Cas9 interactions with host RNAs and transposable elements impair neurodevelopment
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Mutations in distinct translation-dependent quality control pathways lead to convergent molecular pathogenesis and neurodevelopmental defects.. Mutations in distinct translation-dependent quality control pathways lead to convergent molecular pathogenesis and neurodevelopmental defects.
Translation-dependent quality control pathways govern protein synthesis and proteostasis by degrading potentially toxic peptide products derived from aberrant mRNAs. However, little is known about the
NIAID Data Ecosystem70
Posttranslational modification of microtubules by the MATCAP detyrosinase
The detyrosination-tyrosination cycle, removal and re-ligation of the C-terminal tyrosine of a-tubulin, has been implicated in cognitive, cardiac and mitotic defects. The enzymatic origin of detyrosin
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Ectopic misexpression of Irx3 and Irx5 in the paraventricular nucleus of the hypothalamus contributes to hyperphagia and neurodevelopmental defects in Sim1 haploinsufficiency
Single cell sequencing of Sim1-Cre;tdTomato+ FACS sorted cells from hypothalami of wildtype and Sim1 heterozygous mice. Overall design: Single-cell RNA sequencing (Drop-Seq) was performed on tdTomato+
NIAID Data Ecosystem10
Source data supporting Figure 3 of "Pathway specific effects of ADSL deficiency on neurodevelopment".
Source data from Dutto et al, eLife 2022, Pathway specific effects of ADSL deficiency on neurodevelopment . Raw microscopy data for Fig3B, 3E and 3S1 (.lif format) in a single zip file.
DataCite Commons2022-03-16 更新30
The Batten Disease Palmitoyl Protein Thioesterase 1 Gene Regulates Neural Specification and Axon Connectivity during Drosophila Embryonic Development
Palmitoyl Protein Thioesterase 1 (PPT1) is an essential lysosomal protein in the mammalian nervous system whereby defects result in a fatal pediatric disease called Infantile Neuronal Ceroids Lipofusc
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