Results 41 to 50 of about 31,724,613 (234)

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

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Molecular Genetics and Metabolism Reports, 2022
Introduction: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of
Areeg El-Gharbawy, Adviye A. Tolun, Carine A. Halaby, Stephanie L. Austin, Priya S. Kishnani, Deeksha S. Bali   +5 more
doaj   +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

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report

Journal of Medical Case Reports
Background Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects.
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian   +3 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

Sonographic findings in type I glycogen storage disease

, 2001
PURPOSE: The aim of this study was to document the sonographic appearance and dimensions of the liver and spleen in patients affected by type I glycogen storage disease and to correlate those findings with laboratory data to evaluate the potential role ...
L. Fiori, A. Botta, C. Melgara, C. Pozzato, M.L. Giannì, E. Riva   +5 more
core   +1 more source

Vascularized Liver‐on‐a‐Microsphere Reveals Alanine‐Glucose Metabolism‐Driven Regulation of Liver Function and Injury

Advanced Science, EarlyView.
A vascularized liver‐on‐a‐microsphere system is developed to recreate lobule‐like cellular organization and endothelial barrier function within compartmentalized hydrogel particles. The platform enhances hepatic performance and reveals alanine‐glucose cycle activation linked to improved detoxification capacity, offering a high‐throughput microscale ...
Jingyang Li, Zengnan Wu, Yingrui Zhang, Shulang Chen, Yongning Lin, Shiyu Chen, Tong Xu, Xianli Meng, Yi Zhang, Jin‐Ming Lin   +9 more
wiley   +1 more source

USP5 Stabilizes TGFBR1 to Drive Vascular Smooth Muscle Cell Senescence and Atherosclerosis

Advanced Science, EarlyView.
This study reveals that USP5 drives vascular smooth muscle cell senescence and atherosclerosis by stabilizing TGFBR1, suppressing IDH2, and promoting glycolytic reprogramming, identifying the USP5‐TGFBR1‐IDH2 axis as a potential therapeutic target. ABSTRACT Vascular smooth muscle cell (VSMC) senescence contributes importantly to atherosclerotic plaque ...
Xinhai Cui, Yuanlong Hu, Lin Lin, Lei Zhang, Chao Li, Yunlun Li   +5 more
wiley   +1 more source

Assessment of adeno-associated virus gene therapies efficacy on acid alpha-glucosidase restoration and glycogen storage correction in cardiac muscle of Pompe disease mice using synchrotron infrared and ultraviolet microspectroscopies

Journal of Spectral Imaging, 2019
Pompe disease (glycogen storage disease type II) is a lysosomal storage disorder due to a mutation in the gene that encodes acid alpha-glucosidase (GAA).
Laurence Dubreil, Lydie Lagalice, Johan Deniaud, Antoine Sabourin, Claire Lovo, Karim Bey, Juliette Hordeaux, Chantal Thorin, Christophe Sandt, Frédéric Jamme, Marie-Anne Colle   +10 more
doaj   +1 more source