Výsledky vyhledávání - "mucolipidosis II"

Akademický článek

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts

Autor: Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz

Publikováno v: Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2023)

Abstract Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1-phosphotransferase. This enzyme adds mannose 6-phosphate residues to lysosoma

Externí odkaz: https://doaj.org/article/76bbbfa40fd94683a879fe85938c90a3

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Akademický článek

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Akademický článek

A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients

Autor: Nataniel F Ludwig, Fernanda Sperb-Ludwig, Dévora N Randon, Pricila Bernardi, Liane R Giuliani, Carolina A Moreno, Denise P Cavalcanti, Luiz CS da Silva, Ida V D Schwartz

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

Abstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by the GNPTG gene. Pathogenic variants identified in the GNPTAB gene cause the diseases Mu

Externí odkaz: https://doaj.org/article/9cd428fcb85c4b70b77dc6bccf2dc9e5

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Akademický článek

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

Autor: Agnieszka Ługowska, Galina Baydakova, Alex Ilyushkina, Ekaterina Zakharova, Hanna Mierzewska, Krystyna Szymańska, Jolanta Wierzba, Jolanta Kubalska, Ałła Graban, Tomasz Kmieć, Barbara Perkowska-Sumiła, Anna Tylki-Szymańska, Małgorzata Bednarska-Makaruk

Publikováno v: Diagnostics, Vol 11, Iss 2, p 320 (2021)

Increased activity of dipeptidyl peptidase IV (DPP-IV) was reported earlier in patients with different types of mucopolysaccharidoses. DPP-IV (also known as CD26 lymphocyte T surface antigen) is a transmembrane protein showing protease activity. This

Externí odkaz: https://doaj.org/article/e50ce5218c0644baaf48e583eb8bd269

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Akademický článek

Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells

Autor: Jarrod W. Barnes, Megan Aarnio-Peterson, Joy Norris, Mark Haskins, Heather Flanagan-Steet, Richard Steet

Publikováno v: Biomolecules, Vol 10, Iss 5, p 670 (2020)

Mucolipidosis II (ML-II) is a lysosomal disease caused by defects in the carbohydrate-dependent sorting of soluble hydrolases to lysosomes. Altered growth factor signaling has been identified as a contributor to the phenotypes associated with ML-II a

Externí odkaz: https://doaj.org/article/ad93abfdaa7c4131a517eaeffd84ef8e

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Akademický článek

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Autor: F. Sperb-Ludwig, T. Alegra, R.V. Velho, N. Ludwig, C.A. Kim, F. Kok, J.P. Kitajima, E. van Meel, S. Kornfeld, M.G. Burin, I.V.D. Schwartz

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 34-37 (2015)

Mucolipidosis II and III alpha/beta (ML II/III alpha/beta) are rare autosomal recessive lysosomal storage diseases that are caused by a deficiency of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme responsible for the

Externí odkaz: https://doaj.org/article/9652d90856f74d1c870f254de217ffb9

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Akademický článek

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

Autor: Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb, Nataniel Floriano Ludwig, Maria Luiza Saraiva-Pereira, Ursula Matte, Ida V.D. Schwartz

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 98-102 (2014)

Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene. The present study consists of a report of a B

Externí odkaz: https://doaj.org/article/f50e769dde1f47169cb068241e1b05fa

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Akademický článek

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Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

Autor: Katrin Kollmann, Jan Malte Pestka, Sonja Christin Kühn, Elisabeth Schöne, Michaela Schweizer, Kathrin Karkmann, Takanobu Otomo, Philip Catala‐Lehnen, Antonio Virgilio Failla, Robert Percy Marshall, Matthias Krause, Rene Santer, Michael Amling, Thomas Braulke, Thorsten Schinke

Publikováno v: EMBO Molecular Medicine, Vol 5, Iss 12, Pp 1871-1886 (2013)

Abstract Mucolipidosis type II (MLII) is a severe multi‐systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules. Although affected children develop disabling skeletal ab

Externí odkaz: https://doaj.org/article/0221b86517e749d69825ca9647adadc6

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