↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Träfflista för sökning "WFRF:(Woldseth Berit) "

Search: WFRF:(Woldseth Berit)

Result 1-2 of 2

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Carrozzo, Rosalba, et al. (author) Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 2016 In: Journal of inherited metabolic disease. - : Wiley. - 1573-2665 .- 0141-8955. ; 39:2, s. 243-252 Journal article (peer-reviewed)abstract The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients.
2.	Rustad, Cecilie F., et al. (author) A monoallelic UXS1 variant associated with short-limbed short stature 2024 In: MOLECULAR GENETICS & GENOMIC MEDICINE. - 2324-9269. ; 12:6 Journal article (peer-reviewed)abstract Background: Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP-glucuronate decarboxylase 1, which catalyzes synthesis of UDP-xylose, the donor of the first building block in the linker. Defects in other enzymes involved in formation of the tetrasaccharide linker cause so-called linkeropathies, characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures, dislocations, and more. Methods: Whole exome sequencing was performed in a father and son who presented with a mild skeletal dysplasia, as well as the father's unaffected parents. Wild-type and mutant UXS1 were recombinantly expressed in Escherichia coli and purified. Enzyme activity was evaluated by LC-MS/MS. In vivo effects were studied using HeparinRed assay and metabolomics. Results: The son had short long bones, normal epiphysis, and subtle metaphyseal changes especially in his legs. The likely pathogenic heterozygous variant NM_001253875.1(UXS1):c.557T>A p.(Ile186Asn) detected in the son was de novo in the father. Purified Ile186Asn-UXS1, in contrast to the wild-type, was not able to convert UDP-glucuronic acid to UDP-xylose. Plasma glycosaminoglycan levels were decreased in both son and father. Conclusion: This is the first report linking UXS1 to short-limbed short stature in humans.

Skapa referenser, mejla, bekava och länka

Permalink

Result 1-2 of 2

Refine your search

Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Woldseth, Berit (2); Jin, Chunsheng (1); Karlsson, Niclas G., ... (1); Cordelli, Duccio M. (1); Holme, Elisabeth, 19 ... (1); Tulinius, Mar, 1953 (1); show more...; Darin, Niklas, 1964 (1); Bertini, Enrico (1); Rustad, Cecilie F. (1); Ravn, Kirstine (1); Taylor, Robert W (1); Naess, Karin (1); Uusimaa, Johanna (1); Carrozzo, Rosalba (1); Verrigni, Daniela (1); Rasmussen, Magnhild (1); de Coo, Rene (1); Amartino, Hernan (1); Bianchi, Marzia (1); Buhas, Daniela (1); Mesli, Samir (1); Born, Alfred Peter (1); Prontera, Paolo (1); Batbayli, Mustafa (1); Joensen, Fróði (1); Santorelli, Filippo ... (1); Duno, Morten (1); Jouvencel, Philippe (1); Burlina, Alberto (1); Stangoni, Gabriela (1); Redonnet-Vernhet, Is ... (1); Wibrand, Flemming (1); Dionisi-Vici, Carlo (1); Vieira, Paivi (1); Osorio, Andrés Nasci ... (1); McFarland, Robert (1); Ostergaard, Elsebet (1); Prescott, Trine (1); Backe, Paul Hoff (1); Merckoll, Else (1); Tveten, Kristian (1); Maciej-Hulme, Mariss ... (1); Sand, Elise Sandas (1); Elgstoen, Katja Bene ... (1); Holla, oystein L. (1); show less...

University: University of Gothenburg (2); Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

Year

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copyright © LIBRIS - National Library Systems
LIBRIS.kb.se

pil uppåt

Close

Copy and save the link in order to return to this view