Results 11 to 20 of about 900,190 (260)

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases [PDF]

open access: bronzeEuropean Journal of Human Genetics, 2003
Barbara Burwinkel   +8 more
openalex   +2 more sources

Severe Phenotype of Phosphorylase Kinase-Deficient Liver Glycogenosis with Mutations in the PHKG2 Gene [PDF]

open access: bronzePediatric Research, 2003
Barbara Burwinkel   +4 more
openalex   +2 more sources

Enzymatic regulation of glycogenolysis in a subarctic population of the wood frog: implications for extreme freeze tolerance. [PDF]

open access: yesPLoS ONE, 2013
The wood frog, Rana sylvatica, from Interior Alaska survives freezing at -16°C, a temperature 10-13°C below that tolerated by its southern conspecifics. We investigated the hepatic freezing response in this northern phenotype to determine if its profound
M Clara F do Amaral   +2 more
doaj   +1 more source

Glycogenolysis Is Crucial for Astrocytic Glycogen Accumulation and Brain Damage after Reperfusion in Ischemic Stroke

open access: yesiScience, 2020
Summary: Astrocytic glycogen is an important energy reserve in the brain and is believed to supply fuel during energy crisis. However, the pattern of glycogen metabolism in ischemic stroke and its potential therapeutic impact on neurological outcomes are
Yanhui Cai   +13 more
doaj   +1 more source

Oximes: Novel Therapeutics with Anticancer and Anti-Inflammatory Potential

open access: yesBiomolecules, 2021
Oximes have been studied for decades because of their significant roles as acetylcholinesterase reactivators. Over the last twenty years, a large number of oximes have been reported with useful pharmaceutical properties, including compounds with ...
Igor A. Schepetkin   +4 more
doaj   +1 more source

The Effect of Mg2+ on the Ca2+-Binding Properties of Non-activated Phosphorylase Kinase [PDF]

open access: bronzeEuropean Journal of Biochemistry, 1977
Manfred W. Kilimann   +1 more
openalex   +2 more sources

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

open access: yesHuman Genome Variation, 2021
Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c ...
Jun Kido   +6 more
doaj   +1 more source

Generation of human induced pluripotent stem cell line, KRIBBi003-A, from urinary cells of a patient with glycogen storage disease type IXa

open access: yesStem Cell Research, 2021
Glycogen storage disease type IXa (GSD IXa) is a rare genetic disorder characterized by phosphorylase kinase (PhK) deficiency, which leads to excessive glycogen accumulation in the liver.
Yongbo Shin   +6 more
doaj   +1 more source

Changes in phosphorylation of chicken breast muscle in response to L-histidine introduction under low-NaCl conditions

open access: yesCyTA - Journal of Food, 2021
In an attempt to positively regulate meat quality at low NaCl concentration, the influence of L-histidine (L-his) introduction on the postmortem phosphorylation of chicken breast muscle protein that had been cured for 16 h at 1% NaCl was investigated at ...
Jiahui Li   +5 more
doaj   +1 more source

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