Neurological

The thesis is structured as follows: In Chapter 1, the scientific literature is summarized within the scope of this study. Chapter 2 provides a comprehensive overview of the principles of the applied computational approaches in this study. Chapter 3 identifies the important residues of the LsIA/α7 nAChR complex that affect the interactions between the toxin and the membrane protein due to C-terminal carboxylation of LsIA. The effects of C-terminal modification of LsIA on interactions with α3β2 nAChR, involved in cardiovascular diseases, were also investigated in Chapter 4.

234p runthenight04 02-02-2023 11 3   Download

Mucopolysaccharidosis type I (MPS I) results from a deficiency in the enzyme a-L-iduronidase (IDUA), and is characterized by skeletal abnormalities, hepatosplenomegaly and neurological dysfunction. In this study, we used a late generation lentiviral vector to evaluate the utility of this vector system for the transfer and expression of the human IDUA cDNA in MPS I fibroblasts. We observed that the level of enzyme expression in transduced cells was 1.5-fold the level found in normal cells; the expression persisted for at least two months....

8p system191 01-06-2013 31 5   Download

Neurodegenerative disorders, such as Huntington’s, Alzheimer’s, and Parkinson’s diseases, affect millions of people worldwide and currently there are few effective treatments and no cures for these diseases. Transgenic mice expressing human transgenes for huntingtin, amyloid precursor protein, and other genes associated with familial forms of neurodegenerative disease in humans provide remarkable tools for studying neurodegeneration because they mimic many of the pathological and behavioural features of the human conditions. ...

15p awards 06-04-2013 39 4   Download

The GM2-activator protein (GM2AP) is an essential cofactor for the degradation of ganglioside GM2 by lyso-somal b-hexosaminidase A. It mediates the interaction between the water-soluble exohydrolase and its membrane-bound substrate at the lipid–water interphase. Inherited defects in the gene encoding this glycoprotein result ina fatal neurological storage disorder, the AB variant of GM2-gangliosidosis. To elucidate the mode of action of this gly-coprotein cofactor, we synthesized the two photoaffinity labels [ 14 C]C3 -TPD-GM2 and [ 14 C]C7 -TPD-GM2. ...

14p dell39 03-04-2013 61 4   Download

The metabolic disease 3-methylglutaconic aciduria type I (MGA1) is char-acterized by an abnormal organic acid profile in which there is excessive urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid. Affected individuals display variable clinical manifestations ranging from mildly delayed speech development to severe psychomotor retardation with neurological handicap.

11p inspiron33 26-03-2013 45 5   Download

The GM2-activator protein (GM2AP) is an essential cofactor for the lyso-somal degradation of ganglioside GM2 by b-hexosaminidase A (HexA). It mediates the interaction between the water-soluble exohydrolase and its membrane-embedded glycolipid substrate at the lipid–water interface. Functional deficiencies in this protein result in a fatal neurological storage disorder, the AB variant of GM2 gangliosidosis.

10p inspiron33 26-03-2013 51 4   Download

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase. Accumulation of glucosylceramide, primarily in the lysosomes of cells of the reticuloendo-thelial system, leads to hepatosplenomegaly, anemia and skeletal lesions in type I disease, and neurologic manifestations in types II and III disease.

11p inspiron33 25-03-2013 52 4   Download

Palytoxin is a marine toxin responsible for a fatal type of poisoning in humans named clupeotoxism, with symptoms such as neurologic distur-bances. It is believed that it binds to the Na + ⁄K + -ATPase from the extra-cellular side and modifies cytosolic ions; nevertheless, its effects on internal cell structures, such as the cytoskeleton, which might be affected by these initial events, have not been fully elucidated.

14p galaxyss3 19-03-2013 48 4   Download

Human glutamate carboxypeptidase II [GCPII (EC 3.4.17.21)] is recog-nized as a promising pharmacological target for the treatment and imaging of various pathologies, including neurological disorders and prostate can-cer. Recently reported crystal structures of GCPII provide structural insight into the organization of the substrate binding cavity and highlight residues implicated in substrate⁄inhibitor binding in the S1¢ site of the enzyme.

11p media19 04-03-2013 42 4   Download

Alzheimer’s disease (AD) is a neurological disorder characterized by the presence of amyloidb(Ab) peptide fibrils and oligomers in the brain. It has been suggested that soluble Ab oligomers, rather than Ab fibrils, contribute to neurodegeneration and dementia due to their higher level of toxicity.

12p vinaphone15 28-02-2013 34 2   Download

Cockayne syndrome (CS) is a complex, progressive disease that involves neurological and developmental impairment and premature aging. The majority of CS patients have mutations in theCSBgene. The CSB protein is involved in multiple DNA repair pathways and CSBmutated cells are sensitive to a broad spectrum of genotoxic agents.

11p viettel02 22-02-2013 32 4   Download

Fatty aldehyde dehydrogenase (FALDH; also known as ALDH3A2 or ALDH10) oxidizes medium- or long-chain aliphatic aldehydes. FALDH deficiency in humans is known to be the cause of Sjo¨gren–Larsson syn-drome, in which individuals display neurological symptoms and cutaneous abnormality.

15p viettel02 20-02-2013 33 3   Download

Cerebral cavernous malformations are common vascular lesions of the cen-tral nervous system that predispose to seizures, focal neurologic deficits and potentially fatal hemorrhagic stroke. Human genetic studies have iden-tified three genes associated with the disease and biochemical studies of these proteins have identified interaction partners and possible signaling pathways.

8p mobifone23 18-01-2013 30 4   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành hóa học dành cho các bạn yêu hóa học tham khảo đề tài: Combination of cyclosporine and erythropoietin improves brain infarct size and neurological function in rats after ischemic stroke

14p dauphong6 05-01-2012 43 7   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Development of a patient reported outcome scale for fatigue in multiple sclerosis: The Neurological Fatigue Index (NFI-MS)

10p panasonic05 23-12-2011 40 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Development of a patient reported outcome measure for fatigue in Motor Neurone Disease: The Neurological Fatigue Index (NFI-MND).

31p panasonic05 22-12-2011 64 5   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Postangiographic contrast enhancement mimicking acute subdural hemorrhage in a patient with severe occipital headache and neurological symptoms: a case report

4p dauphong1 22-12-2011 47 5   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report and review of the literature

5p dauphong1 21-12-2011 61 5   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Neurological presentation of Whipple's disease after long-term antibiotic treatment: a case report

3p dauphong1 21-12-2011 46 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The preventing recurrent vascular events and neurological worsening through intensive organized case-management (PREVENTION) trial protocol [clinicaltrials.gov identifier: NCT00931788]

9p panasonic03 17-12-2011 36 3   Download