Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we found that pathogenic and protective mutations in arylsulfatase A (ARSA), a gene responsible for metachromatic leukodystrophy, a lysosomal storage disorder, are linked to Parkinson's disease.
|
31312839 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations.
|
31410132 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to identify the variation profile in Indian patients presenting with features of Arylsulfatase A deficient metachromatic leukodystrophy.
|
30674982 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene.
|
31186049 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In MLD mutations in the arylsulfatase A (ARSA) gene cause ARSA deficiency with subsequent accumulation of 3-sulfogalactocerebroside especially in oligodendrocytes.
|
31195190 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A.
|
31684987 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
Biomarker
|
disease |
BEFREE |
The two kinetically optimized hARSA variants showed no immunogenic potential in ERT of a humanized ARSA knockout mouse model of metachromatic leukodystrophy (MLD) and reduced lysosomal storage of kidney, peripheral and central nervous system up to 3-fold more efficiently than wild-type hARSA.
|
30657900 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Acute flaccid paralysis as the initial clinical presentation is previously known in ARSA-deficient MLD.
|
31319425 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The patient was found to be homozygous for an unusual missense mutation in the arylsulfatase A gene confirming the diagnosis of MLD.
|
30828547 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder.
|
29111560 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A.
|
31036045 |
2019 |
Leukodystrophy, Metachromatic
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
|
30057904 |
2018 |
Leukodystrophy, Metachromatic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD.
|
30083785 |
2018 |
Leukodystrophy, Metachromatic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Background Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of the enzyme arylsulfatase A (ARSA).
|
30052522 |
2018 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Biochemical blood essays showed a 91% reduction in the arylsulfatase A activity and genetic analysis revealed compound heterozygous mutations of the <i>Arylsulfatase A</i> gene, enabling diagnosis of MLD.
|
30197627 |
2018 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
|
28762252 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel p.L113P mutation in a Pakistani family with late infantile MLD has a pathogenic and destructive effect on the protein structure and function of ARSA.
|
28799099 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Serial plasma samples from an MLD patient post-therapeutic bone marrow transplant proved similar to non-disease controls with C18 sulfatide concentrations below the limit of quantification, as did samples from three individuals with an arylsulfatase A pseudodeficiency - a population variant which appears deficient upon enzymatic assay, without manifestation of disease.
|
28088283 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
Biomarker
|
disease |
BEFREE |
The lysosomal storage disorder (LSD) metachromatic leukodystrophy (MLD) is caused by a deficiency of the soluble, lysosomal hydrolase arylsulfatase A (ASA).
|
28215668 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The constructs were overexpressed using retroviral gene transfer in immortalized, human multipotent mesenchymal stromal cells prepared from a patient deficient in ARSA activity (late infantile MLD).
|
28762252 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Intracerebral transplantation of hiPS-NSCs into neonatal and adult immunodeficient MLD mice stably restored ARSA activity in the whole central nervous system.
|
28191778 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
Biomarker
|
disease |
BEFREE |
MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine.
|
28670130 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
|
28667691 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.
|
28670130 |
2017 |
Leukodystrophy, Metachromatic
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
|
26890752 |
2016 |