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Page 1
Mucopolysaccharidosis VI: Therapeutic strategies and perspectives.
Leal AF, Prieto LE, Pachajoa H, Tomatsu S. Leal AF, et al. Mol Genet Metab. 2025 Nov;146(3):109255. doi: 10.1016/j.ymgme.2025.109255. Epub 2025 Oct 7. Mol Genet Metab. 2025. PMID: 41066830 Review.
Mucopolysaccharidosis VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder (LSD) caused by pathogenic mutations in the ARSB gene, resulting in arylsulfatase (ARSB) deficiency and the lysosomal accumulation of dermatan sulfate (DS) and chondroit …
Mucopolysaccharidosis VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder (LSD) caused by pathogenic mutations in the …
Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review).
Chen J, Ying Y, Li H, Sha Z, Lin J, Wu Y, Wu Y, Zhang Y, Chen X, Zhang W. Chen J, et al. Mol Med Rep. 2024 Sep;30(3):168. doi: 10.3892/mmr.2024.13292. Epub 2024 Jul 19. Mol Med Rep. 2024. PMID: 39027997 Free PMC article. Review.
Among these conditions, the following disorders arise due to genetic mutations that disrupt DFCs and impede proper tooth eruption: Cleidocranial dysplasia associated with Runt-related gene 2 gene mutations; osteosclerosis caused by CLCN7 gene mutations; mucopolysaccharidosis type …
Among these conditions, the following disorders arise due to genetic mutations that disrupt DFCs and impede proper tooth eruption: Cleidocra …
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ. Tomanin R, et al. Hum Mutat. 2018 Dec;39(12):1788-1802. doi: 10.1002/humu.23613. Epub 2018 Sep 17. Hum Mutat. 2018. PMID: 30118150 Free PMC article. Review.
Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme. Detection of ARSB pathogenic …
Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, common …
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P, Shediac R. Harmatz P, et al. Front Biosci (Landmark Ed). 2017 Jan 1;22(3):385-406. doi: 10.2741/4490. Front Biosci (Landmark Ed). 2017. PMID: 27814620 Free article. Review.
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to …
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient acti …
N-Acetylgalactosamine-4-sulfatase (Arylsulfatase B) Regulates PD-L1 Expression in Melanoma by an HDAC3-Mediated Epigenetic Mechanism.
Bhattacharyya S, O-Sullivan I, Tobacman JK. Bhattacharyya S, et al. Int J Mol Sci. 2024 May 28;25(11):5851. doi: 10.3390/ijms25115851. Int J Mol Sci. 2024. PMID: 38892038 Free PMC article.
The effects of the enzyme N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB), which removes the 4-sulfate group at the non-reducing end of chondroitin 4-sulfate, on the expression of PD-L1 were determined, and the underlying …
The effects of the enzyme N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB), which …
Genetic and environmental factors driving congenital solitary functioning kidney.
Groen In 't Woud S, van Gelder MMHJ, van Rooij IALM, Feitz WFJ, Roeleveld N, Schreuder MF, van der Zanden LFM; SOFIA study group. Groen In 't Woud S, et al. Nephrol Dial Transplant. 2024 Feb 28;39(3):463-472. doi: 10.1093/ndt/gfad202. Nephrol Dial Transplant. 2024. PMID: 37738450 Free PMC article.
The interaction between maternal overweight and this SNV, which results in lower expression of the Arylsulfatase B (ARSB) gene, could be explained by lower insulin receptor activity in children heterozygous for rs3098698. ...
The interaction between maternal overweight and this SNV, which results in lower expression of the Arylsulfatase B (ARSB …
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA, Suspitsin EN, Imyanitov EN. Yanus GA, et al. Int J Mol Sci. 2024 Aug 28;25(17):9335. doi: 10.3390/ijms25179335. Int J Mol Sci. 2024. PMID: 39273284 Free PMC article. Review.
Along with pan-European pathogenic variants with clearly elevated occurrence in Slavic people (e.g., ATP7B c.3207C>A and PAH c.1222C>T), there are at least 52 pan-Slavic germ-line mutations (e.g., NBN c.657_661del and BRCA1 c.5266dupC) as well as several disease-predisposin …
Along with pan-European pathogenic variants with clearly elevated occurrence in Slavic people (e.g., ATP7B c.3207C>A and PAH c.1222C>T …
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.
Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A, Brunetti-Pierri N. Rossi A, et al. Med. 2025 Apr 11;6(4):100544. doi: 10.1016/j.medj.2024.10.021. Epub 2024 Nov 14. Med. 2025. PMID: 39547230 Clinical Trial.
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is due to a deficiency of the lysosomal enzyme arylsulfatase B (ARSB) that results in multi-organ accumulation of glycosaminoglycans (GAGs). ...In one of the four patients, ERT was restarted because of elevat …
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is due to a deficiency of the lysosomal enzyme arylsulfatase B (ARSB …
Prognostic modeling of early-onset nondistal gastric cancer identifies ARSB-PDCD1 ratio as an immune-related survival stratifier.
Zhang Z, Zhong X, Jin Q, Chen Z, Yang Y, Jiang Y, Zhou H, An C, Zhang J, He Y, Fu Z, Wu K, Li N. Zhang Z, et al. Front Immunol. 2025 Sep 29;16:1655106. doi: 10.3389/fimmu.2025.1655106. eCollection 2025. Front Immunol. 2025. PMID: 41089703 Free PMC article.
In parallel, MGC-803 and AGS cells were transiently transfected to overexpress ARSB; RT-qPCR verification, scratch and transwell migration assays quantified motility. ...Furthermore, a higher ARSB/PDCD1 ratio (APR) was associated with poorer overall survival (P = 0. …
In parallel, MGC-803 and AGS cells were transiently transfected to overexpress ARSB; RT-qPCR verification, scratch and transwell migr …
Genetic predisposition to differentiated thyroid cancer in the Polish population.
Borowczyk M, Sypniewski M, Szyda J, Braszka M, Ziemnicka K, Ruchała M, Oszywa M, Król ZJ, Dobosz P. Borowczyk M, et al. Pol Arch Intern Med. 2024 Mar 27;134(3):16654. doi: 10.20452/pamw.16654. Epub 2024 Jan 2. Pol Arch Intern Med. 2024. PMID: 38165228 Free article.
Significant differences in variant frequency were found for the APC, ARSB, ATM, BRCA1, CHEK2, DICER1, GPD1L, INSR, KCNJ10, MYH9, PALB2, PLCB1, PLEKHG5, PTEN, RET, SEC23B, SERPINA1, SLC26A4, SMAD3, STK11, TERT, TOE1, and WRN genes. ...
Significant differences in variant frequency were found for the APC, ARSB, ATM, BRCA1, CHEK2, DICER1, GPD1L, INSR, KCNJ10, MYH9, PALB …
52 results