| Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy. | Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy.
Mir YR, Agrahari AK, Hassan A, Choudhary A, Asthana S, Taneja AK, Nawaz S, Ilyas M, Scotti C, Kuchay RAH. | 12/29/2023 |
| Association of Rare Variants in ARSA with Parkinson's Disease. | Association of Rare Variants in ARSA with Parkinson's Disease.
Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Trempe JF, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z., | 11/1/2023 |
| Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. | Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Abtahi R, Karimzadeh P, Rezayi A, Salehpour S, Akbarzadeh D, Tonekaboni SH, Emameh RZ, Houshmand M. | 04/9/2022 |
| Evaluating the role of ARSA in Chinese patients with Parkinson's disease. | Evaluating the role of ARSA in Chinese patients with Parkinson's disease.
Pan HX, Wang YG, Zhao YW, Zeng Q, Wang Z, Fang ZH, Zhang Y, Zhou X, He RC, Xu Q, Sun QY, Tan JQ, Yan XX, Li JC, Tang BS, Guo JF. | 02/19/2022 |
| Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation Using Field Emission Scanning Electron Microscopy (FE-SEM). | Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation Using Field Emission Scanning Electron Microscopy (FE-SEM).
Gómez-Torres MJ, Huerta-Retamal N, Robles-Gómez L, Sáez-Espinosa P, Aizpurua J, Avilés M, Romero A., Free PMC Article | 10/16/2021 |
| Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. | Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
Wu S, Hou M, Zhang Y, Song J, Guo Y, Liu P, Liu Y, Yi L, Pan X, We W, Chen Z. | 10/9/2021 |
| Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial. | Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.
Í Dali C, Sevin C, Krägeloh-Mann I, Giugliani R, Sakai N, Wu J, Wasilewski M. | 07/3/2021 |
| Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity. | Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
Mahdieh N, Sharifi A, Rabbani A, Ashrafi M, Tavasoli AR, Badv RS, Bonkowsky JL, Rabbani B. | 06/26/2021 |
| Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients. | Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Beerepoot S, van Dooren SJM, Salomons GS, Boelens JJ, Jacobs EH, van der Knaap MS, van Kuilenburg ABP, Wolf NI., Free PMC Article | 06/19/2021 |
| Genetic analysis of arylsulfatase A (ARSA) in Chinese patients with Parkinson's disease. | Genetic analysis of arylsulfatase A (ARSA) in Chinese patients with Parkinson's disease.
Ruan Y, Zheng R, Lin ZH, Gao T, Xue NJ, Cao J, Tian J, Zhang BR, Pu JL. | 05/15/2021 |
| Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis. | Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.
Juárez-Osuna JA, Mendoza-Ruvalcaba SC, Porras-Dorantes A, Da Silva-José TD, García-Ortiz JE., Free PMC Article | 05/15/2021 |
| The expression of serum DRAM1 messenger RNA (mRNA), ARSA mRNA, hsa-miR-2053 and lncRNA-RP1-86D1.3 were positive in 78.3%, 90%, 85%, and 83.3% of MPM patients, respectively. | Clinical significance of serum DRAM1 mRNA, ARSA mRNA, hsa-miR-2053 and lncRNA-RP1-86D1.3 axis expression in malignant pleural mesothelioma.
Matboli M, Shafei AE, Ali MA, Gaber AI, Galal A, Tarek O, Marei M, Khairy E, El-Khazragy N, Anber N, Abdel-Rahman O. | 06/27/2020 |
| Plasma ARSA protein levels were changed in Parkinson's disease patients. ARSA inhibited the in vitro fibrillation of alpha-synuclein in a dose-dependent manner. Ectopic expression of ARSA reversed the alpha-synuclein phenotypes in both cell and fly models of synucleinopathy, the effects correlating with the extent of the physical interaction between these molecules. ARSA is a molecular chaperone for alpha-synuclein. | Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone.
Lee JS, Kanai K, Suzuki M, Kim WS, Yoo HS, Fu Y, Kim DK, Jung BC, Choi M, Oh KW, Li Y, Nakatani M, Nakazato T, Sekimoto S, Funayama M, Yoshino H, Kubo SI, Nishioka K, Sakai R, Ueyama M, Mochizuki H, Lee HJ, Sardi SP, Halliday GM, Nagai Y, Lee PH, Hattori N, Lee SJ. | 05/16/2020 |
| Three novel arylsulfatase A (ARSA) gene mutations p.Asp281Asn, p.Asp283Asn and p.Ala344Asp were described from Sri Lankan patients with metachromatic leukodystrophy (MLD). | Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Hettiarachchi D, Dissanayake VHW., Free PMC Article | 04/4/2020 |
| Due to their safety profile and higher therapeutic potential the engineered hARSA variants might represent major advances for future enzyme-based therapies of metachromatic leukodystrophy and stimulate analogous approaches for other enzyme therapeutics | Evolutionary redesign of the lysosomal enzyme arylsulfatase A increases efficacy of enzyme replacement therapy for metachromatic leukodystrophy.
Simonis H, Yaghootfam C, Sylvester M, Gieselmann V, Matzner U. | 02/8/2020 |
| The proband with late infantile metachromatic leukodystrophy was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*)], neither of which was reported previously | [Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].
Wu R, Tang W, Li D, Tang D, Li Y, Luo X. | 01/18/2020 |
| In one case, the homozygous pathogenic variant NM_000049.2:c.914C>A;p.Ala305Glu, which is previously reported in ClinVar, in the gene ASPA was identified causing Canavan disease. In the second case, the homozygous novel variant NM_000487.5:c.256C>G;p.Arg86Gly in the gene ARSA was identified causing metachromatic leukodystrophy. | First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.
Froukh T., Free PMC Article | 06/15/2019 |
| The most common variation of ARSA was c.931 C > T(p.Arg311*), found in 11.4% (14 out of 122 alleles) of the tested individuals. To the best of our knowledge, this study is the first of its kind in India with respect to the size of the cohort and the molecular diagnostic method used and one of the largest cohorts of metachromatic leukodystrophy studied till date | Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
Narayanan DL, Matta D, Gupta N, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Datar C, Gowrishankar K, Kamate M, Jain JMN, Dalal A. | 03/16/2019 |
| A novel homozygous missense mutation c.699C>A (p.His231Gln) in exon 4 of ARSA gene was identified in the three metachromatic leukodystrophy patients inherited from their heterozygous parents. | 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.
Issa AB, Feki FK, Jdila MB, Khabou B, Rhouma BB, Ammar-Keskes L, Triki C, Fakhfakh F. | 11/10/2018 |
| 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. | Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.
Shahzad MA, Khaliq S, Amar A, Mahmood S. | 06/30/2018 |
| siblings exhibited compound heterozygous variants {[c.302G>T]+[c.1344dupC]} in the ARSA gene, and both of the variants have been reported as disease-causing mutations previouslyfa | Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.
Wang Z, Lin Y, Zheng D, Yan A, Tu X, Lin J, Lan F. | 02/4/2017 |
| First report of arylsulfatase A pseudodeficiency (ASA-PD) allele and haplotype frequencies in a North African population, reveals relatively high prevalence of the ASA-PD allele in the Tunisian population with an intermediate genetic structure between Africans, Middle-eastern and Europeans most probably linked to the particular geographic location of Tunisia and the several population incursions throughout its history | Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
Ben Halim N, Dorboz I, Kefi R, Kharrat N, Eymard-Pierre E, Nagara M, Romdhane L, Ben Alaya-Bouafif N, Rebai A, Miladi N, Boespflug-Tanguy O, Abdelhak S. | 12/17/2016 |
| an extensive review of all the ARSA-causative variants published in the literature to date, accounting for a total of 200 ARSA allele types (review) | Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, Filocamo M, Biffi A. | 12/17/2016 |
| We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings. | Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
Antelmi E, Rizzo G, Fabbri M, Capellari S, Scaglione C, Martinelli P. | 11/14/2015 |
| Data indicate a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the arylsulfatase A (ARSA) gene and the phenotype OF metachromatic leukodystrophy. | [Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].
Yang J, Cao J, Li Y, Zheng H, Li J, Liang Y, Liu Z, Wang L, Zhang C. | 02/14/2015 |