Multifarious functions of the fragile X mental retardation protein

JK Davis, K Broadie - Trends in Genetics, 2017 - cell.com
Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD),
results from the loss of Fragile X mental retardation protein (FMRP). This …

Modeling Fragile X Syndrome in Drosophila

M Drozd, B Bardoni, M Capovilla - Frontiers in Molecular …, 2018 - frontiersin.org
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a
hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental …

Quantification of protein levels in single living cells

CA Lo, I Kays, F Emran, TJ Lin, V Cvetkovska, BE Chen - Cell reports, 2015 - cell.com
Accurate measurement of the amount of specific protein a cell produces is important for
investigating basic molecular processes. We have developed a technique that allows for …

DSCAM gene triplication causes excessive GABAergic synapses in the neocortex in Down syndrome mouse models

H Liu, RN Caballero-Florán, T Hergenreder… - PLoS …, 2023 - journals.plos.org
Down syndrome (DS) is caused by the trisomy of human chromosome 21 (HSA21). A major
challenge in DS research is to identify the HSA21 genes that cause specific symptoms …

[HTML][HTML] DSCAM deficiency leads to premature spine maturation and autism-like behaviors

P Chen, Z Liu, Q Zhang, D Lin, L Song… - Journal of …, 2022 - Soc Neuroscience
Mutations in some cell adhesion molecules (CAMs) cause abnormal synapse formation and
maturation, and serve as one of the potential mechanisms of autism spectrum disorders …

Nuclear import of the DSCAM‐cytoplasmic domain drives signaling capable of inhibiting synapse formation

SM Sachse, S Lievens, LF Ribeiro, D Dascenco… - The EMBO …, 2019 - embopress.org
DSCAM and DSCAML 1 are immunoglobulin and cell adhesion‐type receptors serving
important neurodevelopmental functions including control of axon growth, branching, neurite …

DSCAM promotes axon fasciculation and growth in the developing optic pathway

FM Bruce, S Brown, JN Smith… - Proceedings of the …, 2017 - National Acad Sciences
Although many aspects of optic pathway development are beginning to be understood, the
mechanisms promoting the growth of retinal ganglion cell (RGC) axons toward visual targets …

[HTML][HTML] All creatures great and small: new approaches for understanding down syndrome genetics

AJ Moyer, K Gardiner, RH Reeves - Trends in Genetics, 2021 - cell.com
Human chromosome 21 (Hsa21) contains more than 500 genes, making trisomy 21 one of
the most complex genetic perturbations compatible with life. The ultimate goal of Down …

A systematic CRISPR screen reveals redundant and specific roles for Dscam1 isoform diversity in neuronal wiring

H Dong, X Yang, L Wu, S Zhang, J Zhang, P Guo… - PLoS …, 2023 - journals.plos.org
Drosophila melanogaster Down syndrome cell adhesion molecule 1 (Dscam1) encodes
19,008 diverse ectodomain isoforms via the alternative splicing of exon 4, 6, and 9 clusters …

Lamivudine modulates the expression of neurological impairment-related genes and LINE-1 retrotransposons in brain tissues of a Down syndrome mouse model

A Borgognone, M Casadellà… - Frontiers in Aging …, 2024 - frontiersin.org
Elevated activity of retrotransposons is increasingly recognized to be implicated in a wide
range of neurodegenerative and neurodevelopmental diseases, including Down syndrome …