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Titolo:
Caprine mucopolysaccharidosis IIID - A preliminary trial of enzyme replacement therapy
Autore:
Downs-Kelly, E; Jones, MZ; Alroy, J; Cavanagh, KT; King, B; Lucas, RE; Baker, JC; Kraemer, SA; Hopwood, JJ;
Indirizzi:
Michigan State Univ, Div Human Pathol, Coll Human Med, E Lansing, MI 48824USA Michigan State Univ E Lansing MI USA 48824 an Med, E Lansing, MI 48824USA Michigan State Univ, Coll Osteopath Med, E Lansing, MI 48824 USA Michigan State Univ E Lansing MI USA 48824 h Med, E Lansing, MI 48824 USA Michigan State Univ, Dept Large Anim Clin Sci, Coll Vet Med, E Lansing, MI48824 USA Michigan State Univ E Lansing MI USA 48824 et Med, E Lansing, MI48824 USA Tufts Univ, Sch Med, Dept Pathol, Boston, MA 02111 USA Tufts Univ Boston MA USA 02111 Sch Med, Dept Pathol, Boston, MA 02111 USA Tufts Univ, Sch Vet Med, Dept Pathol, Boston, MA 02111 USA Tufts Univ Boston MA USA 02111 Vet Med, Dept Pathol, Boston, MA 02111 USA Womens & Childrens Hosp, Lysosomal Storage Dis Unit, Dept Chem Pathol, N Adelaide, SA, Australia Womens & Childrens Hosp N Adelaide SA Australia Adelaide, SA, Australia
Titolo Testata:
JOURNAL OF MOLECULAR NEUROSCIENCE
fascicolo: 3, volume: 15, anno: 2000,
pagine: 251 - 262
SICI:
0895-8696(200012)15:3<251:CMI-AP>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECOMBINANT BETA-GLUCURONIDASE; N-ACETYLGLUCOSAMINE 6-SULFATE; BONE-MARROW TRANSPLANTATION; SANFILIPPO-SYNDROME; FELINE MODEL; LYSOSOMAL STORAGE; CANINE MODEL; N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY; IMMUNOHISTOCHEMICAL CHARACTERISTICS; HEPARAN-SULFATE;
Keywords:
mucopolysaccharidosis; MPS IIID; Sanfilippo syndrome; N-acetylglucosamine 6-sulfatase; enzyme replacement therapy; central nervous system; lysosomal storage diseases; heparan sulfate; glycosaminoglycans;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
44
Recensione:
Indirizzi per estratti:
Indirizzo: Jones, MZ Michigan State Univ, Div Human Pathol, Coll Human Med, E Lansing, MI 48824USA Michigan State Univ E Lansing MI USA 48824 Lansing, MI 48824USA
Citazione:
E. Downs-Kelly et al., "Caprine mucopolysaccharidosis IIID - A preliminary trial of enzyme replacement therapy", J MOL NEURO, 15(3), 2000, pp. 251-262

Abstract

Mucopolysaccharidosis type IIID (MPS IIID) is a lysosomal storage disorderresulting from lack of activity of the lysosomal hydrolase N-acetylglucosamine 6-sulfatase (6S) (EC 3.1.6.14). The syndrome is associated with systemic and central nervous system (CNS) heparan sulfate glycosaminoglycan (HS-GAG) accumulation, secondary storage of lipids, and severe, progressive dementia. In this investigation, caprine MPS IIID, established as a large animal model for the human disease, was used to evaluate the efficacy of enzyme replacement therapy (ERT). Recombinant caprine 6S (rc6S) (1 mg/kg/dose) wasadministered intravenously to one MPS IIID goat kid at 2, 3, and 4 wks of age. Five days after the last dose, the uronic acid (UA) content and the composition of uncatabolized MS-GAG fractions in the brain of the ERT-treatedMPS IIID kid were similar to those from a control, untreated MPS IIID animal. However, hepatic uronic acid levels in the treated MPS IIID kid were approximately 90% lower than those in the untreated MPS IIID control; whereasthe composition of the residual hepatic MS-GAG was identical to that in the untreated animal. Marked reduction of lysosomal storage vacuoles in hepatic cells of the treated MPS IIID kid was observed, but ERT had no effect onCNS lesions. No residual 6S activity was detected in brain or liver. This preliminary investigation indicates that other treatment regimens will be necessary to ameliorate MPS III-related CNS lesions.

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Documento generato il 04/04/20 alle ore 09:09:09