FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3198310084> ?p ?o ?g. }

• W3198310084 endingPage "e0257073" @default.
• W3198310084 startingPage "e0257073" @default.
• W3198310084 abstract "Background Pyridoxine-dependent epilepsy (PDE) is due to biallelic variants in ALDH7A1 (PDE- ALDH7A1 ). ALDH7A1 encodes α-aminoadipic semialdehyde dehydrogenase in lysine catabolism. We investigated the gamma aminobutyric acid (GABA) metabolism and energy production pathways in human PDE- ALDH7A1 and its knock-out aldh7a1 zebrafish model. Methods We measured GABA pathway, and tricarboxylic acid cycle metabolites and electron transport chain activities in patients with PDE- ALDH7A1 and in knock-out aldh7a1 zebrafish. Results We report results of three patients with PDE -ALDH7A1 : low paired complex I+II and complex II+III and individual complex IV activities in muscle biopsy in patient 1 (likely more severe phenotype); significantly elevated CSF glutamate in the GABA pathway and elevated CSF citrate, succinate, isocitrate and α-ketoglutarate in the TCA cycle in patient 3 (likely more severe phenotype); and normal CSF GABA pathway and TCA cycle metabolites on long-term pyridoxine therapy in patient 2 (likely milder phenotype). All GABA pathway metabolites (γ-hydroxybutyrate, glutamine, glutamate, total GABA, succinic semialdehyde) and TCA cycle metabolites (citrate, malate, fumarate, isocitrate, lactate) were significantly low in the homozygous knock-out aldh7a1 zebrafish compared to the wildtype zebrafish. Homozygous knock-out aldh7a1 zebrafish had decreased electron transport chain enzyme activities compared to wildtype zebrafish. Discussion We report impaired electron transport chain function, accumulation of glutamate in the central nervous system and TCA cycle dysfunction in human PDE- ALDH7A1 and abnormal GABA pathway, TCA cycle and electron transport chain in knock-out aldh7a1 zebrafish. Central nervous system glutamate toxicity and impaired energy production may play important roles in the disease neuropathogenesis and severity in human PDE- ALDH7A1 ." @default.
• W3198310084 created "2021-09-13" @default.
• W3198310084 creator A5008660174 @default.
• W3198310084 creator A5027797213 @default.
• W3198310084 creator A5044968268 @default.
• W3198310084 creator A5066181905 @default.
• W3198310084 creator A5087989651 @default.
• W3198310084 creator A5089534399 @default.
• W3198310084 creator A5091155970 @default.
• W3198310084 creator A5032892971 @default.
• W3198310084 date "2021-09-08" @default.
• W3198310084 modified "2023-09-30" @default.
• W3198310084 title "Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?" @default.
• W3198310084 cites W1919329033 @default.
• W3198310084 cites W2002420413 @default.
• W3198310084 cites W2028432660 @default.
• W3198310084 cites W2029242576 @default.
• W3198310084 cites W2034024038 @default.
• W3198310084 cites W2035085726 @default.
• W3198310084 cites W2045957635 @default.
• W3198310084 cites W2048900835 @default.
• W3198310084 cites W2049062289 @default.
• W3198310084 cites W2069775190 @default.
• W3198310084 cites W2074758706 @default.
• W3198310084 cites W2083643006 @default.
• W3198310084 cites W2095780210 @default.
• W3198310084 cites W2122132256 @default.
• W3198310084 cites W2135114355 @default.
• W3198310084 cites W2139374843 @default.
• W3198310084 cites W2535654594 @default.
• W3198310084 cites W2555368858 @default.
• W3198310084 cites W2765501413 @default.
• W3198310084 cites W2766388647 @default.
• W3198310084 cites W2766603153 @default.
• W3198310084 cites W2882999734 @default.
• W3198310084 cites W2901702764 @default.
• W3198310084 cites W2912214881 @default.
• W3198310084 cites W2912876039 @default.
• W3198310084 cites W2913699401 @default.
• W3198310084 cites W2945840175 @default.
• W3198310084 cites W2972141338 @default.
• W3198310084 cites W2986012156 @default.
• W3198310084 cites W2988498016 @default.
• W3198310084 cites W2990609795 @default.
• W3198310084 cites W3098597689 @default.
• W3198310084 cites W3141936917 @default.
• W3198310084 doi "https://doi.org/10.1371/journal.pone.0257073" @default.
• W3198310084 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8425566" @default.
• W3198310084 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34495967" @default.
• W3198310084 hasPublicationYear "2021" @default.
• W3198310084 type Work @default.
• W3198310084 sameAs 3198310084 @default.
• W3198310084 citedByCount "3" @default.
• W3198310084 countsByYear W31983100842022 @default.
• W3198310084 countsByYear W31983100842023 @default.
• W3198310084 crossrefType "journal-article" @default.
• W3198310084 hasAuthorship W3198310084A5008660174 @default.
• W3198310084 hasAuthorship W3198310084A5027797213 @default.
• W3198310084 hasAuthorship W3198310084A5032892971 @default.
• W3198310084 hasAuthorship W3198310084A5044968268 @default.
• W3198310084 hasAuthorship W3198310084A5066181905 @default.
• W3198310084 hasAuthorship W3198310084A5087989651 @default.
• W3198310084 hasAuthorship W3198310084A5089534399 @default.
• W3198310084 hasAuthorship W3198310084A5091155970 @default.
• W3198310084 hasBestOaLocation W31983100841 @default.
• W3198310084 hasConcept C104317684 @default.
• W3198310084 hasConcept C165135838 @default.
• W3198310084 hasConcept C170493617 @default.
• W3198310084 hasConcept C185592680 @default.
• W3198310084 hasConcept C2776878037 @default.
• W3198310084 hasConcept C55493867 @default.
• W3198310084 hasConcept C61174792 @default.
• W3198310084 hasConcept C62231903 @default.
• W3198310084 hasConcept C86803240 @default.
• W3198310084 hasConceptScore W3198310084C104317684 @default.
• W3198310084 hasConceptScore W3198310084C165135838 @default.
• W3198310084 hasConceptScore W3198310084C170493617 @default.
• W3198310084 hasConceptScore W3198310084C185592680 @default.
• W3198310084 hasConceptScore W3198310084C2776878037 @default.
• W3198310084 hasConceptScore W3198310084C55493867 @default.
• W3198310084 hasConceptScore W3198310084C61174792 @default.
• W3198310084 hasConceptScore W3198310084C62231903 @default.
• W3198310084 hasConceptScore W3198310084C86803240 @default.
• W3198310084 hasFunder F4320322015 @default.
• W3198310084 hasIssue "9" @default.
• W3198310084 hasLocation W31983100841 @default.
• W3198310084 hasLocation W31983100842 @default.
• W3198310084 hasLocation W31983100843 @default.
• W3198310084 hasOpenAccess W3198310084 @default.
• W3198310084 hasPrimaryLocation W31983100841 @default.
• W3198310084 hasRelatedWork W1963548841 @default.
• W3198310084 hasRelatedWork W2022188529 @default.
• W3198310084 hasRelatedWork W2024219419 @default.
• W3198310084 hasRelatedWork W2095111365 @default.
• W3198310084 hasRelatedWork W2317214312 @default.
• W3198310084 hasRelatedWork W2599067145 @default.
• W3198310084 hasRelatedWork W272957246 @default.
• W3198310084 hasRelatedWork W4210988776 @default.

• next