Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.
about
A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstableThe molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related familiesNiemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patientsA second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimationTay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidaseNovel patient cell-based HTS assay for identification of small molecules for a lysosomal storage diseaseToxicity from different SOD1 mutants dysregulates the complement system and the neuronal regenerative response in ALS motor neurons.Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficitsUpregulation of the genes encoding lysosomal hydrolases, a perforin-like protein, and peroxidases in the brains of mice affected with an experimental prion diseaseAn ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three familiesLysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programA new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)Spectrum of mutations in aspartylglucosaminuria.Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish populationTreatment of HL-60 cells with dimethyl sulphoxide inhibits the formation of beta-N-acetylhexosaminidase SAlterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease.Renal markers for assessment of renal tubular and glomerular dysfunction.
P2860
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P2860
Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.
@en
type
label
Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.
@en
prefLabel
Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.
@en
P1476
Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.
@en
P2093
Neufeld EF
P304
10927-10930
P407
P577
1989-07-01T00:00:00Z