Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease
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Transgenic nonhuman primates for neurodegenerative diseasesLess Is More: Substrate Reduction Therapy for Lysosomal Storage DisordersPathology of GM2 gangliosidosis in Jacob sheepMice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedureMouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairmentDramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseasesA genetic model of substrate deprivation therapy for a glycosphingolipid storage disorderFunctional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in miceTargeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type IISpecificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2Localization and imaging of gangliosides in mouse brain tissue sections by laserspray ionization inletNeuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease.Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophyHexosaminidase-altered aberrant crypts, carrying decreased hexosaminidase alpha and beta subunit mRNAs, in colon of 1,2-dimethylhydrazine-treated rats.Substrate reduction therapy for glycosphingolipid storage disorders.Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficitsEstablishment and properties of neural stem cell clones: plasticity in vitro and in vivo.Multi-system disorders of glycosphingolipid and ganglioside metabolismThe mousetrap: what we can learn when the mouse model does not mimic the human disease.Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis.Substrate reduction therapy in mouse models of the glycosphingolipidosesImpaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases.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.Quantitative analysis of glycans, related genes, and proteins in two human bone marrow stromal cell lines using an integrated strategyNovel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.Animal models for metabolic, neuromuscular and ophthalmological rare diseases.Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease.Lysosomal storage diseases of animals: an essay in comparative pathology.The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.Elevation of Global O-GlcNAc in rodents using a selective O-GlcNAcase inhibitor does not cause insulin resistance or perturb glucohomeostasisStructural organization and expression of the gene for the mouse GM2 activator protein.Kidney sulfatides in mouse models of inherited glycosphingolipid disorders: determination by nano-electrospray ionization tandem mass spectrometry.Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice.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
Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease
description
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
@fr
artículu científicu espublizáu en 1994
@ast
im Oktober 1994 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1994/10/11)
@sk
vědecký článek publikovaný v roce 1994
@cs
wetenschappelijk artikel (gepubliceerd op 1994/10/11)
@nl
наукова стаття, опублікована в жовтні 1994
@uk
name
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@ast
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@en
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@nl
type
label
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@ast
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@en
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@nl
prefLabel
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@ast
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@en
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@nl
P2093
P2860
P3181
P356
P1476
Targeted disruption of the Hex ...... features of Tay-Sachs disease
@en
P2093
A Grinberg
H Westphal
J N Crawley
M D Johnson
S Yamanaka
P2860
P304
P3181
P356
10.1073/PNAS.91.21.9975
P407
P577
1994-10-01T00:00:00Z