Extractions: GENE THERAPY OF SANFILIPPO SYNDROME USING ADENO-ASSOCIATED VIRAL VECTORS. Hiayan Fu and Joseph Muenzer. University of North Carolina, Chapel Hill, NC ( muenzer@med.unc.edu Mucopolysaccharidoses type III B (Sanfilippo syndrome B, MPS III B) is an autosomal recessive disorder caused by the deficiency of the lysosomal enzyme -N-acetylglucosaminidase (NaGlu), resulting in lysosomal accumulation of heparan sulfate. The Sanfilippo syndrome is characterized by hyperactivity, mild somatic involvement, but severe neurological degeneration leading to premature death. No definite treatment is available for patients with Sanfilippo syndrome. The goal of this study was to investigate the potential of AAV-mediated recombinant NaGlu (rNaGlu) for the treatment of the neurological disease in MPS III B using a knock-out mouse model (Li et al , PNAS, 1999, 96:14505). Two recombinant AAV vectors, AAV-NSE-hNaGlu and AAV-NSE-EGFP, containing either a human NaGlu coding region cDNA or an enhanced green fluorescent protein gene (EGFP), driven by a neuron-specific enolase (NSE) promoter, were constructed. AAV-NSE-hNaGlu viral vector was delivered into the thalamus of adult MPS III B mouse brains by a single direct microinjection (10 transducing units in 1 l over 10 min) to study AAV-mediated expression of NaGlu and the correction of lysosomal storage. AAV-NSE-EGFP was microinjected into the thalamic area of the MPS III B mouse brain, to visualize the distribution of transduction by a single injection. Efficient expression of NaGlu (5-100 fold higher than that in normal mouse brain) was detected in the injected thalamic tissues compared with that in non-injected contralateral tissues, and persisted at a high level for at least 6 months after a single injection. Decreased vacuolization was seen in the neurons in most thalamic nuclei involving an area of approximately 1.5 mm surrounding the infusion site for at least 3 months after the infusion. Neurons, including large multipolar neurons, were observed to be the major target of the AAV-NSE-EGFP vector, in an area of approximately 500-600
Extractions: MACROPHAGES IN THE MOUSE MODEL OF SANFILIPPO SYNDROME TYPE B. Elizabeth F. Neufeld , Kazuhiro Ohmi , Nora Rozengurt and Sergey Ryazantsev Department of Biological Chemistry and eneufeld@mednet.ucla.edu The Sanfilippo syndrome type B (MPS III B) is a neurodegenerative disease of children, caused by mutations in the gene encoding Naglu -/-, displays lysosomal pathology in many types of cells, including macrophages, epithelial cells and neurons. Earlier work had shown that Kupffer cells were much more prominently involved than hepatocytes, and that enzyme targeted to the mannose receptor of macrophages depleted the liver of its glycosaminoglycan accumulation and restored essentially normal morphology (Yu et al, Mol Genet Metab 71: 573-580, 2000). Macrophage-like cells in brain (microglia) are readily seen by both light and electron microscopy in the brain of affected mice because of their distended and nearly empty vacuoles characteristic of lysosomal storage of glycosaminoglycans. The microglia are often in direct contact with neurons. Frozen or vibratome sections of brain were immuno-stained with MOMA2, a marker of activated microglia. No MOMA-2 positive cells were seen in brain of 2-week-old Naglu -/- mice, but appeared at I month and became progressively more numerous with age. MOMA-2 positive cells stained intensely with antibodies against the lysosomal membrane proteins LAMP-1 and LAMP-2, confirming the increase in lysosomal storage in microglia. The MOMA-2 positive cells also stained with antibodies against gangliosides GM2 and GM3. Since these gangliosides are normal components of neuronal plasma membranes, they may accumulate in microglia that are ingesting damaged neurons. Microglial storage may account for the elevated level of GM2 and GM3 gangliosides that occurs in brain of
Welcome To AJC! sanfilippo syndrome. This substance is called heparan sulfate, and in sanfilippo syndrome, large amounts of it are excreted in the urine. Causes and Risks. http://www.ajc.com/search/healthfd/shared/health/adam/ency/article/001210.html
Extractions: Subscribe ... Register Now It's Free! Log in E-mail preferences Site Index Search: Site Yellow Pages Customer care ajc.com Nation/World Metro ... Personals ajc services Archives Advertise online Advertise in print Obituaries ... Sitemap Print edition Today This week A1 image E-mail News Sign up for our Ency. home Disease S Sanfilippo syndrome Overview Symptoms Treatment Prevention Alternative names: Mucopolysaccharidosis type III (subtypes A - B - C-D); Type IIIA = heparan sulfate sulfatase deficiency; Type IIIB = N-acetylglucosaminidase deficiency; Type IIID = N-acetylglucosamine-6-sulfate sulfatase deficiency Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, and it is characterized by the absence of one of several enzymes . These enzymes help the body get rid of a substance normally found outside of our cells called a mucopolysaccharide. This substance is called heparan sulfate, and in Sanfilippo syndrome, large amounts of it are excreted in the urine. Causes and Risks Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. Sanfilippo syndrome has a relatively late onset rather than during the first year of life.
Untitled MPS type IIIA (IDUA); sanfilippo syndrome type A. MPS type IIIB (NAGLU); sanfilippo syndrome type B. MPS type IIIC (GNAT); sanfilippo syndrome type C. http://www.peds.umn.edu/Centers/gene/mutation/
Extractions: Clicking on the name of the condition links to the corresponding description at the Online Mendelian Inheritance in Man ( OMIM ) site. Mutations for each gene for MPS are being tabulated to describe the global experience. In each case, clicking on the HUGO abbreviation (denoted in parentheses) links to a Mutation Database for that gene. In many cases, such mutation can be "correlated" with various phenotypes (i.e., "genotype-phenotype correlation") with the hobe that the cummulative experience will provide predictive information (i.e., "prognosis") as well as assist in the interpretation of experimental clinical trials. Those who use this information are encouraged to check its validity and to notify the Curator of any errors or new information. MPS type I (IDUA); Hurler, Scheie, and Hurler-Scheie, syndromes MPS type II (IDS); Hunter syndrome MPS type IIIA (IDUA); Sanfilippo syndrome type A MPS type IIIB (NAGLU); Sanfilippo syndrome type B MPS type IIIC (GNAT); Sanfilippo syndrome type C MPS type IIID (G6S);
Sanfilippo Syndrome sanfilippo syndrome. Definition This substance is called heparan sulfate, and in sanfilippo syndrome, large amounts of it are excreted in the urine. http://www.valleybaptist.net/ency/article/001210.htm
Extractions: Disease Injury Nutrition Poison ... Prevention Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, and it is characterized by the absence of one of several enzymes . These enzymes help the body get rid of a substance normally found outside of our cells called a mucopolysaccharide. This substance is called heparan sulfate, and in Sanfilippo syndrome, large amounts of it are excreted in the urine. Causes, incidence, and risk factors: Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. Sanfilippo syndrome has a relatively late onset rather than during the first year of life. It shares, in common with most of the mucopolysaccharide storage diseases, coarse facial features, decreased mental development that progresses to severe mental retardation , stiff joints, gait disturbances, speech disturbances , and behavioral problems.
Extractions: VERONICA YANKOWSKI staff Kathy Smith was moved by the outpouring of support she received from the community after the News Transcript published a story about her sons Sean (l), 7, and Robert, 8, who both have Sanfilippo syndrome. More than 300 people attended a benefit held on Sept. 28 at Leggetts Sand Bar, Manasquan, the beach town where Kathy grew up. John Paglia, the owner of the tavern, donated the space, along with food, drinks and music. Each participant spent $30 for a buffet and two drinks, knowing that the money would go to a fund set up in the names of Smiths sons, Sean and Robert. A story about Smiths boys was published in the Sept. 24 issue of the News Transcript. The family lives in Freehold Township.
Sanfilippo Syndrome sanfilippo syndrome Directory Guide to sanfilippo syndrome sites on the internet. sanfilippo syndrome. http://www.directory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Sanfil
Sanfilippo Syndrome From Linkspider UK Health Directory sanfilippo syndrome by Linkspider UK, sanfilippo syndrome links and sanfilippo syndrome topics from our Health directory. Helping http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Sanfilippo
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Sanfilippo Syndrome sanfilippo syndrome. Definition In sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. http://www.shands.org/health/information/article/001210.htm
Extractions: Disease Injury Nutrition Poison ... Z Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Causes, incidence, and risk factors: Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life. As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe
UMB 563 CASE IDENTIFICATION CODE. UMB 563. DISORDER Mucopolysaccharidosis, sanfilippo syndrome AGE 11 year(s) 98 day(s) SEX Female RACE Caucasian POST MORTEM INTERVAL http://medschool.umaryland.edu/BTBank/UMB_0563.htm
Disease - Sanfilippo Syndrome, North Carolina Disease sanfilippo syndrome, Online Medical Encyclopedia courtesy of University Health Systems of Eastern Carolina serving 29 counties in eastern North http://www.uhseast.com/11661.cfm
Extractions: Back Email Us Search Centers of Excellence ... Disease Management Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Causes And Risk: Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life. As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe
Resource Library Find Information On Sanfilippo Syndrome At Find information on sanfilippo syndrome at MerckSource. Learn more about sanfilippo syndrome. Definition sanfilippo syndrome is http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns
Sanfilippo Syndrome sanfilippo syndrome. Definition In sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. http://www.drkoop.com/ency/article/001210.htm
Extractions: Advertisement Disease Injury Nutrition Poison ... Prevention Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID)
Mioti: Diseases + Conditions Diseases + Conditions sanfilippo syndrome. Search Mioti MEDLINEplus sanfilippo syndrome. MEDLINEplus, a goldmine of good health http://www.mioti.com/cat/condition/condition.asp?Cat=SanfilippoSyndrome
Sanfilippo Syndrome sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes. http://www.pennhealth.com/ency/article/001210.htm
Extractions: Search Encyclopedia: List of Topics Print This Page  Endocrinology Definition: Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, which are characterized by the absence of one of several enzymes . Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. In Sanfilippo syndrome, large amounts of a mucopolysaccharide called heparan sulfate is excreted in the urine. Alternative Names: Mucopolysaccharidosis type III (subtypes A - B - C - D); Heparan sulfate sulfatase deficiency (Type IIIA); N-acetylglucosaminidase deficiency (Type IIIB); Acetyl-CoA alpha-glucosaminide N-acetyltransferase deficiency (Type IIIC); N-acetylglucosamine-6-sulfate sulfatase deficiency (Type IIID) Causes, incidence, and risk factors: Sanfilippo syndrome is transmitted as an autosomal recessive trait. It is possibly the most common of the mucopolysaccharide storage diseases. In Sanfilippo syndrome, onset is relatively late, rather than during the first year of life. As with most of the mucopolysaccharide storage diseases, affected individuals have coarse facial features, decreased mental development that progresses to severe
