Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We report on two novel variants in the PSAP gene - c.679_681delAAG in the saposin B encoding exon 6 and c.1268delT in the saposin D encoding exon 11 in a patient with MLD.
|
30632081 |
2019 |
Leukodystrophy, Metachromatic
|
0.300 |
Biomarker
|
disease |
BEFREE |
Hence, a final diagnosis of saposin B-deficient MLD was established.
|
31319425 |
2019 |
Leukodystrophy, Metachromatic
|
0.300 |
Biomarker
|
disease |
BEFREE |
Deficiency of SapB leads to fatal activator-deficient metachromatic leukodystrophy.
|
29104953 |
2017 |
Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
|
26462614 |
2016 |
Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
|
24478108 |
2014 |
Leukodystrophy, Metachromatic
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Metachromatic leukodystrophy (MLD) is a rare lysosomal disorder caused by deficient activity of arylsulfatase A or the lack of saposin B, which results in the accumulation of sulfatide in the oligodendrocytes and in the Schwann cells.
|
24411407 |
2014 |
Leukodystrophy, Metachromatic
|
0.300 |
Biomarker
|
disease |
MGD |
Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.
|
23446636 |
2013 |
Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
This genomic interval contains 95 known genes including the Prosaposin gene (PSAP) responsible for metachromatic leukodystrophy, which was excluded.
|
20721593 |
2011 |
Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
|
19267410 |
2009 |
Leukodystrophy, Metachromatic
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy.
|
19224915 |
2009 |
Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
|
18693274 |
2008 |
Leukodystrophy, Metachromatic
|
0.300 |
Biomarker
|
disease |
MGD |
Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.
|
18480170 |
2008 |
Leukodystrophy, Metachromatic
|
0.300 |
Biomarker
|
disease |
BEFREE |
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA) or saposin B.
|
14680985 |
2003 |
Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We identified a previously undescribed mutation (N215K) in the prosaposin gene of a patient with metachromatic leukodystrophy but with normal arylsulphatase A activity and elevated sulphatide in urine.
|
10196694 |
1999 |
Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Recently, patients have been identified who have a variant form of metachromatic leukodystrophy which is characterized by mutations in the gene coding for SAP-1, which is also called "prosaposin."
|
1350885 |
1992 |
Leukodystrophy, Metachromatic
|
0.300 |
Biomarker
|
disease |
BEFREE |
The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy.
|
2066109 |
1991 |
Leukodystrophy, Metachromatic
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
|
2302219 |
1990 |