Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease
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I-SceI-induced gene replacement at a natural locus in embryonic stem cellsPathology of GM2 gangliosidosis in Jacob sheepTargeted disruption of otog results in deafness and severe imbalanceSpecificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis.Substrate reduction therapy in mouse models of the glycosphingolipidosesGene therapy for lysosomal storage diseases (LSDs) in large animal models.Neuraminidase-1 contributes significantly to the degradation of neuronal B-series gangliosides but not to the bypass of the catabolic block in Tay-Sachs mouse models.Animal models for mucopolysaccharidosis disorders and their clinical relevance.Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts.Structural organization and expression of the gene for the mouse GM2 activator protein.Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease.Catabolism of asialo-GM2 in man and mouse. Specificity of human/mouse chimeric GM2 activator proteins.
P2860
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P2860
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease
description
1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1995
@ast
im Dezember 1995 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1995/12/01)
@sk
vědecký článek publikovaný v roce 1995
@cs
wetenschappelijk artikel (gepubliceerd op 1995/12/01)
@nl
наукова стаття, опублікована в грудні 1995
@uk
مقالة علمية (نشرت في ديسمبر 1995)
@ar
name
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@ast
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@en
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@nl
type
label
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@ast
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@en
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@nl
prefLabel
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@ast
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@en
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@nl
P2093
P356
P1433
P1476
Disruption of murine Hexa gene ...... observed in Tay-Sachs disease
@en
P2093
A L Muggleton-Harris
M C Nassogne
P Gressens
P Marchand
S A Sheardown
P2888
P304
P356
10.1007/BF00292433
P577
1995-12-01T00:00:00Z