Sökning: WFRF:(Parton Matthew)
> (2002-2004) >
CuZn-superoxide dis...
CuZn-superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigrees
-
- Jonsson, Andreas P. (författare)
- Umeå universitet,Klinisk kemi
-
- Bäckstrand, Åsa (författare)
- Umeå universitet,Klinisk kemi
-
- Andersen, Peter M (författare)
- Umeå universitet,Klinisk neurovetenskap
-
visa fler...
-
- Jacobsson, Johan (författare)
- Umeå universitet,Klinisk neurovetenskap
-
Parton, Matthew (författare)
-
Shaw, Chris (författare)
-
Swingler, Robert (författare)
-
Shaw, Pamela J (författare)
-
Robberecht, Wim (författare)
-
Ludolph, Albert C (författare)
-
Siddique, Teepu (författare)
-
Skvortsova, Veronica I (författare)
-
- Marklund, Stefan L (författare)
- Umeå universitet,Klinisk kemi
-
visa färre...
-
(creator_code:org_t)
- Academic Press, 2002
- 2002
- Engelska.
-
Ingår i: Neurobiology of Disease. - : Academic Press. - 0969-9961 .- 1095-953X. ; 10:3, s. 327-333
- Relaterad länk:
-
https://urn.kb.se/re...
-
visa fler...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Mutations in CuZn-superoxide dismutase (CuZn-SOD) have been linked to ALS. In most cases ALS is inherited as a dominant trait and there is marked reduction in CuZn-SOD activity in samples from the patients. The D90A mutation, however, mostly causes ALS as a recessive trait and shows near normal CuZn-SOD activity. A few familial and sporadic ALS cases heterozygous for the D90A mutation have also been found. Haplotype analysis of both types of D90A families has suggested that all recessive cases share a common founder and may carry a protective factor located close to the D90A mutant CuZn-SOD locus. To search for effects of a putative protective factor we analysed erythrocytes from D90A heterozygous individuals for SOD activity by a direct assay, subunit composition by immunoblotting, and zymogram pattern formed by isoelectric focusing and SOD staining. Included were heterozygotes from 17 recessive families, and from 2 dominant families and 4 apparently sporadic cases. The CuZn-SOD activity in the recessive and dominant groups was found to be equal, and 95% of controls. The ratio between mutant and wildtype subunits was likewise equal and 0.8:1 in both groups. The zymograms revealed multiple bands representing homo- and heterodimers. There were, however, no differences between the groups in patterns or in ratios between the molecular forms. In conclusion we find no evidence from analyses in erythrocytes that the putative protective factor in recessive families acts by simply downregulating the synthesis or altering the molecular structure or turnover of the mutant enzyme.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine (hsv//eng)
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
Nyckelord
- oxygen radicals
- amyotrophic lateral sclerosis
- erythrocytes
- superoxide dismutase
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Jonsson, Andreas ...
-
Bäckstrand, Åsa
-
Andersen, Peter ...
-
Jacobsson, Johan
-
Parton, Matthew
-
Shaw, Chris
-
visa fler...
-
Swingler, Robert
-
Shaw, Pamela J
-
Robberecht, Wim
-
Ludolph, Albert ...
-
Siddique, Teepu
-
Skvortsova, Vero ...
-
Marklund, Stefan ...
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Medicinska och f ...
-
- NATURVETENSKAP
-
NATURVETENSKAP
-
och Biologi
- Artiklar i publikationen
-
Neurobiology of ...
- Av lärosätet
-
Umeå universitet