Results 21 to 30 of about 28,187 (220)

Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene

Case Reports in Pediatrics, 2020
We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen ...
Hamza Hassan Khan, Lauren Parr, Allison Jay, Saleem Raza, Hernando Lyons, Sanjay Kumar   +5 more
doaj   +1 more source

Bridge Formation in Phosphorylase Kinase♦ [PDF]

Journal of Biological Chemistry, 2012

openalex   +3 more sources

X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males

Pediatrics and Neonatology, 2009
X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase
Szu-Ta Chen, Huey-Ling Chen, Yen-Hsuan Ni, Yin-Hsiu Chien, Yung-Ming Jeng, Mei-Hwei Chang, Wuh-Liang Hwu   +6 more
doaj   +1 more source

Preliminary Study: Proteomic Profiling Uncovers Potential Proteins for Biomonitoring Equine Melanocytic Neoplasm

Animals, 2021
Equine melanocytic neoplasm (EMN) is a cutaneous neoplasm and is mostly observed in aged grey horses. This preliminary study aimed to identify potential proteins to differentiate normal, mild and severe EMN from serum proteomic profiling.
Parichart Tesena, Amornthep Kingkaw, Wanwipa Vongsangnak, Surakiet Pitikarn, Narumon Phaonakrop, Sittiruk Roytrakul, Attawit Kovitvadhi   +6 more
doaj   +1 more source

Regulation of purified rat liver acetyl CoA carboxylase by phosphorylation

Journal of Lipid Research, 1983
Acetyl CoA carboxylase was purified from liver of fasted-refed rats to near homogeneity, based on electrophoretic analysis and biotin content. These preparations contained an endogenous protein kinase that catalyzed the transfer of radioactive phosphate ...
J B Allred, G J Harris, J Goodson
doaj   +1 more source

Protein Kinase Inhibitor Peptide as a Tool to Specifically Inhibit Protein Kinase A

Frontiers in Physiology, 2020
The protein kinase enzyme family plays a pivotal role in almost every aspect of cellular function, including cellular metabolism, division, proliferation, transcription, movement, and survival.
Chong Liu, Ping Ke, Jingjing Zhang, Xiaoying Zhang, Xiongwen Chen   +4 more
doaj   +1 more source

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

BMC Pediatrics, 2022
Background Pathogenic mutations in the PHKG2 are associated with a very rare disease—glycogen storage disease IXc (GSD-IXc)—and are characterized by severe liver disease.
Yongxian Shao, Taolin Li, Minyan Jiang, Jianan Xu, Yonglan Huang, Xiuzhen Li, Ruidan Zheng, Li Liu   +7 more
doaj   +1 more source

Molecular basis of impaired glycogen metabolism during ischemic stroke and hypoxia. [PDF]

PLoS ONE, 2014
BACKGROUND: Ischemic stroke is the combinatorial effect of many pathological processes including the loss of energy supplies, excessive intracellular calcium accumulation, oxidative stress, and inflammatory responses.
Mohammed Iqbal Hossain, Carli Lorraine Roulston, David Ian Stapleton   +2 more
doaj   +1 more source

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2

Molecular Genetics and Metabolism Reports, 2021
The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis.
J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee   +5 more
doaj   +1 more source

Clostridioides difficile Phosphoproteomics Shows an Expansion of Phosphorylated Proteins in Stationary Growth Phase

mSphere, 2022
Phosphorylation is a posttranslational modification that can affect both housekeeping functions and virulence characteristics in bacterial pathogens. In the Gram-positive enteropathogen Clostridioides difficile, the extent and nature of phosphorylation ...
Wiep Klaas Smits, Yassene Mohammed, Arnoud H. de Ru, Valentina Cordo', Annemieke H. Friggen, Peter A. van Veelen, Paul J. Hensbergen   +6 more
doaj   +1 more source