Associated Papers
Biochemical characterizations of the central fragment of human Reelin and identification of amino acid residues involved in its secretion.
Kohno T et al.
Journal of Biochemistry, 2024
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.
Vilela J et al.
Biomedicines, 2023
38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S5.xlsx › S5
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N et al.
Brain : a Journal of Neurology, 2022
Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins.
Dazzo E et al.
Human Molecular Genetics, 2022
The regulatory role of endoplasmic reticulum chaperone proteins in neurodevelopment.
Sun H et al.
Frontiers in Neuroscience, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.
Sánchez-Sánchez SM et al.
Human Mutation, 2018
The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression.
Lammert DB et al.
Journal of Neurochemistry, 2017
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
RELN Mutations in Autism Spectrum Disorder.
Lammert DB et al.
Frontiers in Cellular Neuroscience, 2016
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