The molecular dynamics (MD) simulation method is used to assess structural details for humanprion protein (hereafter PrPN) and its Asp178 Asn mutant (hereafter PrPm) which causes fatalfamilial insomnia disease. The results reveal that the flexibility and instability increase in PrPmcould be related to specific amino acids exposed to the solvent. Solvation free energy of PrPm is 20kjmot1nni2 mor...

The aim of this study was to measure the role of the duodenal loop in biliopancreatic secretion in man by infusing various stimuli at the ampulla of Vater and collecting duodenal contents at the ligament of Treitz, above an occluding balloon. Perfusion at 10 ml/min of a first mixture of aminoacids - phenylalanine (47.2 mmol), methionine (38.2 mmol), tryptophan (11 mmol), valine (61.6 mmol) - in...

Acid lipase belongs to a family of enzymes that is mainly present in lysosomes of different organs and the stomach. It is characterized by its capacity to withstand acidic conditions while maintaining high lipolytic activity. We cloned for the first time the full coding sequence of camel's lysosomal acid lipase, cLIPA using RT-PCR technique (Genbank accession numbers JF803951 and AEG75815, for ...

We studied natural history and morphological features in 10 adult onset Acid Maltase Deficient (AMD) patients who were ambulant (age range 23-69 yrs), and 1 juvenile-onset AMD patient, who was wheelchair-bound and respirator-dependent (disease duration 36 yrs). Morphological features in muscle biopsy showed a vacuolar myopathy, there was Golgi apparatus proliferation within fibers, the autophag...

Glutaric acidemia type 1 (GA1) is an inborn error of metabolism caused by the deficiency enzyme glutaryl-CoA dehydrogenase, with consequent accumulation aminoacids lysine, hydroxylsine and tryptophan. About in every 100,000 individuals are affected disease. Neurological manifestations variable include acute chronic encephalopathic crises, dystonia, motor cognitive deficits, as well neuroimaging...