FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3136243396> ?p ?o ?g. }

• W3136243396 endingPage "1609" @default.
• W3136243396 startingPage "1593" @default.
• W3136243396 abstract "Abstract We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6–12 weeks of age and progressed rapidly to status epilepticus and death or euthanasia. Histopathological changes at autopsy were restricted to the brain. There was severe acute neuronal degeneration and necrosis diffusely affecting the grey matter throughout the brain with extensive intraneuronal mitochondrial crowding and accumulation of amyloid-β (Aβ). Combined homozygosity mapping and genome sequencing revealed an in-frame 6-bp deletion in the nuclear-encoded pitrilysin metallopeptidase 1 ( PITRM1 ) encoding for a mitochondrial protease involved in mitochondrial targeting sequence processing and degradation. The 6-bp deletion results in the loss of two amino acid residues in the N-terminal part of PITRM1, potentially affecting protein folding and function. Assessment of the mitochondrial function in the affected brain tissue showed a significant deficiency in respiratory chain function. The functional consequences of the mutation were modeled in yeast and showed impaired growth in permissive conditions and an impaired respiration capacity. Loss-of-function variants in human PITRM1 result in a childhood-onset progressive amyloidotic neurological syndrome characterized by spinocerebellar ataxia with behavioral, psychiatric and cognitive abnormalities. Homozygous Pitrm1 -knockout mice are embryonic lethal, while heterozygotes show a progressive, neurodegenerative phenotype characterized by impairment in motor coordination and Aβ deposits. Our study describes a novel early-onset PITRM1-related neurodegenerative canine brain disorder with mitochondrial dysfunction, Aβ accumulation, and lethal epilepsy. The findings highlight the essential role of PITRM1 in neuronal survival and strengthen the connection between mitochondrial dysfunction and neurodegeneration." @default.
• W3136243396 created "2021-03-29" @default.
• W3136243396 creator A5001043631 @default.
• W3136243396 creator A5004775967 @default.
• W3136243396 creator A5005070331 @default.
• W3136243396 creator A5011760436 @default.
• W3136243396 creator A5021064201 @default.
• W3136243396 creator A5032378366 @default.
• W3136243396 creator A5033058719 @default.
• W3136243396 creator A5034699029 @default.
• W3136243396 creator A5042139580 @default.
• W3136243396 creator A5044089984 @default.
• W3136243396 creator A5053016623 @default.
• W3136243396 creator A5061096092 @default.
• W3136243396 creator A5066775589 @default.
• W3136243396 creator A5067866696 @default.
• W3136243396 creator A5068762120 @default.
• W3136243396 creator A5074725036 @default.
• W3136243396 creator A5089463594 @default.
• W3136243396 date "2021-04-09" @default.
• W3136243396 modified "2023-10-15" @default.
• W3136243396 title "In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration" @default.
• W3136243396 cites W1887999370 @default.
• W3136243396 cites W1933771638 @default.
• W3136243396 cites W1941551863 @default.
• W3136243396 cites W1979252213 @default.
• W3136243396 cites W2024405748 @default.
• W3136243396 cites W2041339954 @default.
• W3136243396 cites W2062218060 @default.
• W3136243396 cites W2071501400 @default.
• W3136243396 cites W2073306755 @default.
• W3136243396 cites W2089335658 @default.
• W3136243396 cites W2118479885 @default.
• W3136243396 cites W2119180969 @default.
• W3136243396 cites W2127271204 @default.
• W3136243396 cites W2141628099 @default.
• W3136243396 cites W2142627549 @default.
• W3136243396 cites W2146005104 @default.
• W3136243396 cites W2152956782 @default.
• W3136243396 cites W2161633633 @default.
• W3136243396 cites W2168271032 @default.
• W3136243396 cites W2200448280 @default.
• W3136243396 cites W2750782486 @default.
• W3136243396 cites W2804589976 @default.
• W3136243396 cites W2922495234 @default.
• W3136243396 cites W3010213058 @default.
• W3136243396 cites W3038196404 @default.
• W3136243396 cites W4235666967 @default.
• W3136243396 doi "https://doi.org/10.1007/s00439-021-02279-y" @default.
• W3136243396 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8519929" @default.
• W3136243396 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33835239" @default.
• W3136243396 hasPublicationYear "2021" @default.
• W3136243396 type Work @default.
• W3136243396 sameAs 3136243396 @default.
• W3136243396 citedByCount "7" @default.
• W3136243396 countsByYear W31362433962021 @default.
• W3136243396 countsByYear W31362433962022 @default.
• W3136243396 countsByYear W31362433962023 @default.
• W3136243396 crossrefType "journal-article" @default.
• W3136243396 hasAuthorship W3136243396A5001043631 @default.
• W3136243396 hasAuthorship W3136243396A5004775967 @default.
• W3136243396 hasAuthorship W3136243396A5005070331 @default.
• W3136243396 hasAuthorship W3136243396A5011760436 @default.
• W3136243396 hasAuthorship W3136243396A5021064201 @default.
• W3136243396 hasAuthorship W3136243396A5032378366 @default.
• W3136243396 hasAuthorship W3136243396A5033058719 @default.
• W3136243396 hasAuthorship W3136243396A5034699029 @default.
• W3136243396 hasAuthorship W3136243396A5042139580 @default.
• W3136243396 hasAuthorship W3136243396A5044089984 @default.
• W3136243396 hasAuthorship W3136243396A5053016623 @default.
• W3136243396 hasAuthorship W3136243396A5061096092 @default.
• W3136243396 hasAuthorship W3136243396A5066775589 @default.
• W3136243396 hasAuthorship W3136243396A5067866696 @default.
• W3136243396 hasAuthorship W3136243396A5068762120 @default.
• W3136243396 hasAuthorship W3136243396A5074725036 @default.
• W3136243396 hasAuthorship W3136243396A5089463594 @default.
• W3136243396 hasBestOaLocation W31362433961 @default.
• W3136243396 hasConcept C104317684 @default.
• W3136243396 hasConcept C142724271 @default.
• W3136243396 hasConcept C169760540 @default.
• W3136243396 hasConcept C2776925932 @default.
• W3136243396 hasConcept C2777341932 @default.
• W3136243396 hasConcept C2778186239 @default.
• W3136243396 hasConcept C2779134260 @default.
• W3136243396 hasConcept C2780906641 @default.
• W3136243396 hasConcept C28859421 @default.
• W3136243396 hasConcept C3020377403 @default.
• W3136243396 hasConcept C3020761558 @default.
• W3136243396 hasConcept C501734568 @default.
• W3136243396 hasConcept C54355233 @default.
• W3136243396 hasConcept C71924100 @default.
• W3136243396 hasConcept C75563809 @default.
• W3136243396 hasConcept C86803240 @default.
• W3136243396 hasConceptScore W3136243396C104317684 @default.
• W3136243396 hasConceptScore W3136243396C142724271 @default.
• W3136243396 hasConceptScore W3136243396C169760540 @default.
• W3136243396 hasConceptScore W3136243396C2776925932 @default.
• W3136243396 hasConceptScore W3136243396C2777341932 @default.

• next