Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old female complained of exertional dyspnea and sleep disturbance. Her face was elongated longitudinally and the hard palate was narrow and high-arched. She has slender musculature and kyphoscoliosis. She was dysphonic and could not walk on her heels. Muscles in the face, upper arm, pelvic girdle and thigh were atrophic. Muscle weakness was detected in the neck, tibialis anterior, ilipsoas and other hip muscles, and ranged between 3- and 4 by the manual muscle testing. Electromyography showed definite myogenic abnormalities in all the muscle examined. No abnormality was found on the routine examination of blood, as was the motor and sensory nerve conduction velocity. Her vital capacity was 0.91 L, i.e., 35% of the expected value, suggesting a severe restrictive respiration. The arterial blood gas analysis revealed hypoxia, hypercapnia and desaturation. The blood gas data worsened when she was asleep, because of increased hypoventilation. Muscle biopsy of the biceps brachii showed a marked variation in the muscle fiber size. The type 1 muscle fiber was predominant. Many fibers contained nemaline rods and/or core-like structures. Some fibers contained both nemaline and core-like structures. This core-like structures were not stained with NADH-TR and ATPase reactions, and about 40-100 microns in the longitudinal extension. In this context, typical central cores have not been observed in the present case. No association of nemaline rods and core-like structures in the same muscle fiber has been reported, although a close relationship of the two structures has been suggested.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An adult case of congenital myopathy--coexistence of nemaline rods and core-like structures]. 815 9

In computational biology processes such as docking, binding, and folding are often described by simplified, empirical models. These models are fitted to physical properties of the process by adjustable parameters. An appropriate choice of these parameters is crucial for the quality of the models. Locating the best choices for the parameters is often is a difficult task, depending on the complexity of the model. We describe a new method and program, POEM (Parameter Optimization using Ensemble Methods), for this task. In POEM we combine the DOE (Design Of Experiment) procedure with ensembles of different regression methods. We apply the method to the optimization of target specific scoring functions in molecular docking. The method consists of an iterative procedure that uses alternate evaluation and prediction steps. During each cycle of optimization we fit an approximate function to a defined loss function landscape and improve the quality of this fit from cycle to cycle by constantly augmenting our data set. As test applications we fitted the FlexX and Screenscore scoring functions to the kinase and ATPase protein classes. The results are promising: Starting from random parameters we are able to locate parameter sets which show superior performance compared to the original values. The POEM approach converges quickly and the approximated loss function landscapes are smooth, thus making the approach a suitable method for optimizations on rugged landscapes.
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PMID:POEM: Parameter Optimization using Ensemble Methods: application to target specific scoring functions. 1618 Sep 6