Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism - Wikidata - thesis-toulmin - TriplyDB

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

http://www.wikidata.org/entity/Q28593406

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Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase Transgenic nonhuman primates for neurodegenerative diseases Animal models of GM2 gangliosidosis: utility and limitations Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders Podocyte pathology and nephropathy - sphingolipids in glomerular diseases Impaired neural differentiation of induced pluripotent stem cells generated from a mouse model of Sandhoff disease Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates Characterization of inducible models of Tay-Sachs and related disease Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss Pathology of GM2 gangliosidosis in Jacob sheep Degradation of G(M1) and G(M2) by mammalian sialidases Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2 FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease Effective gene therapy in an authentic model of Tay-Sachs-related diseases Criteria for validating mouse models of psychiatric diseases Role for lysosomal enzyme beta-hexosaminidase in the control of mycobacteria infection.A novel instrumented multipeg running wheel system, Step-Wheel, for monitoring and controlling complex sequential stepping in mice Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy Physiological substrates for human lysosomal beta -hexosaminidase S.Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations.Hexosaminidase-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.Synthesis of reference standards to enable single cell metabolomic studies of tetramethylrhodamine-labeled ganglioside GM1.Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficits Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.Thymic alterations in GM2 gangliosidoses model mice.The glycosphingolipidoses-from disease to basic principles of metabolism.Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage

P2860

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P2860

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

http://www.wikidata.org/entity/Q28593406

description

1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1995 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

articolo scientifico

@it

artículu científicu espublizáu en 1995

@ast

im Oktober 1995 veröffentlichter wissenschaftlicher Artikel

@de

scientific journal article

@en

vedecký článok (publikovaný 1995/10/01)

@sk

vědecký článek publikovaný v roce 1995

@cs

wetenschappelijk artikel (gepubliceerd op 1995/10/01)

@nl

наукова стаття, опублікована в жовтні 1995

@uk

name

Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

@ast

Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

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Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

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type

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Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

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Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

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Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

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Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

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Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

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Nature Genetics

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Mouse models of Tay-Sachs and ...... ype and ganglioside metabolism

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A. Grinberg

http://www.w3.org/2001/XMLSchema#string

A. Hoffmann

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H. Westphal

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J. N. Crawley

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K. Sandhoff

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K. Sango

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K. Suzuki

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M. P. McDonald

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R. L. Proia

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S. Yamanaka

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P2860

Over-expression of a functionally active human GM2-activator protein in Escherichia coli

Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral sensory nervous system

Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.

The biochemistry of sphingolipid storage diseases.

Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease

P2888

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170–176

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scholarly article

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1684846

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10.1038/NG1095-170

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2

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11

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15649462

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1021819814

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7550345

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P921

Hexosaminidase B

Tay-Sachs disease