|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Lysosomal acid lipase (LAL) activity was measured using a new fluorometric assay in cultured skin fibroblasts from eight control subjects, two obligate heterozygotes for Wolman's disease (WD), one patient with WD, and one patient with cholesteryl ester storage disease (CESD).
|
10546 |
1976 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus, this similar deficiency demonstrates that, in lymphoid cell lines, triolein and cholesteryl esters are hydrolysed (under the conditions used here) by a single enzyme, i.e., lysosomal acid lipase muted in Wolman's disease.
|
6329310 |
1984 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800).
|
2633108 |
1990 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Permeability of gentamicin and polymyxin B into the inside of Bacillus subtilis spores.
|
2129132 |
1990 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In summary, the data presented provide evidence that deletion of the codons for amino acids 254-277 in the LAL mRNA in combination with a null allele cause the clinical expression of CESD in our patient.
|
8254026 |
1993 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
In summary, the data presented provide evidence that deletion of the codons for amino acids 254-277 in the LAL mRNA in combination with a null allele cause the clinical expression of CESD in our patient.
|
8254026 |
1993 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In summary, the data presented provide evidence that deletion of the codons for amino acids 254-277 in the LAL mRNA in combination with a null allele cause the clinical expression of CESD in our patient.
|
8254026 |
1993 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
|
7833918 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
|
7833918 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD.
|
7773732 |
1995 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In this study, we cloned rat LAL (RLAL) cDNA and investigated abnormal LAL gene expression in the Wolman rat.
|
8576647 |
1995 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
|
7759067 |
1995 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.
|
7499245 |
1995 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.
|
8598644 |
1995 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
|
7759067 |
1995 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.
|
7499245 |
1995 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.
|
7751811 |
1995 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13).
|
8598644 |
1995 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
|
8894696 |
1996 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the exon 8/intron 8 transition of the LAL gene have been identified in several CESD and WD patients and are responsible for the manifestation of the disease.
|
8864960 |
1996 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
|
8617513 |
1996 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
|
8617513 |
1996 |