Results 1 to 10 of about 28,187 (220)

Architecture and activation of human muscle phosphorylase kinase [PDF]

Nature Communications
The study of phosphorylase kinase (PhK)-regulated glycogen metabolism has contributed to the fundamental understanding of protein phosphorylation; however, the molecular mechanism of PhK remains poorly understood. Here we present the high-resolution cryo-
Xiaoke Yang, Mingqi Zhu, Xue Lu, Yuxin Wang, Junyu Xiao   +4 more
doaj   +2 more sources

Molecular basis for the regulation of human phosphorylase kinase by phosphorylation and Ca2+ [PDF]

Nature Communications
Phosphorylase kinase (PhK) regulates the degradation of glycogen by integrating diverse signals, providing energy to the organism. Dysfunctional mutations may directly lead to Glycogen Storage Disease type IX (GSD IX), whereas the abnormal expression of ...
Ruifang Ma, Bowen Du, Chen Shi, Lei Wang, Fuxing Zeng, Jie Han, Huiyi Guan, Yong Wang, Kaige Yan   +8 more
doaj   +2 more sources

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia [PDF]

npj Genomic Medicine
Muscle phosphorylase kinase deficiency results from X-linked pathogenic variants in PHKA1, leading to glycogen storage disease (GSD) type IXα1 (also known as GSD IXd). As part of an international collaboration, we describe 14 previously unreported cases (
Rebecca L. Koch, Angie H. Fares, Benjamin T. Cocanougher, Jamie Lim, Andrea B. Haijer-Schreuder, Terry G. J. Derks, Sarah C. Grünert, Reena Sharma, Karra A. Jones, Priya S. Kishnani   +9 more
doaj   +2 more sources

Reversal of Phosphorylase Kinase Activation

Journal of Biological Chemistry, 1968
Abstract When purified rabbit skeletal muscle phosphorylase kinase is activated by preliminary incubation with γ-32P-ATP in the presence of Mg++ ions, it incorporates covalently bound 32P. All of the 32P is bound as alkali-labile phosphate, presumably on seryl residues.
William D. Riley, R J DeLange, Gloria E. Bratvold, E G Krebs   +3 more
openalex   +3 more sources

When fatigue hides a metabolic myopathy: a case report of McArdle disease with molecular diagnosis [PDF]

European Journal of Case Reports in Internal Medicine
McArdle disease, or glycogen storage disease type V, is a rare inherited metabolic myopathy caused by mutations in the PYGM gene, resulting in deficiency of the enzyme myophosphorylase.
Beatriz Teixeira Lima, André S. Carvalho, Ana Catarina Camarneiro, Bárbara A.M. Baptista, Ricardo Rocha Gomes, Marta Isabel Brás, Susana Magalhães   +6 more
doaj   +2 more sources

Phosphorylase Kinase β Represents a Novel Prognostic Biomarker and Inhibits Malignant Phenotypes of Liver Cancer Cell. [PDF]

Int J Biol Sci, 2019
Yang W, Zhang C, Li Y, Jin A, Sun Y, Yang X, Wang B, Guo W.   +7 more
europepmc   +3 more sources

A novel sequence of the PHKG 2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature [PDF]

Journal of Medical Case Reports
Background Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase,
Seba Harh, Shaza Shahoud, Shady Daher, Diana Alasmar   +3 more
doaj   +2 more sources

A model for activation of the hexadecameric phosphorylase kinase complex deduced from zero-length oxidative crosslinking. [PDF]

Protein Sci, 2015
Thompson JA, Nadeau OW, Carlson GM.
europepmc   +3 more sources

Physicochemical changes in phosphorylase kinase induced by its cationic activator Mg(2+). [PDF]

Protein Sci, 2013
Liu W, Nadeau OW, Sage J, Carlson GM.
europepmc   +3 more sources

Author Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia [PDF]

npj Genomic Medicine
Rebecca L. Koch, Angie H. Fares, Benjamin T. Cocanougher, Jamie Lim, Andrea B. Haijer-Schreuder, Terry G. J. Derks, Sarah C. Grünert, Reena Sharma, Karra A. Jones, Priya S. Kishnani   +9 more
doaj   +2 more sources