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Sökning: WFRF:(Burman Joachim Docent 1974 ) > Alterations in the ...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003706naa a2200421 4500
001oai:DiVA.org:uu-379886
003SwePub
008190325s2019 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3798862 URI
0247 a https://doi.org/10.1038/s41598-019-40186-52 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Herman, Stephanieu Uppsala universitet,Klinisk kemi,Institutionen för farmaceutisk biovetenskap4 aut0 (Swepub:uu)stehe524
2451 0a 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 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
7001 a Niemelä, Valteru Uppsala universitet,Neurologi4 aut0 (Swepub:uu)valni250
7001 a Emami Khoonsari, Payamu Uppsala universitet,Klinisk kemi4 aut0 (Swepub:uu)payem239
7001 a Sundblom, Jimmy,d 1981-u Uppsala universitet,Neurokirurgi4 aut0 (Swepub:uu)jisun109
7001 a Burman, Joachim,d 1974-u Uppsala universitet,Neurologi4 aut0 (Swepub:uu)joabu293
7001 a Landtblom, Anne-Marieu Uppsala universitet,Neurologi4 aut0 (Swepub:uu)annla922
7001 a Spjuth, Ola,c Docent,d 1977-u Uppsala universitet,Institutionen för farmaceutisk biovetenskap4 aut0 (Swepub:uu)olspj499
7001 a Nyholm, Dagu Uppsala universitet,Neurologi4 aut0 (Swepub:uu)danyh856
7001 a Kultima, Kimu Uppsala universitet,Klinisk kemi4 aut0 (Swepub:uu)kikul535
7102 a Uppsala universitetb Klinisk kemi4 org
7730 t Scientific Reportsd : NATURE PUBLISHING GROUPg 9q 9x 2045-2322
8564 u https://doi.org/10.1038/s41598-019-40186-5y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1298634/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://www.nature.com/articles/s41598-019-40186-5.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-379886
8564 8u https://doi.org/10.1038/s41598-019-40186-5

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