|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
|
8894696 |
1996 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of LAL in humans leads to Wolman disease and cholesteryl ester storage disease that result, respectively, in the intralysosomal storage of both neutral lipids or only cholesteryl esters.
|
8725147 |
1996 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
|
8894696 |
1996 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
We provide evidence that the strikingly more severe course of Wolman disease is caused by genetic defects of LAL that leave no residual enzyme activity.
|
8617513 |
1996 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
|
8864960 |
1996 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since the severely reduced LAL activity was seen in cells from an adult patient with a mild CESD, we conclude that there is no simple direct correlation between the LAL molecular lesions and the biochemical and clinical phenotypes.
|
9367797 |
1997 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
|
9367797 |
1997 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
|
9367797 |
1997 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The reduction of LAL activity in nine heterozygote, disease free carriers of mutations from two cholesteryl ester storage disease (CESD) pedigrees and the family of a patient with Wolman disease was associated with an increased fraction of monocytes which expressed CD56 (N-CAM) (4.1 +/- 2.7% of monocytes, compared to 2.2 +/- 0.5% in ten controls, P < 0.05), an antigen characteristic of immature myeloid cells, suggesting an increased turnover of monocytes.
|
9126667 |
1997 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that in two siblings with a novel LAL variant and mild phenotype of CESD, lovastatin decreased both serum lipid concentrations and hepatocellular lysosomal content.
|
9365051 |
1997 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
|
9684740 |
1998 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
|
9684740 |
1998 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
|
9705237 |
1998 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
MGD |
Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
|
9700186 |
1998 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
|
9554751 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By transient transfection of hybrid minigene constructs, the CESD G-->A (-1) substitution resulted in partial exon inclusion, thus allowing the production of a small amount of normal LAL mRNA and hence of a functional enzyme.
|
9684740 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
|
9554751 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first description of two different, naturally occurring mutations involving the same amino acid residue in the lysosomal acid lipase in unrelated CESD patients.
|
9633819 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Moreover, our results demonstrate that the variable manifestation of CESD can be explained by mutation-dependent, variable inactivation of the LAL enzyme.
|
9633819 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
|
10562460 |
1999 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
|
10562460 |
1999 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.
|
10551400 |
1999 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.
|
10627498 |
2000 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase.
|
10627498 |
2000 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
MGD |
Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span.
|
11290820 |
2001 |