(Q77202738)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

review article

1 reference

title

Glycosphingolipid degradation and animal models of GM2-gangliosidoses (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

T Kolter

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

K Sandhoff

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

publication date

1 August 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

3 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

page(s)

548-563

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9728335%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005419122018

3 December 2019

exact match

0 references

cites work

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12 December 2020

The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease)

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Signal transduction through lipid second messengers

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Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells

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Accumulation of sphingolipids in SAP-precursor (prosaposin)-deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor

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12 December 2020

A cerebrosidesulfatase from swine kidney

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Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease

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12 December 2020

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

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12 December 2020

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases

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12 December 2020

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

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12 December 2020

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase

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12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

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12 December 2020

Animal glycosphingolipids as membrane attachment sites for bacteria

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12 December 2020

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

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12 December 2020

Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system

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12 December 2020

The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein

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12 December 2020

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphi

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12 December 2020

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

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12 December 2020

The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A

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12 December 2020

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

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12 December 2020

Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease

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12 December 2020

Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant

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12 December 2020

Glycosphingolipids in cell surface recognition

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12 December 2020

Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease

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12 December 2020

Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro

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12 December 2020

Activator proteins and topology of lysosomal sphingolipid catabolism.

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12 December 2020

The mannose 6-phosphate receptor and the biogenesis of lysosomes

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12 December 2020

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

1 reference

12 December 2020

Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant

1 reference

12 December 2020

Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease).

1 reference

12 December 2020

Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain.

1 reference

12 December 2020

Intracellular lipid heterogeneity caused by topology of synthesis and specificity in transport. Example: sphingolipids.

1 reference

12 December 2020

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

1 reference

12 December 2020

N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing

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12 December 2020

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

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12 December 2020

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

1 reference

12 December 2020

Gangliosides as modulators of cell function

1 reference

12 December 2020

Absence of MHC class II molecules reduces CNS demyelination, microglial/macrophage infiltration, and twitching in murine globoid cell leukodystrophy

1 reference

12 December 2020

Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment

1 reference

12 December 2020

Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis

1 reference

12 December 2020

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

1 reference

12 December 2020

Ganglioside metabolism. Enzymology, Topology, and regulation

1 reference

12 December 2020

Neurological manifestations of knockout mice with beta-galactosidase deficiency

1 reference

12 December 2020

Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease

1 reference

12 December 2020

Topology of glycosphingolipid degradation.

1 reference

12 December 2020

Glycosphingolipids in cellular interaction, differentiation, and oncogenesis

1 reference

12 December 2020

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

1 reference

12 December 2020

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease

1 reference

12 December 2020

alpha-Galactosidase A deficient mice: a model of Fabry disease

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12 December 2020

[Glycolipids of the cell surface--biochemistry of their decomposition].

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12 December 2020

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

1 reference

12 December 2020

Characterization of a nonspecific activator protein for the enzymatic hydrolysis of glycolipids

1 reference

12 December 2020