White matter disease articles within Nature Communications

Featured

• Article
  08 December 2020 | Open Access

  Cerebral small vessel disease genomics and its implications across the lifespan

  White matter hyperintensities (WMH) are a common brain-imaging feature of cerebral small vessel disease. Here, the authors carry out a GWAS and followup analyses for WMH-volume, implicating several variants with potential for risk stratification and drug targeting.

  • Muralidharan Sargurupremraj
  • , Hideaki Suzuki
  •  & Stéphanie Debette

• Article
  07 July 2015 | Open Access

  Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

  Some RNA polymerase (POLR) 3-related leukodystrophy cases do not have the causal mutations in POLR3A and POLR3B. Here, by exome sequencing, the authors identify recessive mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, impairing assembly and nuclear import of POLR3, but not POLR1.

  • Isabelle Thiffault
  • , Nicole I. Wolf
  •  & Geneviève Bernard

• Article | 19 March 2014

  Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction

  Defects in the cell adhesion molecule GlialCAM, the membrane protein MLC1 and the chloride channel ClC-2 are implicated in leukodystrophy. Here, Hoegg-Beiler et al.show that these proteins form a functional complex to maintain homoeostatic chloride ion transport supporting normal glial function in mice.

  • Maja B. Hoegg-Beiler
  • , Sònia Sirisi
  •  & Thomas J. Jentsch