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1,134 results

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Page 1
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. Cesani M, et al. Hum Mutat. 2016 Jan;37(1):16-27. doi: 10.1002/humu.22919. Epub 2015 Nov 4. Hum Mutat. 2016. PMID: 26462614 Review.
In this Mutation Update, an extensive review of all the ARSA- and PSAP-causative variants published in the literature to date, accounting for a total of 200 ARSA and 10 PSAP allele types, is presented. The detailed ARSA and PSAP variant lists are freely avail …
In this Mutation Update, an extensive review of all the ARSA- and PSAP-causative variants published in the literature to date, accoun …
Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches.
Shaimardanova AA, Chulpanova DS, Solovyeva VV, Mullagulova AI, Kitaeva KV, Allegrucci C, Rizvanov AA. Shaimardanova AA, et al. Front Med (Lausanne). 2020 Oct 20;7:576221. doi: 10.3389/fmed.2020.576221. eCollection 2020. Front Med (Lausanne). 2020. PMID: 33195324 Free PMC article. Review.
The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB) and it clinically manifests as progressive motor and cognitive deficiency. ARSA and SapB protein deficiency are caused by mutations i …
The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB) …
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. Pan HX, et al. Neurobiol Aging. 2022 Jan;109:269-272. doi: 10.1016/j.neurobiolaging.2021.08.008. Epub 2021 Aug 21. Neurobiol Aging. 2022. PMID: 34531044
To elucidate the role of ARSA variants in PD, we did a comprehensive analysis of ARSA variants by performing next-generation sequencing on 477 PD families, 1440 sporadic early-onset PD patients and 1962 sporadic late-onset PD patients and 2636 controls from Chinese …
To elucidate the role of ARSA variants in PD, we did a comprehensive analysis of ARSA variants by performing next-generation s …
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, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z. Senkevich K, et al. medRxiv [Preprint]. 2023 Mar 13:2023.03.08.23286773. doi: 10.1101/2023.03.08.23286773. medRxiv. 2023. Update in: Mov Disord. 2023 Oct;38(10):1806-1812. doi: 10.1002/mds.29521. PMID: 36993451 Free PMC article. Updated. Preprint.
BACKGROUND: Several lysosomal genes are associated with Parkinson's disease (PD), yet the association between PD and ARSA , which encodes for the enzyme arylsulfatase A, remains controversial. OBJECTIVES: To evaluate the association between rare ARSA variants and PD …
BACKGROUND: Several lysosomal genes are associated with Parkinson's disease (PD), yet the association between PD and ARSA , which enc …
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT. Trinidad M, et al. Genome Biol. 2023 Jul 21;24(1):172. doi: 10.1186/s13059-023-03001-z. Genome Biol. 2023. PMID: 37480112 Free PMC article.
BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes according to age of onset. The functional effect of most ARSA mutants remains unknown; better un …
BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) …
Mechanism of the ArsA ATPase.
Rosen BP, Bhattacharjee H, Zhou T, Walmsley AR. Rosen BP, et al. Biochim Biophys Acta. 1999 Dec 6;1461(2):207-15. doi: 10.1016/s0005-2736(99)00159-5. Biochim Biophys Acta. 1999. PMID: 10581357 Free article. Review.
The ArsAB pump is composed of a membrane subunit that has two groups of six transmembrane segments, and the catalytic subunit, the ArsA ATPase. As is the case with many ABC transporters, ArsA has an internal repeat, each with an ATP binding domain, and is allosteric …
The ArsAB pump is composed of a membrane subunit that has two groups of six transmembrane segments, and the catalytic subunit, the ArsA …
Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy.
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C. Ramachandran S, et al. J Clin Invest. 2025 Jun 19;135(16):e185001. doi: 10.1172/JCI185001. eCollection 2025 Aug 15. J Clin Invest. 2025. PMID: 40536808 Free PMC article.
Lastly, we demonstrate that treatment with AAV.GMU01-ARSA in NHPs is well tolerated and results in potentially therapeutic ARSA expression in the brain. In summary, we propose AAV.GMU01-ARSA-mediated gene replacement as a clinically viable approach to achieve …
Lastly, we demonstrate that treatment with AAV.GMU01-ARSA in NHPs is well tolerated and results in potentially therapeutic ARSA …
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. Ruan Y, et al. Neurosci Lett. 2020 Aug 24;734:135094. doi: 10.1016/j.neulet.2020.135094. Epub 2020 May 26. Neurosci Lett. 2020. PMID: 32470555
And the variant c.1055A > G (p.N352S) of ARSA was reported as a risk reduction factor for PD in a Japanese population. To further investigate the relationship between ARSA and PD, we screened these two loci of the ARSA gene in 407 sporadic PD patients and …
And the variant c.1055A > G (p.N352S) of ARSA was reported as a risk reduction factor for PD in a Japanese population. To further …
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A. Fumagalli F, et al. Lancet. 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. Lancet. 2022. PMID: 35065785 Free PMC article. Clinical Trial.
After busulfan conditioning, all arsa-cel treated patients showed sustained multilineage engraftment of genetically modified HSPCs. ...All patients had at least one grade 3 or higher adverse event; most were related to conditioning or to background disease. The only advers …
After busulfan conditioning, all arsa-cel treated patients showed sustained multilineage engraftment of genetically modified HSPCs. . …
Stiba-, Arsa- and Phosphastannenes: Syntheses and Reactivities.
Zweigart M, Wenzel C, Eichele K, Schubert H, Wesemann L. Zweigart M, et al. Angew Chem Int Ed Engl. 2023 Jun 26;62(26):e202304200. doi: 10.1002/anie.202304200. Epub 2023 May 15. Angew Chem Int Ed Engl. 2023. PMID: 37186011
A facile synthesis for unprecedented stibastannene (10) featuring a Sn=Sb-double bond together with the homologous arsa- (9) and phosphastannenes (8) is presented. Chloride abstraction from respective stannyl pnictinidenes [E=P (5), As (6), Sb (7)], which were made accessi …
A facile synthesis for unprecedented stibastannene (10) featuring a Sn=Sb-double bond together with the homologous arsa- (9) and phos …
1,134 results