bjoern F. Hill, Michael Wojak, Juliana Gretz, Marie Britz, Elsa Neubert, Magdalena Shumanska, Sofia Kaushik, Linda Kartaschew, Ivan Bogeski, James Daniel, Sebastian Jung, Johannes Eble, Guido Wabnitz, Luise Erpenbeck, Sebastian Kruss   +19 more
wiley   +1 more source

Hyperlipidemia Aggravates Alveolar Bone Loss via Periodontal Ligament Stem Cell Ferroptosis Through GSK3β Dependent Ubiquitin‐Mediated NRF2 Degradation

Advanced Science, EarlyView.
Lipid metabolic stress triggers ferroptosis in PDLSCs through the GSK3β/NRF2 pathway, thereby aggravating periodontal bone loss. Upregulated GSK3β promotes NRF2 ubiquitination and proteasomal degradation via β‐TrCP, suppressing NRF2 nuclear translocation and antioxidant target expression.
Yuxiao Zhang, Xiangyao Wang, Yaxin Wu, Liping Liu, Gaoshaer Nuerlan, Ahsawle Ozathaley, Xiaorui Zhang, Jinping Wang, Bowen Yang, Jing Mao, Yan Liu, Shiqiang Gong   +11 more
wiley   +1 more source