Gaucher's disease: molecular, genetic and enzymological aspects (Q41719180)

8 October 2017

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title

Gaucher's disease: molecular, genetic and enzymological aspects (English)

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8 October 2017

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Grabowski GA

1

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8 October 2017

Horowitz M

series ordinal

2

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8 October 2017

publication date

1 December 1997

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Best Practice and Research: Clinical Haematology

8 October 2017

published in

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8 October 2017

volume

10

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8 October 2017

issue

4

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8 October 2017

page(s)

635-656

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Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

8 October 2017

cites work

1 reference

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7 January 2021

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

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7 January 2021

Mechanism of activation of glucocerebrosidase by CO-β-glucosidase (glucosidase activator protein)

1 reference

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7 January 2021

Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution

1 reference

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7 January 2021

Two new Gaucher disease mutations

1 reference

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7 January 2021

Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Identification of six new Gaucher disease mutations

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7 January 2021

Five new Gaucher disease mutations

1 reference

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7 January 2021

Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient

1 reference

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7 January 2021

Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Biosynthesis and molecular cloning of sulfated glycoprotein 1 secreted by rat Sertoli cells: sequence similarity with the 70-kilodalton precursor to sulfatide/GM1 activator

1 reference

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7 January 2021

Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings

1 reference

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7 January 2021

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

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7 January 2021

Gaucher disease in Spanish patients: Analysis of eight mutations

1 reference

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7 January 2021

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Skeletal complications of type I Gaucher disease: the magnetic resonance features

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Blood glucosylceramide levels in Gaucher's disease and its distribution amongst lipoprotein fractions

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Regulation of expression of the gene encoding human acid beta-glucosidase in different cell types

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7 January 2021

Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease

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https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Prevalent and rare mutations among Gaucher patients

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https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Three unique base pair changes in a family with Gaucher disease

1 reference

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7 January 2021

Lipid composition of the brain in infantile Gaucher's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Gaucher disease: gene frequencies and genotype/phenotype correlations

1 reference

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7 January 2021

Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient

1 reference

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7 January 2021

Human acid beta-glucosidase: use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active site

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Glucocerebrosidase: reconstitution of activity from macromolecular components (Short Communication)

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Sequence of two alleles responsible for Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Mutations causing Gaucher disease

1 reference

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7 January 2021

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

The gene coding for a sphingolipid activator protein, SAP-1, is on human chromosome 10

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

The cohydrolases in human spleen that stimulate glucosyl ceramide beta-glucosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

1 reference

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7 January 2021

Type 2 and type 3 Gaucher disease: a morphological and biochemical study

1 reference

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7 January 2021

A hydrophilic peptide comprising 18 amino acid residues of the prosaposin sequence has neurotrophic activity in vitro and in vivo.

1 reference

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7 January 2021

Prosaposin facilitates sciatic nerve regeneration in vivo

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7 January 2021

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

1 reference

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7 January 2021

Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene

1 reference

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7 January 2021

Proteolytic processing patterns of prosaposin in insect and mammalian cells

1 reference

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7 January 2021

Mutation analysis of 28 Gaucher disease patients: the Australasian experience

1 reference

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7 January 2021

Identification of factors regulating the expression of the human glucocerebrosidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

The molecular characterization of Gaucher disease in South Africa

1 reference

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7 January 2021

Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator

1 reference

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7 January 2021

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

1 reference

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7 January 2021

Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Identification of the neurotrophic factor sequence of prosaposin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

A novel splicing abnormality in a Japanese patient with Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Functional organization of saposin C. Definition of the neurotrophic and acid beta-glucosidase activation regions

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Differential expression of the human glucocerebrosidase-coding gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Structural analysis of the human glucocerebrosidase genes.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

HPLC analysis of neutral glycolipids: an aid in the diagnosis of lysosomal storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Function of saposin C in the reconstitution of glucosylceramidase by phosphatidylserine liposomes

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Saposin C induces pH-dependent destabilization and fusion of phosphatidylserine-containing vesicles

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Biosynthesis, processing, and targeting of sphingolipid activator protein (SAP )precursor in cultured human fibroblasts. Mannose 6-phosphate receptor-independent endocytosis of SAP precursor

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

Identification of the binding and activating sites of the sphingolipid activator protein, saposin C, with glucocerebrosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980032-7

7 January 2021

10.1016/S0950-3536(97)80032-7

Identifiers

DOI

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8 October 2017

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