Abstract:
:A murine model of Tay-Sachs disease, the prototype of the GM2 gangliosidoses, was produced through the targeted disruption of the Hexa gene encoding the subunit of alpha-hexosaminidase A. The mice were completely devoid of beta-hexosaminidase A activity and accumulated GM2 ganglioside in the CNS in an age-dependent manner. Neurons with membranous cytoplasmic bodies (MCBs), identical to those described in Tay-Sachs disease, were identified in the brain of these mice. The neurons with MCBs were periodic acid-Schiff-positive on frozen sections and immunostained with anti-GM2 ganglioside antibody. However, unlike Tay-Sachs disease in which neurons throughout the brain are affected, the localization of storage neurons in these mice appeared to be limited to certain regions, i.e., cerebral cortex, the hippocampus, amygdala, hypothalamus, mammillary nucleus, etc. Storage neurons were absent in the olfactory bulb, cerebellar cortex and spinal anterior horns. The difference in the distribution of storage neurons suggests a difference of ganglioside metabolism between humans and mice. This model is useful for the study of the pathogenic mechanisms of neuronal storage in Tay-Sachs disease and for the evaluation of therapeutic strategies.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Taniike M,Yamanaka S,Proia RL,Langaman C,Bone-Turrentine T,Suzuki Kdoi
10.1007/BF00309622subject
Has Abstractpub_date
1995-01-01 00:00:00pages
296-304issue
4eissn
0001-6322issn
1432-0533journal_volume
89pub_type
杂志文章abstract::Four of seven patients with nemaline myopathy had severe, rapidly progressing symptoms. These four showed an increase in acid phosphatase activity in muscle fibers demonstrated by histochemistry and cathepsin B&L activity by biochemical measurement. On electron microscopy, nemaline bodies, occasionally disorganized my...
journal_title:Acta neuropathologica
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journal_title:Acta neuropathologica
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journal_title:Acta neuropathologica
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journal_title:Acta neuropathologica
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journal_title:Acta neuropathologica
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更新日期:1987-01-01 00:00:00
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journal_title:Acta neuropathologica
pub_type: 杂志文章
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更新日期:2003-09-01 00:00:00
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journal_title:Acta neuropathologica
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更新日期:2006-09-01 00:00:00
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journal_title:Acta neuropathologica
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journal_title:Acta neuropathologica
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更新日期:2000-02-01 00:00:00
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journal_title:Acta neuropathologica
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journal_title:Acta neuropathologica
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doi:10.1007/BF00685010
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-010-0756-0
更新日期:2011-02-01 00:00:00
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688050
更新日期:1986-01-01 00:00:00
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-003-0716-z
更新日期:2003-09-01 00:00:00
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pub_type: 已发布勘误
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pub_type: 杂志文章
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journal_title:Acta neuropathologica
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更新日期:1985-01-01 00:00:00
abstract::Four melanin pigment-containing intracranial tumors were found in three Long-Evans rats in the course of experimental oncogenesis by transplacental ethylnitrosourea (ENU). One of them was a leptomeningeal melanoma. Aside from the presence of scattered melanin-pigmented cells, the other three had the typical histologic...
journal_title:Acta neuropathologica
pub_type: 杂志文章
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更新日期:1976-05-18 00:00:00
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pub_type: 杂志文章
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journal_title:Acta neuropathologica
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Acta neuropathologica
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pub_type: 杂志文章
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pub_type: 杂志文章,评审
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