Condition: Leukodystrophy, Metachromatic


rs1057516288 in ARSA gene and Leukodystrophy, Metachromatic PMID 14517960 2003 Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).

PMID 26462614 2016 Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

PMID 26131420 2015 Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.

PMID 23208745 2013 Complete mapping of a cystine knot and nested disulfides of recombinant human arylsulfatase A by multi-enzyme digestion and LC-MS analysis using CID and ETD.

PMID 12809638 2003 Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele.

PMID 17560502 2007 ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.

PMID 11020646 2000 Variable onset of metachromatic leukodystrophy in a Vietnamese family.

PMID 26553228 2015 Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

PMID 25965562 2015 Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.

PMID 28762252 2017 Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

PMID 9819708 1998 Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.

PMID 11013459 2000 Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.

PMID 10751093 2000 Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.

PMID 18786133 2008 Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.

PMID 15720392 2005 Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.

PMID 15326627 2004 Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.

PMID 10477432 1999 Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.

PMID 23559313 2013 An Italian cohort study identifies four new pathologic mutations in the ARSA gene.

PMID 16678723 2006 Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.

PMID 7866401 1994 Molecular genetics of metachromatic leukodystrophy.

PMID 19815439 2010 Biochemical profiling to predict disease severity in metachromatic leukodystrophy.

PMID 12809637 2003 Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.

PMID 15139291 2004 Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.

PMID 9090526 1997 Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.

PMID 22993277 2012 Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.

PMID 21167507 2011 Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.

PMID 7581401 1995 Identification of seven novel mutations associated with metachromatic leukodystrophy.

PMID 28667691 2017 Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.

PMID 16546179 2006 Understanding mutations and protein stability through tripeptides.

PMID 24001781 2013 Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.

PMID 14680985 2003 Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.

PMID 23701968 2013 Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.

PMID 11777924 2002 Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy.

PMID 9096767 1997 Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.

PMID 20339381 2010 Molecular bases of metachromatic leukodystrophy in Polish patients.

PMID 11941485 2002 We identified a late infantile metachromatic leukodystrophy patient carrying on one allele the new E253K mutation and the known T391S polymorphism, and on the other allele the common P426L mutation, usually associated with the adult or juvenile form of the disease, and the N350S and *96A>G pseudodeficiency mutations.

PMID 1670590 1991 Molecular basis of different forms of metachromatic leukodystrophy.

PMID 9090526 1997 Genomic DNA from 21 MLD patients (14 late-infantile and 7 juvenile cases) was amplified in four overlapping PCR fragments and tested by allele-specific oligonucleotide (ASO) for the two common mutations 459 + 1G-->A and P426L.

PMID 8095918 1993 Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.

PMID 12035837 2002 Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.

PMID 11061266 2000 Adult-onset MLD: a gene mutation with isolated polyneuropathy.

PMID 30057904 2018 Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.

PMID 21265945 2011 Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.

PMID 20890085 2010 Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.

PMID 1673291 1991 In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.

PMID 8455580 1993 Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.

PMID 10459747 1999 Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia.

PMID 7649558 1995 Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.

PMID 1678251 1991 Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

PMID 1684088 1991 Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

PMID 9600244 1998 Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.

PMID 12081727 2002 High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy.

PMID 15952986 2005 Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.

PMID 18693274 2008 Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.

PMID 26890752 2016 Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.

PMID 1353340 1992 Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.

PMID 8101038 1993 High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

PMID 9192271 1997 Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.

PMID 7906588 1993 Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.

PMID 16966551 2006 Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.

PMID 22216298 2011 Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.

PMID 8101083 1993 Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.

PMID 28670130 2017 Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.

PMID 8723680 1996 Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.

PMID 20646068 2010 Misfolded endoplasmic reticulum retained subunits cause degradation of wild-type subunits of arylsulfatase A heteromers.

PMID 1975241 1990 Structure of the arylsulfatase A gene.

PMID 7815434 1994 A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

PMID 8104633 1993 Analysis of a further 29 MLD patients revealed the presence of five additional homozygotes for T274M.

PMID 7825603 1995 Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

PMID 20339381 2010 Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.

PMID 20339381 2010 Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.

PMID 23581857 2014 Effects of glycosylation and pH conditions in the dynamics of human arylsulfatase A.

PMID 10381328 1999 Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.

PMID 12086582 2002 The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.

PMID 27261095 2016 Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

PMID 15375602 2004 ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.

PMID 19021637 2009 Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.

PMID 20339381 2010 Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.

PMID 11941485 2002 We identified a late infantile metachromatic leukodystrophy patient carrying on one allele the new E253K mutation and the known T391S polymorphism, and on the other allele the common P426L mutation, usually associated with the adult or juvenile form of the disease, and the N350S and *96A>G pseudodeficiency mutations.

PMID 10220151 1999 Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.

PMID 27374302 2016 Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.

PMID 9490297 1998 A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.

PMID 17438611 2007 Gene symbol: ARSA.

PMID 11456299 2001 Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.

PMID 8962139 1996 Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy.

PMID 12445909 2003 Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?

PMID 8982952 1996 A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.

PMID 1284530 1992 A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.

rs118203941 in ARSB gene and Leukodystrophy, Metachromatic PMID 17458871 2007 Mutational analysis of 105 mucopolysaccharidosis type VI patients.

PMID 1550123 1992 Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

PMID 8116615 1994 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

PMID 21514195 2011 Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.

PMID 23557332 2013 Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

PMID 8723688 1996 Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.

PMID 16435196 2005 Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.