Výsledky vyhledávání - "Karen P. Coss"

Cell function profiling to assess clone stability

Autor: Jerry Clifford, Carolanne Doherty, David C. James, Paul D. Dobson, Ben Thompson, Karen P. Coss

Publikováno v: Biotechnology and Bioengineering

In cell line development the identification of stable Chinese hamster ovary cells for production is a critical but onerous task. The stability trial focus upon high‐level attributes can mask profound underlying cellular changes, leading to unstable

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eef3f7c7cddb2506d6706866e1d2c06f
https://doi.org/10.1002/bit.27336

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Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Autor: Peter Doran, Catherine Moss, Karen P. Coss, Ina Knerr, Pauline M. Rudd, Maria Fitzgibbon, M. Estela Rubio-Gozalbo, Henning Stöckmann, Kelly Stephens, Britt van Erven, Ashwini Maratha, Patricia Foley, Eileen P. Treacy, Hugh Owen Colhoun, Terri P. McVeigh

Publikováno v: European Journal of Human Genetics, 24(7), 976-984. Nature Publishing Group

Classical galactosaemia (OMIM #230400), a rare disorder of carbohydrate metabolism, is caused by a deficient activity of galactose-1-phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long-term complications, mainly cognitive, neur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68b6af6910e792024dadca0f421f1866
https://doi.org/10.1038/ejhg.2015.254

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Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study

Autor: Henning Stöckmann, Peter Doran, Anne Clark, Karen P. Coss, Yoon S. Shin, Jürgen Kratzsch, Eileen P. Treacy, Ellen Crushell, Ina Knerr, Pauline M. Rudd

Publikováno v: Pediatric Research. 78:272-279

Classical galactosemia is caused by severe galactose-1-phosphate uridyltransferase deficiency. Despite life-long galactose-restriction, many patients experience long-term complications. Intoxication by galactose and its metabolites as well as over-re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e411bea7acf68dea57ebdc5a9c2f47
https://doi.org/10.1038/pr.2015.107

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Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

Autor: Y.S. Shin, Ina Knerr, David W. Murray, Eoin J. Cotter, Peter Doran, Karen P. Coss, Eileen P. Treacy

Publikováno v: Molecular Genetics and Metabolism. 113:177-187

Classical Galactosaemia is a rare disorder of carbohydrate metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). The disease is life-threatening in the neonate, and the only treatment option is life-long dietary restric

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69e533da364dce84800f66a11e5033cb
https://doi.org/10.1016/j.ymgme.2014.08.004

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HIV-1 Glycan Density Drives the Persistence of the Mannose Patch within an Infected Individual

Autor: Karen P, Coss, Snezana, Vasiljevic, Laura K, Pritchard, Stefanie A, Krumm, Molly, Glaze, Sharon, Madzorera, Penny L, Moore, Max, Crispin, Katie J, Doores

Publikováno v: Journal of Virology

The HIV envelope glycoprotein (Env) is extensively modified with host-derived N-linked glycans. The high density of glycosylation on the viral spike limits enzymatic processing, resulting in numerous underprocessed oligomannose-type glycans. This ext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8242a1fd64dd49c44921ad7870dcf039
https://pubmed.ncbi.nlm.nih.gov/27707925

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Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

Autor: Peter Doran, Ashwini Maratha, Karen P. Coss, Ina Knerr, Hugh Owen Colhoun, Eileen P. Treacy

Publikováno v: JIMD Reports ISBN: 9783662555859

Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment op

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314ecac03a9b138a413ea204db0f5772
https://doi.org/10.1007/8904_2016_5

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IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia

Autor: Radka Saldova, Eileen P. Treacy, Pauline M. Rudd, C. Carolan, A.Y. Brown, Una Hendroff, Barbara Adamczyk, Jodie L. Abrahams, O. Walsh, Karen P. Coss, Dave Coman, J.C. Byrne

Publikováno v: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism; Vol 105

N-glycan processing and assembly defects have been demonstrated in untreated and partially treated patients with Classical Galactosaemia. These defects may contribute to the ongoing pathophysiology of this disease. The aim of this study was to develo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92eaefb0dfd064119bc1e60e212777c

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N-glycan abnormalities in children with galactosemia

Autor: Pauline M. Rudd, Radka Saldova, A A Monavari, Eileen P. Treacy, Barbara Adamczyk, Ellen Crushell, Henning Stöckmann, Colin P. Hawkes, Ina Knerr, M. E. Rubio-Gozalbo, Karen P. Coss

Publikováno v: Journal of Proteome Research; Vol 13
Journal of Proteome Research
Journal of Proteome Research, 13(2), 385-394. American Chemical Society

Galactose intoxication and over-restriction in galactosemia may affect glycosylation pathways and cause multisystem effects. In this study, we describe an applied hydrophilic interaction chromatography ultra-performance liquid chromatography high-thr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::451c82e4d740e9a4b4fb816fc785cda4
https://pubmed.ncbi.nlm.nih.gov/24359113

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Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

Autor: C. Owoeye, Karen P. Coss, Peter Doran, Eileen P. Treacy, Mary B. Codd, Ellen Crushell, Ina Knerr, Philip Mayne, A A Monavari, Noor Aman Hamid

Publikováno v: Journal of inherited metabolic disease. 36(1)

Newborn screening for the inborn error of metabolism, classical galactosaemia prevents life-threatening complications in the neonatal period. It does not however influence the development of long-term complications and the complex pathophysiology of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276cf29ed57e8ad1574ef0931ecef06e
https://pubmed.ncbi.nlm.nih.gov/22870861

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Leptin Levels in Children and Adults with Classic Galactosaemia

Autor: Eileen P. Treacy, Nicholas J. Wareham, Joanne Hughes, Karen P. Coss, Peter Doran, Ina Knerr, Keith Burling

Publikováno v: JIMD Reports ISBN: 9783642355172

Among the long-term complications of Classic Galactosaemia (Gal) is premature ovarian insufficiency (POI) in female patients with subtle abnormalities of reproductive function also reported in male patients. Leptin is a circulating hormone which refl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8817883f27dd3099af9122149483c9fb
https://doi.org/10.1007/8904_2012_191

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