FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022138747> ?p ?o ?g. }

• W2022138747 endingPage "163" @default.
• W2022138747 startingPage "149" @default.
• W2022138747 abstract "Menkes disease (MD) is an X-linked recessive disorder characterized by copper deficiency resulting in a diminished function of copper-dependent enzymes. Most MD patients die in early childhood, although mild forms of MD have also been described. A diversity of mutations in the gene encoding of the Golgi-resident copper-transporting P1B-type ATPase ATP7A underlies MD. To elucidate the molecular consequences of the ATP7A mutations, various mutations in ATP7A associated with distinct phenotypes of MD (L873R, C1000R, N1304S, and A1362D) were analyzed in detail. All mutants studied displayed changes in protein expression and intracellular localization parallel to a dramatic decline in their copper-transporting capacity compared to ATP7A the wild-type. We restored these observed defects in ATP7A mutant proteins by culturing the cells at 30°C, which improves the quality of protein folding, similar to that which as has recently has been demonstrated for misfolded ATP7B, a copper transporter homologous to ATP7A. Further, the effect of the canine copper toxicosis protein COMMD1 on ATP7A function was examined as COMMD1 has been shown to regulate the proteolysis of ATP7B proteins. Interestingly, in addition to adjusted growth temperature, binding of COMMD1 partially restored the expression, subcellular localization, and copper-exporting activities of the ATP7A mutants. However, no effect of pharmacological chaperones was observed. Together, the presented data might provide a new direction for developing therapies to improve the residual exporting activity of unstable ATP7A mutant proteins, and suggests a potential role for COMMD1 in this process." @default.
• W2022138747 created "2016-06-24" @default.
• W2022138747 creator A5012842774 @default.
• W2022138747 creator A5020425160 @default.
• W2022138747 creator A5023747183 @default.
• W2022138747 creator A5031086317 @default.
• W2022138747 creator A5032178557 @default.
• W2022138747 creator A5035504682 @default.
• W2022138747 creator A5036520984 @default.
• W2022138747 creator A5077628725 @default.
• W2022138747 creator A5085068425 @default.
• W2022138747 date "2011-06-11" @default.
• W2022138747 modified "2023-10-07" @default.
• W2022138747 title "The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression" @default.
• W2022138747 cites W192250034 @default.
• W2022138747 cites W1933729639 @default.
• W2022138747 cites W1969649652 @default.
• W2022138747 cites W1979500322 @default.
• W2022138747 cites W1979974833 @default.
• W2022138747 cites W1985792227 @default.
• W2022138747 cites W1988255315 @default.
• W2022138747 cites W1993287146 @default.
• W2022138747 cites W2018784189 @default.
• W2022138747 cites W2019710316 @default.
• W2022138747 cites W2021344005 @default.
• W2022138747 cites W2023416426 @default.
• W2022138747 cites W2034471489 @default.
• W2022138747 cites W2039677788 @default.
• W2022138747 cites W2040734911 @default.
• W2022138747 cites W2042630986 @default.
• W2022138747 cites W2044841577 @default.
• W2022138747 cites W2047435839 @default.
• W2022138747 cites W2052062358 @default.
• W2022138747 cites W2059953271 @default.
• W2022138747 cites W2065389632 @default.
• W2022138747 cites W2071354670 @default.
• W2022138747 cites W2083570552 @default.
• W2022138747 cites W2092914966 @default.
• W2022138747 cites W2095496054 @default.
• W2022138747 cites W2098301810 @default.
• W2022138747 cites W2100738632 @default.
• W2022138747 cites W2105141857 @default.
• W2022138747 cites W2116224862 @default.
• W2022138747 cites W2118189054 @default.
• W2022138747 cites W2134224836 @default.
• W2022138747 cites W2139842719 @default.
• W2022138747 cites W2141826696 @default.
• W2022138747 cites W2147541997 @default.
• W2022138747 cites W2148495733 @default.
• W2022138747 cites W2148702046 @default.
• W2022138747 cites W2149735643 @default.
• W2022138747 cites W2150698399 @default.
• W2022138747 cites W2155767496 @default.
• W2022138747 cites W2157105532 @default.
• W2022138747 cites W4244665513 @default.
• W2022138747 cites W5718705 @default.
• W2022138747 doi "https://doi.org/10.1007/s00018-011-0743-1" @default.
• W2022138747 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3249196" @default.
• W2022138747 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21667063" @default.
• W2022138747 hasPublicationYear "2011" @default.
• W2022138747 type Work @default.
• W2022138747 sameAs 2022138747 @default.
• W2022138747 citedByCount "53" @default.
• W2022138747 countsByYear W20221387472012 @default.
• W2022138747 countsByYear W20221387472013 @default.
• W2022138747 countsByYear W20221387472014 @default.
• W2022138747 countsByYear W20221387472015 @default.
• W2022138747 countsByYear W20221387472016 @default.
• W2022138747 countsByYear W20221387472017 @default.
• W2022138747 countsByYear W20221387472018 @default.
• W2022138747 countsByYear W20221387472019 @default.
• W2022138747 countsByYear W20221387472020 @default.
• W2022138747 countsByYear W20221387472021 @default.
• W2022138747 countsByYear W20221387472023 @default.
• W2022138747 crossrefType "journal-article" @default.
• W2022138747 hasAuthorship W2022138747A5012842774 @default.
• W2022138747 hasAuthorship W2022138747A5020425160 @default.
• W2022138747 hasAuthorship W2022138747A5023747183 @default.
• W2022138747 hasAuthorship W2022138747A5031086317 @default.
• W2022138747 hasAuthorship W2022138747A5032178557 @default.
• W2022138747 hasAuthorship W2022138747A5035504682 @default.
• W2022138747 hasAuthorship W2022138747A5036520984 @default.
• W2022138747 hasAuthorship W2022138747A5077628725 @default.
• W2022138747 hasAuthorship W2022138747A5085068425 @default.
• W2022138747 hasBestOaLocation W20221387471 @default.
• W2022138747 hasConcept C104317684 @default.
• W2022138747 hasConcept C127716648 @default.
• W2022138747 hasConcept C143065580 @default.
• W2022138747 hasConcept C178790620 @default.
• W2022138747 hasConcept C181199279 @default.
• W2022138747 hasConcept C185592680 @default.
• W2022138747 hasConcept C23265538 @default.
• W2022138747 hasConcept C2777581567 @default.
• W2022138747 hasConcept C2779736553 @default.
• W2022138747 hasConcept C2779926675 @default.
• W2022138747 hasConcept C2991729501 @default.
• W2022138747 hasConcept C501734568 @default.
• W2022138747 hasConcept C544778455 @default.

• next