29 results found
    1. Developmental Biology

    Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

    Tian Yu et al.
    Mutations in CHD7, which cause CHARGE syndrome, cause a reduction in FGF8 signalling and subsequent abnormalities in the cerebellar vermis in both mice and humans.
    1. Developmental Biology
    2. Neuroscience

    Olig3 regulates early cerebellar development

    Elijah D Lowenstein et al.
    The transcription factor Olig3 safeguards the correct specification of early born cerebellar neuron derivatives and curtails an inhibitory interneuron differentiation program.
    1. Developmental Biology
    2. Neuroscience

    Cerebellar nuclei excitatory neurons regulate developmental scaling of presynaptic Purkinje cell number and organ growth

    Ryan T Willett et al.
    The first born excitatory cerebellar nuclei neurons influence the survival of their Purkinje cell partners which stimulate the expansion of granule cells and interneurons to produce functional local circuits.
    1. Developmental Biology
    2. Neuroscience

    Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth

    Parthiv Haldipur et al.
    The mesenchyme surrounding the developing brain plays a significant role in controlling the fundamental growth and patterning of the cerebellum, and misregulation of this signalling can lead to important neurodevelopmental disorders.
    1. Developmental Biology
    2. Neuroscience

    Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms

    Parthiv Haldipur et al.
    Building on previous work (Haldipur et al., 2014), we show that many key mechanisms controlling cerebellar development are likely conserved between mouse and human, and validate our mouse model of Dandy-Walker malformation.
    1. Neuroscience

    Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome

    Irene Bolea et al.
    Glutamatergic brainstem neurons drive motor and respiratory deficits, and GABAergic basal ganglia neurons cause hypothermia and fatal epileptic events, in a model of mitochondrial disease.
    1. Developmental Biology

    Neural crest-specific deletion of Rbfox2 in mice leads to craniofacial abnormalities including cleft palate

    Dasan Mary Cibi et al.
    The identification of the splicing code and all the required components of alternative splicing will be crucial for a comprehensive understanding of this process in the neural crest cell biology.
    1. Neuroscience

    A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

    Yi Bessie Liu et al.
    A mouse with a defined mutation in an extracellular matrix protein that is expressed in selected neurons sheds light on circuit abnormalities producing transient hyperkinetic movements.
    1. Genetics and Genomics
    2. Neuroscience

    Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

    Myungjin Kim et al.
    A genetic mutation that impairs autophagic flux leads to neurodegeneration and can cause ataxia and developmental delay in children.

Refine your results by:

Type
Research categories