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622,515 results
  • PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. [Journal Article]
    Sci Adv 2020; 6(2):eaax9852Mzoughi S, Di Tullio F, … Guccione E
  • Holoprosencephaly (HPE) is a congenital forebrain defect often associated with embryonic lethality and lifelong disabilities. Currently, therapeutic and diagnostic options are limited by lack of knowledge of potential disease-causing mutations. We have identified a new mutation in the PRDM15 gene (C844Y) associated with a syndromic form of HPE in multiple families. We demonstrate that C844Y is a …
  • Reduced chronic restraint stress in mice overexpressing hyperactive proteasomes in the forebrain. [Journal Article]
    Mol Brain 2020; 13(1):4Kim JH, Kim A, … Lee MJ
  • While chronic restraint stress (CRS) results in depression-like behaviors possibly through oxidative stress in the brain, its molecular etiology and the development of therapeutic strategies remain elusive. Since oxidized proteins can be targeted by the ubiquitin-proteasome system, we investigated whether increased proteasome activity might affect the stress response in mice. Transgenic mice, exp…
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