Genetics of Gaucher's disease. Genotype-phenotype correlation (Q50518887)

14 March 2018

title

Genetics of Gaucher's disease. Genotype-phenotype correlation (English)

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14 March 2018

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Pilar Alfonso Palacín

series ordinal

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14 March 2018

Miguel Pocoví

series ordinal

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14 March 2018

language of work or name

Spanish

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publication date

1 September 2011

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14 March 2018

published in

Medicina clínica

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14 March 2018

volume

137 Suppl 1

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14 March 2018

page(s)

17-22

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14 March 2018

Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)

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Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

7 January 2021

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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

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Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease

7 January 2021

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Structure and organization of the human metaxin gene (MTX) and pseudogene

7 January 2021

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Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion

7 January 2021

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Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease

7 January 2021

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A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease

7 January 2021

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Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene

7 January 2021

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Regulation of the human acid beta-glucosidase promoter in multiple cell types

7 January 2021

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Differential expression of the human glucocerebrosidase-coding gene

7 January 2021

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In silico and functional studies of the regulation of the glucocerebrosidase gene

7 January 2021

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Identification of factors regulating the expression of the human glucocerebrosidase gene

7 January 2021

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Structural analysis of the human glucocerebrosidase genes.

7 January 2021

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Overexpression of human glucocerebrosidase containing different-sized leaders.

7 January 2021

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

7 January 2021

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Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes

7 January 2021

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

7 January 2021

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Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

7 January 2021

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Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease

7 January 2021

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The E326K mutation and Gaucher disease: mutation or polymorphism?

7 January 2021

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Glucocerebrosidase mutation T369M appears to be another polymorphism

7 January 2021

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Polymorphisms in the human glucocerebrosidase gene

7 January 2021

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1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease

7 January 2021

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Differences in origin of the 1448C mutation in patients with Gaucher disease

7 January 2021

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Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.

7 January 2021

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New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms

7 January 2021

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Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease

7 January 2021

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Acid beta-glucosidase: intrinsic fluorescence and conformational changes induced by phospholipids and saposin C.

7 January 2021

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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

7 January 2021

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Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder

7 January 2021

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

7 January 2021

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Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations

7 January 2021

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Gaucher disease: gene frequencies and genotype/phenotype correlations

7 January 2021

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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

7 January 2021

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Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

7 January 2021

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Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

7 January 2021

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

7 January 2021

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Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

7 January 2021

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Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

7 January 2021

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Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

7 January 2021

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Mutation analysis in 46 British and Irish patients with Gaucher's disease

7 January 2021

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Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

7 January 2021

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Gaucher disease: complexity in a "simple" disorder

7 January 2021

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Twin pairs showing discordance of phenotype in adult Gaucher's disease

7 January 2021

1 reference

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A monozygotic twin pair with highly discordant Gaucher phenotypes

7 January 2021

1 reference

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Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7753%2811%2970012-4

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0025-7753(11)70012-4

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14 March 2018

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14 March 2018