FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1582993721> ?p ?o ?g. }

• W1582993721 endingPage "54" @default.
• W1582993721 startingPage "49" @default.
• W1582993721 abstract "Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome. Recently, two unique ATP7A missense mutations, T994I and P1386S, were shown to cause isolated adult-onset distal motor neuropathy. These mutations induce subtle defects in ATP7A intracellular trafficking resulting in preferential accumulation at the plasma membrane compared to wild-type ATP7A. Immunoprecipitation assays revealed abnormal interaction between ATP7AT994I and p97/VCP, a protein mutated in two autosomal dominant forms of motor neuron disease. Small-interfering RNA knockdown of valosin-containing protein corrected ATP7AT994I mislocalization. For ATP7AP1386S, flow cytometry documented that nonpermeabilized fibroblasts bound a C-terminal ATP7A antibody, suggesting unstable insertion of the eighth transmembrane segment due to a helix-breaker effect of the amino acid substitution. This could sabotage interaction of ATP7AP1386S with adaptor protein complexes. These molecular events appear to selectively disturb normal motor neuron function and lead to neurologic illness that takes years and sometimes decades to develop." @default.
• W1582993721 created "2016-06-24" @default.
• W1582993721 creator A5009062209 @default.
• W1582993721 creator A5041533942 @default.
• W1582993721 date "2014-04-22" @default.
• W1582993721 modified "2023-10-17" @default.
• W1582993721 title "ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A" @default.
• W1582993721 cites W192250034 @default.
• W1582993721 cites W1975431437 @default.
• W1582993721 cites W1983633543 @default.
• W1582993721 cites W1993651887 @default.
• W1582993721 cites W1997612389 @default.
• W1582993721 cites W2009148333 @default.
• W1582993721 cites W2029873308 @default.
• W1582993721 cites W2043345690 @default.
• W1582993721 cites W2044841577 @default.
• W1582993721 cites W2045175038 @default.
• W1582993721 cites W2046274277 @default.
• W1582993721 cites W2052607444 @default.
• W1582993721 cites W2053621032 @default.
• W1582993721 cites W2072383565 @default.
• W1582993721 cites W2080854280 @default.
• W1582993721 cites W2088537303 @default.
• W1582993721 cites W2090591555 @default.
• W1582993721 cites W2099739975 @default.
• W1582993721 cites W2124685378 @default.
• W1582993721 cites W2132194068 @default.
• W1582993721 cites W2133332147 @default.
• W1582993721 cites W2142392871 @default.
• W1582993721 cites W2154083208 @default.
• W1582993721 cites W2157647186 @default.
• W1582993721 cites W2163883123 @default.
• W1582993721 doi "https://doi.org/10.1111/nyas.12427" @default.
• W1582993721 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4041065" @default.
• W1582993721 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24754450" @default.
• W1582993721 hasPublicationYear "2014" @default.
• W1582993721 type Work @default.
• W1582993721 sameAs 1582993721 @default.
• W1582993721 citedByCount "28" @default.
• W1582993721 countsByYear W15829937212014 @default.
• W1582993721 countsByYear W15829937212015 @default.
• W1582993721 countsByYear W15829937212017 @default.
• W1582993721 countsByYear W15829937212018 @default.
• W1582993721 countsByYear W15829937212019 @default.
• W1582993721 countsByYear W15829937212020 @default.
• W1582993721 countsByYear W15829937212021 @default.
• W1582993721 countsByYear W15829937212022 @default.
• W1582993721 countsByYear W15829937212023 @default.
• W1582993721 crossrefType "journal-article" @default.
• W1582993721 hasAuthorship W1582993721A5009062209 @default.
• W1582993721 hasAuthorship W1582993721A5041533942 @default.
• W1582993721 hasBestOaLocation W15829937212 @default.
• W1582993721 hasConcept C104317684 @default.
• W1582993721 hasConcept C149011108 @default.
• W1582993721 hasConcept C170493617 @default.
• W1582993721 hasConcept C178790620 @default.
• W1582993721 hasConcept C185592680 @default.
• W1582993721 hasConcept C24530287 @default.
• W1582993721 hasConcept C2777581567 @default.
• W1582993721 hasConcept C2779736553 @default.
• W1582993721 hasConcept C2991729501 @default.
• W1582993721 hasConcept C501734568 @default.
• W1582993721 hasConcept C54355233 @default.
• W1582993721 hasConcept C544778455 @default.
• W1582993721 hasConcept C71829478 @default.
• W1582993721 hasConcept C75563809 @default.
• W1582993721 hasConcept C79879829 @default.
• W1582993721 hasConcept C86803240 @default.
• W1582993721 hasConcept C95444343 @default.
• W1582993721 hasConceptScore W1582993721C104317684 @default.
• W1582993721 hasConceptScore W1582993721C149011108 @default.
• W1582993721 hasConceptScore W1582993721C170493617 @default.
• W1582993721 hasConceptScore W1582993721C178790620 @default.
• W1582993721 hasConceptScore W1582993721C185592680 @default.
• W1582993721 hasConceptScore W1582993721C24530287 @default.
• W1582993721 hasConceptScore W1582993721C2777581567 @default.
• W1582993721 hasConceptScore W1582993721C2779736553 @default.
• W1582993721 hasConceptScore W1582993721C2991729501 @default.
• W1582993721 hasConceptScore W1582993721C501734568 @default.
• W1582993721 hasConceptScore W1582993721C54355233 @default.
• W1582993721 hasConceptScore W1582993721C544778455 @default.
• W1582993721 hasConceptScore W1582993721C71829478 @default.
• W1582993721 hasConceptScore W1582993721C75563809 @default.
• W1582993721 hasConceptScore W1582993721C79879829 @default.
• W1582993721 hasConceptScore W1582993721C86803240 @default.
• W1582993721 hasConceptScore W1582993721C95444343 @default.
• W1582993721 hasIssue "1" @default.
• W1582993721 hasLocation W15829937211 @default.
• W1582993721 hasLocation W15829937212 @default.
• W1582993721 hasLocation W15829937213 @default.
• W1582993721 hasLocation W15829937214 @default.
• W1582993721 hasOpenAccess W1582993721 @default.
• W1582993721 hasPrimaryLocation W15829937211 @default.
• W1582993721 hasRelatedWork W1970658148 @default.
• W1582993721 hasRelatedWork W2005395563 @default.
• W1582993721 hasRelatedWork W2014072888 @default.
• W1582993721 hasRelatedWork W2034896010 @default.
• W1582993721 hasRelatedWork W2047485214 @default.

• next