FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2897967244> ?p ?o ?g. }

• W2897967244 abstract "Abstract Late infantile neuronal ceroid lipofuscinosis ( CLN2 disease) is a rare lysosomal storage disorder caused by a monogenetic deficiency of tripeptidyl peptidase-1 (TPP1). Despite knowledge that lipofuscin is the hallmark disease product, the relevant TPP1 substrate and its role in neuronal physiology/pathology is unknown. We hypothesized that untargeted metabolite profiling of cerebrospinal fluid (CSF) could be used as an effective tool to identify disease-associated metabolic disruptions in CLN2 disease, offering the potential to identify biomarkers that inform on disease severity and progression. Accordingly, a mass spectrometry-based untargeted metabolite profiling approach was employed to differentiate CSF from normal vs. CLN2 deficient individuals. Of 1,433 metabolite features surveyed, 29 linearly correlated with currently employed disease severity scores. With tandem mass spectrometry 8 distinct metabolite identities were structurally confirmed based on retention time and fragmentation pattern matches, vs. standards. These putative CLN2 biomarkers include 7 acetylated species – all attenuated in CLN2 compared to controls. Because acetate is the major bioenergetic fuel for support of mitochondrial respiration, deficient acetylated species in CSF suggests a brain energy defect that may drive neurodegeneration. Targeted analysis of these metabolites in CSF of CLN2 patients offers a powerful new approach for monitoring CLN2 disease progression and response to therapy." @default.
• W2897967244 created "2018-10-26" @default.
• W2897967244 creator A5000612299 @default.
• W2897967244 creator A5002640981 @default.
• W2897967244 creator A5012900186 @default.
• W2897967244 creator A5023263749 @default.
• W2897967244 creator A5044117588 @default.
• W2897967244 creator A5046258728 @default.
• W2897967244 creator A5064433832 @default.
• W2897967244 creator A5073220787 @default.
• W2897967244 creator A5075726671 @default.
• W2897967244 date "2018-10-15" @default.
• W2897967244 modified "2023-10-14" @default.
• W2897967244 title "Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)" @default.
• W2897967244 cites W1639417628 @default.
• W2897967244 cites W1949098412 @default.
• W2897967244 cites W1964040548 @default.
• W2897967244 cites W1972230081 @default.
• W2897967244 cites W1975372261 @default.
• W2897967244 cites W1979320999 @default.
• W2897967244 cites W2001855472 @default.
• W2897967244 cites W2020278806 @default.
• W2897967244 cites W2031919172 @default.
• W2897967244 cites W2050416880 @default.
• W2897967244 cites W2060441085 @default.
• W2897967244 cites W2061241061 @default.
• W2897967244 cites W2062879575 @default.
• W2897967244 cites W2069988696 @default.
• W2897967244 cites W2073915432 @default.
• W2897967244 cites W2084399153 @default.
• W2897967244 cites W2088607005 @default.
• W2897967244 cites W2091927674 @default.
• W2897967244 cites W2097048253 @default.
• W2897967244 cites W2106531243 @default.
• W2897967244 cites W2112479854 @default.
• W2897967244 cites W2147955626 @default.
• W2897967244 cites W2154225401 @default.
• W2897967244 cites W2163503333 @default.
• W2897967244 cites W2166500502 @default.
• W2897967244 cites W2344452669 @default.
• W2897967244 cites W2412131698 @default.
• W2897967244 cites W2550534550 @default.
• W2897967244 cites W2622228475 @default.
• W2897967244 cites W2793116254 @default.
• W2897967244 cites W2794026369 @default.
• W2897967244 cites W2797582589 @default.
• W2897967244 cites W2799850385 @default.
• W2897967244 cites W2803664483 @default.
• W2897967244 doi "https://doi.org/10.1038/s41598-018-33449-0" @default.
• W2897967244 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6189193" @default.
• W2897967244 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30323181" @default.
• W2897967244 hasPublicationYear "2018" @default.
• W2897967244 type Work @default.
• W2897967244 sameAs 2897967244 @default.
• W2897967244 citedByCount "17" @default.
• W2897967244 countsByYear W28979672442019 @default.
• W2897967244 countsByYear W28979672442020 @default.
• W2897967244 countsByYear W28979672442021 @default.
• W2897967244 countsByYear W28979672442022 @default.
• W2897967244 countsByYear W28979672442023 @default.
• W2897967244 crossrefType "journal-article" @default.
• W2897967244 hasAuthorship W2897967244A5000612299 @default.
• W2897967244 hasAuthorship W2897967244A5002640981 @default.
• W2897967244 hasAuthorship W2897967244A5012900186 @default.
• W2897967244 hasAuthorship W2897967244A5023263749 @default.
• W2897967244 hasAuthorship W2897967244A5044117588 @default.
• W2897967244 hasAuthorship W2897967244A5046258728 @default.
• W2897967244 hasAuthorship W2897967244A5064433832 @default.
• W2897967244 hasAuthorship W2897967244A5073220787 @default.
• W2897967244 hasAuthorship W2897967244A5075726671 @default.
• W2897967244 hasBestOaLocation W28979672441 @default.
• W2897967244 hasConcept C142724271 @default.
• W2897967244 hasConcept C186198217 @default.
• W2897967244 hasConcept C21565614 @default.
• W2897967244 hasConcept C2776925932 @default.
• W2897967244 hasConcept C2777477808 @default.
• W2897967244 hasConcept C2778230176 @default.
• W2897967244 hasConcept C2779134260 @default.
• W2897967244 hasConcept C2779651940 @default.
• W2897967244 hasConcept C55493867 @default.
• W2897967244 hasConcept C60644358 @default.
• W2897967244 hasConcept C71924100 @default.
• W2897967244 hasConcept C86803240 @default.
• W2897967244 hasConcept C98274493 @default.
• W2897967244 hasConceptScore W2897967244C142724271 @default.
• W2897967244 hasConceptScore W2897967244C186198217 @default.
• W2897967244 hasConceptScore W2897967244C21565614 @default.
• W2897967244 hasConceptScore W2897967244C2776925932 @default.
• W2897967244 hasConceptScore W2897967244C2777477808 @default.
• W2897967244 hasConceptScore W2897967244C2778230176 @default.
• W2897967244 hasConceptScore W2897967244C2779134260 @default.
• W2897967244 hasConceptScore W2897967244C2779651940 @default.
• W2897967244 hasConceptScore W2897967244C55493867 @default.
• W2897967244 hasConceptScore W2897967244C60644358 @default.
• W2897967244 hasConceptScore W2897967244C71924100 @default.
• W2897967244 hasConceptScore W2897967244C86803240 @default.
• W2897967244 hasConceptScore W2897967244C98274493 @default.
• W2897967244 hasIssue "1" @default.
• W2897967244 hasLocation W28979672441 @default.
• W2897967244 hasLocation W28979672442 @default.

• next