[Sphingolipid storage diseases of the central nervous system: bases of biochemical and clinical heterogeneity] (Q70391947)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

review article

1 reference

title

[Sphingolipid storage diseases of the central nervous system: bases of biochemical and clinical heterogeneity] (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference

1 reference

K Sandhoff

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

L Quintern

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

publication date

1 March 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

published in

The Science of Nature

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

volume

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

page(s)

123-131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00405302

10 October 2019

exact match

0 references

cites work

Mutation in GM2-gangliosidosis B1 variant

1 reference

12 December 2020

Molecular cloning of the sphingolipid activator protein-1 (SAP-1), the sulfatide sulfatase activator

1 reference

12 December 2020

Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases

1 reference

12 December 2020

Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship

1 reference

12 December 2020

Clinical Course of GM2Gangliosidoses - A Correlative Attempt

1 reference

12 December 2020

Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype

1 reference

12 December 2020

Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects.

1 reference

12 December 2020

Mapping of the gene coding for the human GM2 activator protein to chromosome 5

1 reference

12 December 2020

Model for the interaction of membrane-bound substrates and enzymes. Hydrolysis of ganglioside GD1a by sialidase of neuronal membranes isolated from calf brain

1 reference

12 December 2020

Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts

1 reference

12 December 2020

Alterations in neuron morphology in feline mannosidosis. A Golgi study

1 reference

12 December 2020

Hexosaminidase-A and hexosaminidase-B: studies in Tay-Sachs' and Sandhoff's disease

1 reference

12 December 2020

Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

1 reference

12 December 2020

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease

1 reference

12 December 2020

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

1 reference

12 December 2020

Complexing of Glycolipids and Their Transfer between Membranes by the Activator Protein for Degradation of Lysosomal Ganglioside GM2

1 reference

12 December 2020

Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype

1 reference

12 December 2020

Impaired Phosphorylation of Lysosomal Enzymes in Fibroblasts of Patients with Mucolipidosis III

1 reference

12 December 2020

Studies on human beta-D-N-acetylhexosaminidases. 3. Biochemical genetics of Tay-Sachs and Sandhoff's diseases.

1 reference

12 December 2020

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease

1 reference

12 December 2020

[On the spreading of the amaurotic idiocy processes in the central nervous system at various ages and on features of a late form with regard to pigment atrophy]

1 reference

12 December 2020

Membrane-bound neuraminidase from calf brain: regulation of oligosialoganglioside degradation by membrane fluidity and membrane components

1 reference

12 December 2020

Halothane Increases Membrane Fluidity and Stimulates Sphingomyelin Degradation by Membrane-Bound Neutral Sphingomyelinase of Synaptosomal Plasma Membranes from Calf Brain Already at Clinical Concentrations

1 reference

12 December 2020

Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum.

1 reference

12 December 2020

THE QUANTITATIVE DETERMINATION OF GANGLIOSIDES AND THEIR NEURAMINIC ACID-FREE DERIVATIVES IN INFANTILE, JUVENILE AND FORMS OF AMAUROTIC IDIOCY AND AN UNUSUAL LATE INFANTILE BIOCHEMICAL FORM

1 reference

12 December 2020

Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity

1 reference

12 December 2020

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2

1 reference

12 December 2020

Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system

1 reference

12 December 2020

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A

1 reference

12 December 2020

Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A

1 reference

12 December 2020

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

1 reference

12 December 2020

The Biochemical Basis of Gangliosidoses

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

Activator proteins for lysosomal glycolipid hydrolysis

1 reference

12 December 2020

The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease

1 reference

12 December 2020

Specific gangliosides function as host cell receptors for Sendai virus

1 reference

12 December 2020

Biochemistry and Genetics of gangliosidoses

1 reference

12 December 2020

Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B

1 reference

12 December 2020

Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase

1 reference

12 December 2020

Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease?

1 reference

12 December 2020

Molecular cloning of a cDNA for human alpha-L-fucosidase

1 reference

12 December 2020

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

1 reference

12 December 2020

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis

1 reference

12 December 2020

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

1 reference

12 December 2020

Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease

1 reference

12 December 2020

Enzyme-linked immunosorbent assay for the ganglioside GM2-activator protein. Screening of normal human tissues and body fluids, of tissues of GM2 gangliosidosis, and for its subcellular localization

1 reference

12 December 2020

Glycosphingolipids in cellular interaction, differentiation, and oncogenesis

1 reference

12 December 2020

Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts

1 reference

12 December 2020

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

1 reference

12 December 2020

Structures and organization of cell surface glycolipids dependency on cell growth and malignant transformation

1 reference

12 December 2020

The influence of ganglioside insertion into brain membranes on the rate of ganglioside degradation by membrane-bound sialidase

1 reference

12 December 2020

Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases

1 reference

12 December 2020

Deficiency of UDP-N-acetylglucosamine: Lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00405302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3132618%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference