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Titolo:
Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis
Autore:
Stinchi, S; Lullmann-Rauch, R; Hartmann, D; Coenen, R; Beccari, T; Orlacchio, A; von Figura, K; Saftig, P;
Indirizzi:
Univ Gottingen, Zentrum Biochem & Mol Zellbiol, Biochem Abt 2, D-37073 Gottingen, Germany Univ Gottingen Gottingen Germany D-37073 t 2, D-37073 Gottingen, Germany Univ Perugia, Dipartimento Biol Cellulare & Mol, Sez Biochim & Biol Mol, I-06126 Perugia, Italy Univ Perugia Perugia Italy I-06126 im & Biol Mol, I-06126 Perugia, Italy Univ Kiel, Inst Anat, D-24043 Kiel, Germany Univ Kiel Kiel Germany D-24043 iv Kiel, Inst Anat, D-24043 Kiel, Germany
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 8, volume: 8, anno: 1999,
pagine: 1365 - 1372
SICI:
0964-6906(199908)8:8<1365:TDOTLA>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
CENTRAL-NERVOUS-SYSTEM; FULL-LENGTH CDNA; STORAGE-DISEASE; METACHROMATIC LEUKODYSTROPHY; MUCOPOLYSACCHARIDOSIS-VI; 6-PHOSPHATE RECEPTOR; MULTIPLE FORMS; TAY-SACHS; PURIFICATION; DEFICIENCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
44
Recensione:
Indirizzi per estratti:
Indirizzo: Saftig, P Univ Gottingen, Zentrum Biochem & Mol Zellbiol, Biochem Abt 2, Heinrich Duker Weg 12, D-37073 Gottingen, Germany Univ Gottingen Heinrich Duker Weg 12 Gottingen Germany D-37073
Citazione:
S. Stinchi et al., "Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis", HUM MOL GEN, 8(8), 1999, pp. 1365-1372

Abstract

alpha-Mannosidosis is a lysosomal storage disease with autosomal recessiveinheritance caused by a deficiency of the lysosomal alpha-mannosidase, which is involved in the degradation of asparagine-linked carbohydrate cores of glycoproteins, An alpha-mannosidosis mouse model was generated by targeted disruption of the gene for lysosomal alpha-mannosidase. Homozygous mutantanimals exhibit alpha-mannosidase enzyme deficiency and elevated urinary secretion of mannose-containing oligosaccharides, Thin-layer chromatography revealed an accumulation of oligosaccharides in liver, kidney, spleen, testis and brain, The cellular alterations were characterized by multiple membrane-limited cytoplasmic vacuoles as seen for instance in liver, exocrine pancreas, kidney, thyroid gland, smooth muscle cells, osteocytes and in various neurons of the central and peripherial nervous systems. The morphological lesions and their topographical distribution, as well as the biochemical alterations, closely resemble those reported for human alpha-mannosidosis, This mouse model will be a valuable tool for studying the pathogenesis of inherited alpha-mannosidosis and may help to evaluate therapeutic approachesfor lysosomal storage diseases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 09:35:22