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

Träfflista för sökning "onr:"swepub:oai:prod.swepub.kib.ki.se:140567635" "

Search: onr:"swepub:oai:prod.swepub.kib.ki.se:140567635"

Result 1-1 of 1

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Olive, M, et al. (author) Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions 2019 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1396- Journal article (peer-reviewed)abstract Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T (p.His98Tyr) substitution in MB in fourteen members of six European families suffering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. Myoglobinopathy manifests in adulthood with proximal and axial weakness that progresses to involve distal muscles and causes respiratory and cardiac failure. Biochemical characterization reveals that the mutant myoglobin has altered O2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin. Preliminary studies show that mutant myoglobin may result in elevated superoxide levels at the cellular level. These data define a recognizable muscle disease associated with MB mutation.

Skapa referenser, mejla, bekava och länka

Permalink

Result 1-1 of 1

Refine your search

Type of publication: journal article (1)

Type of content: peer-reviewed (1)

Author/Editor: Sejersen, T (1); Kere, J (1); Wedell, A (1); Freyer, C (1); Wredenberg, A (1); Edstrom, L (1); show more...; Forrest, ARR (1); Ferrer, I (1); Streichenberger, N (1); Udd, B. (1); Lagerstedt-Robinson, ... (1); Goris, A (1); Bassez, G. (1); Malfatti, E. (1); Engvall, M (1); Jiao, H (1); Vidal, N (1); Clemente, P (1); Xiang, FQ (1); Miralles, F (1); Straathof, CSM (1); Olive, M. (1); Jiang, HB (1); Claeys, KG (1); Romero, NB (1); Ravenscroft, G. (1); Cladera, J. (1); Lambrughi, M. (1); Laing, NG (1); Cabrera-Serrano, M (1); Bortolotti, CA (1); Pignataro, M (1); Benseny-Cases, N (1); Hofbauer, S (1); Obinger, C (1); Battistuzzi, G (1); Bellei, M (1); Borsari, M (1); Di Rocco, G (1); Viola, HM (1); Hoo, LC (1); Baiges, JJ (1); Via, C (1); Lammens, M (1); show less...

University: Karolinska Institutet (1)

Language: English (1)

Year: 2019 (1)

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