Výsledky vyhledávání - "arylsulfatase b"

Akademický článek

Synergistic Impact of ARSB, TP53, and Maspin Gene Expressions on Survival Outcomes in Colorectal Cancer: A Comprehensive Clinicopathological Analysis

Autor: Zsolt Kovacs, Laura Banias, Eva Osvath, Simona Gurzu

Publikováno v: Applied Sciences, Vol 14, Iss 13, p 5721 (2024)

(1) Background: Colorectal cancer (CRC) remains a significant cause of morbidity and mortality worldwide, with its prognosis influenced by genetic and clinicopathological factors. This study investigates the associations between the gene expressions

Externí odkaz: https://doaj.org/article/da3d63ab054543acae964ef8ab4d386c

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Akademický článek

Optimisation of culture conditions for a producer clone coexpressing arylsulfatase B and a formylglycine-generating enzyme in order to increase the yield of arylsulfatase B

Autor: S. S. Timonova, K. A. Smolova, I. A. Kirik, M. S. Pantyushenko, R. L. Anisimov, R. A. Khamitov, A. A. Piskunov, V. N. Bade

Publikováno v: Биопрепараты: Профилактика, диагностика, лечение, Vol 22, Iss 3, Pp 279-292 (2022)

Maroteaux—Lamy syndrome (mucopolysaccharidosis type VI) is an orphan genetic disease caused by mutations in the arylsulfatase B gene (ARSB), which encodes the lysosomal enzyme arylsulfatase B (ASB). The relevance of the study lies in the need of a

Externí odkaz: https://doaj.org/article/0b30e05b6856405db940aee08bf4c2fd

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Akademický článek

Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis

Autor: Alfredo Uribe‐Ardila, Johana Ramirez‐Borda, Adis Ayala

Publikováno v: JIMD Reports, Vol 63, Iss 5, Pp 475-483 (2022)

Abstract Mucopolysaccharidoses (MPSs) are a group of genetic alterations whose effect is the progressive intralysosomal accumulation of glycosaminoglycans. Affected individuals are deficient in one or more lysosomal enzymes which, depending on the MP

Externí odkaz: https://doaj.org/article/3b560e6456354b84a10103c99b5cabd5

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Akademický článek

Increasing productivity of arylsulfatase B-producing cell line by coexpression of formylglycine-generating enzyme

Autor: S. S. Timonova, K. A. Smolova, D. T. Zaripova, M. S. Pantyushenko, M. A. Koroleva, R. L. Anisimov, R. A. Khamitov, A. A. Piskunov, V. N. Bade

Publikováno v: Биопрепараты: Профилактика, диагностика, лечение, Vol 22, Iss 1, Pp 80-93 (2022)

Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome) is an orphan genetic disease caused by deficiency of the lysosomal enzyme arylsulfatase B (ASB). The need to develop a highly productive cell line for the production of recombinant ASB, is beh

Externí odkaz: https://doaj.org/article/58915adae86c4684bea3a680aa9abe9c

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Akademický článek

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

Autor: Isadora Andrade, River Ribeiro, Zumira A. Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Daniel Grinberg, Lluïsa Vilageliu, Charles M. Lourenco

Publikováno v: Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)

Abstract Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) en

Externí odkaz: https://doaj.org/article/6ddbc9dc239d45769128ef2220eba000

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Akademický článek

Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in

Autor: Kosuke Hosoba

Publikováno v: Biochemistry and Biophysics Reports, Vol 31, Iss , Pp 101321- (2022)

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a mutation in the ARSB gene, which encodes arylsulfatase B (ARSB), and is characterized by glycosaminoglycan accumulation. Some pathogenic mutations have be

Externí odkaz: https://doaj.org/article/da30ed2da09341a3af9b01a117961d4c

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Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene

Autor: Nahid Al Dhahouri, Amanat Ali, Jozef Hertecant, Fatma Al-Jasmi

Publikováno v: Frontiers in Pediatrics, Vol 9 (2022)

Arylsulfatase B is an enzyme present in the lysosomes that involves in the breakdown of large sugar molecules known as glycosaminoglycans (GAGs). Arylsulfatase B chemically modifies two GAGs, namely, dermatan sulfate and chondroitin sulfate, by remov

Externí odkaz: https://doaj.org/article/972ff77d766241db8d366e75205d5705

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