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Showing 1–4 of 4 results
Advanced filters: Author: Christopher Grunseich Clear advanced filters

  • The neurodevelopmental disorder Rett Syndrome (RTT) is caused by sporadic mutations in the transcriptional factor methyl CpG–binding protein 2 (MeCP2). The authors show that the loss of MeCP2 also occurs in glial cells in RTT brains. Moreover, in an in vitro coculture system, mutant astrocytes from a RTT mouse model affect the dendritic morphology of both RTT mutant and wild-type hippocampal neurons. This suggests that astrocytes may have a non–cell autonomous effect on neuronal properties in RTT.

    • Nurit Ballas
    • Daniel T Lioy
    • Gail Mandel
    Research
    Nature Neuroscience
    Volume: 12, P: 311-317

  • Clinical and genetic evaluation of individuals with childhood-onset amyotrophic lateral sclerosis identifies a new monogenic cause for early-onset ALS and proposes a specific metabolic mechanism leading to motor neuron disease via sphingolipid excess.

    • Payam Mohassel
    • Sandra Donkervoort
    • Carsten G. Bönnemann
    Research
    Nature Medicine
    Volume: 27, P: 1197-1204

  • During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the disease variants in zebrafish.

    • Silvio Alessandro Di Gioia
    • Samantha Connors
    • Elizabeth C. Engle
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-16

  • Here, Prakasam and colleagues show that polyQ-expanded androgen receptor toxicity can be attenuated using artificial miRNAs targeting Lsd1 and Prmt6, two AR-co-activators overexpressed in an androgen-dependent manner specifically in skeletal muscle, thus ameliorating spinal-bulbar muscular atrophy phenotypes in flies and mice.

    • Ramachandran Prakasam
    • Angela Bonadiman
    • Maria Pennuto
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-22