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Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
It is reported that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal episodes of apnea (CMS-EA), and findings point to a defect in ACh resynthesis or vesicular filling and to CHAT as one of the candidate genes.
The Plasma Membrane Calcium Pump Displays Memory of Past Calcium Spikes
The memory effect observed in PMCA2b and 4b will allow cells expressing either of them to remove Ca2+ more quickly in subsequent spikes after an initial activating spike, and is due to calmodulin remaining bound to the enzyme during the period at low Ca2+.
Distinct role of PLCβ3 in VEGF-mediated directional migration and vascular sprouting
It is shown here that VEGF, specifically through VEGFR2, induces phosphorylation of two serine residues on PLCβ3, and this was confirmed in an ex vivo embryoid body model.
Analysis of growth of multicellular tumour spheroids by mathematical models
The Gompertz, the autostim‐ulation and the simpleSpheroid models were the most appropriate for spheroid growth in the empirical, functional and structural classes of models, respectively.
The Metal-binding Properties of DREAM
DREAM binds calcium and magnesium and that calcium, but not magnesium, modulates DREAM structure and function, which changes the conformation, stability, and α-helical content of DREAM.
Functional consequences and structural interpretation of mutations of human choline acetyltransferase
The functional consequences of 12 missense and one nonsense mutations of CHAT are analyzed in 11 patients and the functional effects of 11 mutations are interpreted in the context of the atomic structural model of human ChAT.
The Rate of Activation by Calmodulin of Isoform 4 of the Plasma Membrane Ca2+ Pump Is Slow and Is Changed by Alternative Splicing*
The results indicate that the slow activation of isoform 4b is due to occlusion of the calmodulin-binding domain of 4b, caused by its strong interaction with the catalytic core.