Glycogen storage diseases

WB Hannah, TGJ Derks, ML Drumm… - Nature Reviews …, 2023 - nature.com
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis

R Van Wijk, WW Van Solinge - Blood, 2005 - ashpublications.org
The red blood cell depends solely on the anaerobic conversion of glucose by the Embden-
Meyerhof pathway for the generation and storage of high-energy phosphates, which is …

S-glycosylation-based cysteine profiling reveals regulation of glycolysis by itaconate

W Qin, KE Qin, Y Zhang, W Jia, Y Chen… - Nature chemical …, 2019 - nature.com
Itaconate has been recently recognized as an anti-inflammatory metabolite involved in the
pathogen–macrophage interface. Due to its weak electrophilicity, itaconate could modify …

Nitric Oxide and Protein S-Nitrosylation Are Integral to Hydrogen Peroxide-Induced Leaf Cell Death in Rice

A Lin, Y Wang, J Tang, P Xue, C Li, L Liu, B Hu… - Plant …, 2012 - academic.oup.com
Nitric oxide (NO) is a key redox-active, small molecule involved in various aspects of plant
growth and development. Here, we report the identification of an NO accumulation mutant …

Roles of aldolase family genes in human cancers and diseases

YC Chang, YC Yang, CP Tien, CJ Yang… - Trends in Endocrinology & …, 2018 - cell.com
The aldolase family members involved in metabolism and glycolysis are present in three
isoforms: ALDOA, ALDOB, and ALDOC. Aldolases are differentially expressed in human …

ALDOA functions as an oncogene in the highly metastatic pancreatic cancer

S Ji, B Zhang, J Liu, Y Qin, C Liang, S Shi, K **… - Cancer letters, 2016 - Elsevier
Pancreatic cancer is an aggressive and devastating disease that is characterized by
uncontrolled progression, invasiveness and resistance to conventional treatment. In the past …

Rhabdomyolysis: a genetic perspective

RS Scalco, AR Gardiner, RDS Pitceathly… - Orphanet journal of rare …, 2015 - Springer
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle
damage and release of intracellular muscle components into the blood stream leading to …

Fructose-bisphosphate aldolase a is a potential metastasis-associated marker of lung squamous cell carcinoma and promotes lung cell tumorigenesis and migration

S Du, Z Guan, L Hao, Y Song, L Wang, L Gong, L Liu… - PloS one, 2014 - journals.plos.org
Fructose-bisphosphate aldolase A (ALDOA) is a key enzyme in glycolysis and is responsible
for catalyzing the reversible conversion of fructose-1, 6-bisphosphate to glyceraldehydes-3 …

Dysregulation of calcium homeostasis in muscular dystrophies

A Vallejo-Illarramendi, I Toral-Ojeda… - Expert reviews in …, 2014 - cambridge.org
Muscular dystrophies are a group of diseases characterised by the primary wasting of
skeletal muscle, which compromises patient mobility and in the most severe cases originate …

A novel platelet-related gene signature for predicting the prognosis of triple-negative breast cancer

J **e, Y Zou, F Ye, W Zhao, X **e, X Ou… - Frontiers in cell and …, 2022 - frontiersin.org
Regarded as the most invasive subtype, triple-negative breast cancer (TNBC) lacks the
expression of estrogen receptors (ERs), progesterone receptors (PRs), and human …