(Q28138411)

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

N-Acetyl-β-glucosaminidases in human spleen

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Enzyme alterations and lipid storage in three variants of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Assignment of β-hexosaminidase A α-subunit to human chromosomal region 15q23→q24

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

XmnI RFLP at 5q13 detected by a 0.49 kb Xmn I fragment of human hexosaminidase (HEXB) cDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Separation and characterisation of N-acetyl-β-glucosaminidases A and P from maternal serum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Discrimination of the isozymes of human placental hexosaminidase by kinetic parameter estimation

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Activator proteins and topology of lysosomal sphingolipid catabolism.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Degradation of keratan sulphate by beta-N-acetylhexosaminidases A and B.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Activating Proteins for Ganglioside GM2Degradation by β-Hexosaminidase Isoenzymes in Tissue Extracts from Different Species

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Function of the two mannose 6-phosphate receptors in lysosomal enzyme transport

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The biogenesis of lysosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The amino-terminal sequences in the pro-alpha and -beta polypeptides of human lysosomal beta-hexosaminidase A and B are retained in the mature isozymes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Complete localization of disulfide bonds in GM2 activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Biosynthesis, processing, and intracellular transport of GM2 activator protein in human epidermal keratinocytes. The lysosomal targeting of the GM2 activator is independent of a mannose-6-phosphate signal

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Two mechanisms for the recapture of extracellular GM2 activator protein: evidence for a major secretory form of the protein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Evidence for two cDNA clones encoding human GM2-activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Isolation and expression of a full-length cDNA encoding the human GM2 activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Splicing of messenger RNA precursors

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Identification of proteins that interact with exon sequences, splice sites, and the branchpoint sequence during each stage of spliceosome assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular chaperones and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Defective phosphorylation and processing of beta-hexosaminidase by intact cultured fibroblasts from patients with mucolipidosis III

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Calnexin: a membrane-bound chaperone of the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Protein oligomerization in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Control of protein exit from the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A recycling pathway between the endoplasmic reticulum and the Golgi apparatus for retention of unassembled MHC class I molecules

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A C-terminal signal prevents secretion of luminal ER proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A human homologue of the yeast HDEL receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular chaperones involved in protein degradation in the endoplasmic reticulum: quantitative interaction of the heat shock cognate protein BiP with partially folded immunoglobulin light chains that are degraded in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Roles of molecular chaperones in protein degradation

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The pro-peptide of the pro beta-polypeptide chain of human beta-hexosaminidase is necessary for proper protein folding and exit from the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Degradation of CFTR by the ubiquitin-proteasome pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

ER degradation of a misfolded luminal protein by the cytosolic ubiquitin-proteasome pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

BenignHEXAMutations, C739T(R247W) and C745T(R249W), Cause β-Hexosaminidase A Pseudodeficiency by Reducing the α-Subunit Protein Levels

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Genetic analysis of protein stability and function

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Mutational effects on protein stability

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Denatured states of proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Hexosaminidase A deficiency in adults

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Vacuolar/lysosomal proteolysis: proteases, substrates, mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Lysosomes, a meeting point of proteins, chaperones, and proteases

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Proteases and proteolysis in the lysosome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Mutation in GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The classification of amino acid conservation.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Biochemical and Molecular Aspects of Late-Onset GM2-Gangliosidosis: B1 Variant as a Prototype

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Structural and functional characterization of Streptomyces plicatus beta-N-acetylhexosaminidase by comparative molecular modeling and site-directed mutagenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

N-Acetylglucosaminidase (chitobiase) from Serratia marcescens: gene sequence, and protein production and purification in Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Identification of an active acidic residue in the catalytic site of beta-hexosaminidase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Identification of functional domains within the alpha and beta subunits of beta-hexosaminidase A through the expression of alpha-beta fusion proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Identification of domains in human beta-hexosaminidase that determine substrate specificity

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Characterization of the affinity of the G(M2) activator protein for glycolipids by a fluorescence dequenching assay

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The chemical structure of normal human brain and Tay-Sachs gangliosides

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Isolation of a cDNA encoding the human GM2 activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular genetics of Tay-Sachs disease in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Novel Tay-Sachs disease mutations from China

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Tay-Sachs disease: B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular epidemiology of Tay-Sachs disease in Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

An A-to-G Mutation at the +3-Position of Intron-8 of the HEXA Gene Is Associated with Exon 8 Skipping and Tay-Sachs Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A null allele frequent in non-Jewish Tay-Sachs patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

W474C amino acid substitution affects early processing of the α-subunit of β-hexosaminidase A and is associated with subacute GM2 gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Sandhoff disease: 36 cases from Cordoba, Argentina

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

10.1016/S0925-4439(99)00074-5

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

143496

OpenCitations bibliographic resource ID

143496

1 reference