Results 191 to 200 of about 104,326 (289)

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

open access: green, 2003
Anna Richards   +12 more
openalex   +2 more sources

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

open access: yesAngewandte Chemie, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster   +13 more
wiley   +2 more sources

SLC25A3 exports mitochondrial copper to metalate cytochrome <i>c</i> oxidase and prevent cuproptosis. [PDF]

open access: yesProc Natl Acad Sci U S A
Zulkifli M   +7 more
europepmc   +1 more source

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