Sökning: onr:"swepub:oai:DiVA.org:uu-379886" > Alterations in the ...
Fältnamn | Indikatorer | Metadata |
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000 | 03706naa a2200421 4500 | |
001 | oai:DiVA.org:uu-379886 | |
003 | SwePub | |
008 | 190325s2019 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3798862 URI |
024 | 7 | a https://doi.org/10.1038/s41598-019-40186-52 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Herman, Stephanieu Uppsala universitet,Klinisk kemi,Institutionen för farmaceutisk biovetenskap4 aut0 (Swepub:uu)stehe524 |
245 | 1 0 | a Alterations in the tyrosine and phenylalanine pathways revealed by biochemical profiling in cerebrospinal fluid of Huntington's disease subjects |
264 | c 2019-03-11 | |
264 | 1 | b NATURE PUBLISHING GROUP,c 2019 |
338 | a electronic2 rdacarrier | |
520 | a Huntington's disease (HD) is a severe neurological disease leading to psychiatric symptoms, motor impairment and cognitive decline. The disease is caused by a CAG expansion in the huntingtin (HTT) gene, but how this translates into the clinical phenotype of HD remains elusive. Using liquid chromatography mass spectrometry, we analyzed the metabolome of cerebrospinal fluid (CSF) from premanifest and manifest HD subjects as well as control subjects. Inter-group differences revealed that the tyrosine metabolism, including tyrosine, thyroxine, L-DOPA and dopamine, was significantly altered in manifest compared with premanifest HD. These metabolites demonstrated moderate to strong associations to measures of disease severity and symptoms. Thyroxine and dopamine also correlated with the five year risk of onset in premanifest HD subjects. The phenylalanine and the purine metabolisms were also significantly altered, but associated less to disease severity. Decreased levels of lumichrome were commonly found in mutated HTT carriers and the levels correlated with the five year risk of disease onset in premanifest carriers. These biochemical findings demonstrates that the CSF metabolome can be used to characterize molecular pathogenesis occurring in HD, which may be essential for future development of novel HD therapies. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
700 | 1 | a Niemelä, Valteru Uppsala universitet,Neurologi4 aut0 (Swepub:uu)valni250 |
700 | 1 | a Emami Khoonsari, Payamu Uppsala universitet,Klinisk kemi4 aut0 (Swepub:uu)payem239 |
700 | 1 | a Sundblom, Jimmy,d 1981-u Uppsala universitet,Neurokirurgi4 aut0 (Swepub:uu)jisun109 |
700 | 1 | a Burman, Joachim,d 1974-u Uppsala universitet,Neurologi4 aut0 (Swepub:uu)joabu293 |
700 | 1 | a Landtblom, Anne-Marieu Uppsala universitet,Neurologi4 aut0 (Swepub:uu)annla922 |
700 | 1 | a Spjuth, Ola,c Docent,d 1977-u Uppsala universitet,Institutionen för farmaceutisk biovetenskap4 aut0 (Swepub:uu)olspj499 |
700 | 1 | a Nyholm, Dagu Uppsala universitet,Neurologi4 aut0 (Swepub:uu)danyh856 |
700 | 1 | a Kultima, Kimu Uppsala universitet,Klinisk kemi4 aut0 (Swepub:uu)kikul535 |
710 | 2 | a Uppsala universitetb Klinisk kemi4 org |
773 | 0 | t Scientific Reportsd : NATURE PUBLISHING GROUPg 9q 9x 2045-2322 |
856 | 4 | u https://doi.org/10.1038/s41598-019-40186-5y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1298634/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://www.nature.com/articles/s41598-019-40186-5.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-379886 |
856 | 4 8 | u https://doi.org/10.1038/s41598-019-40186-5 |
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