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2,051 results
  • Enhanced carbonyl stress induces irreversible multimerization of CRMP2 in schizophrenia pathogenesis. [Journal Article]
    Life Sci Alliance 2019; 2(5)Toyoshima M, Jiang X, … Hirokawa N
  • Enhanced carbonyl stress underlies a subset of schizophrenia, but its causal effects remain elusive. Here, we elucidated the molecular mechanism underlying the effects of carbonyl stress in iPS cells in which the gene encoding zinc metalloenzyme glyoxalase I (GLO1), a crucial enzyme for the clearance of carbonyl stress, was disrupted. The iPS cells exhibited significant cellular and developmental…
  • A mechano-reactive coarse-grained model of the blood-clotting agent von Willebrand factor. [Journal Article]
    J Chem Phys 2019; 151(12):124905Dong C, Kania S, … Webb EB
  • The von Willebrand Factor (vWF) is a large blood glycoprotein that aids in hemostasis. Within each vWF monomer, the A2 domain hosts a cleavage site for enzyme ADAMTS13, which regulates the size of vWF multimers. This cleavage site can only be exposed when an A2 domain unfolds, and the unfolding reaction energy landscape is highly sensitive to the force conditions on the domain. Based on previous …
  • SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. [Journal Article]
    J Clin Invest 2019Del Dotto V, Ullah F, … Carelli V
  • Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions. By whole-exome sequencing, we identified mutations affecting the mi…
  • Genetic Dissection Reveals the Role of Ash1 Domains in Counteracting Polycomb Repression. [Journal Article]
    G3 (Bethesda) 2019Dorafshan E, Kahn TG, … Schwartz YB
  • Antagonistic functions of Polycomb and Trithorax proteins are essential for proper development of all metazoans. While the Polycomb proteins maintain the repressed state of many key developmental genes, the Trithorax proteins ensure that these genes stay active in cells where they have to be expressed. Ash1 is the Trithorax protein that was proposed to counteract Polycomb repression by methylatin…
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