Tag: CUL3

March 15, 2022

Neuromuscular mechanisms of motor impairments associated with autism

December 17, 2021

SFARI 2021 Pilot awardees announced

Neuromuscular junction. Fluorescent confocal light micrograph of the junction between a nerve cell and a muscle (not seen). The axon of the nerve cell (neuron) has been tagged with a blue dye. The axon ends at end plates, which form junctions called synapses with the muscle cells. The end plates have been dyed red here by tagging them with the snake venom alpha-bungarotoxin, which binds to them. When a nerve signal reaches the synapse, it causes the synaptic vesicles to rupture, releasing the neurotransmitter acetylcholine. The protein synaptophysin, found in the vesicles, is dyed green. Acetylcholine binds to receptors on the muscle cells, causing them to contract. Magnification: x120 when printed 10cm wide.

November 16, 2021

RhoA over activation may underlie smaller brain volumes in Cul3 mutant mice By Kris Dickson

July 24, 2019

A pipeline for functional assessment of autism-associated missense mutations in C. elegans

December 01, 2017

In vitro modeling of genetic subtypes of autism

January 20, 2017

SFARI Gene: New data release

Normal human chromosomes visualized by spectral karyotyping (SKY). Spectral karyotyping is a molecular cytogenetic technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors. Fluorescently labeled probes for each chromosome are made by labeling chromosome-specific DNA with different fluorophores. Because there are a limited number of spectrally distinct fluorophores, a combinatorial labeling method is used to generate many different colors. Spectral differences generated by combinatorial labeling are captured and analyzed by using an interferometer attached to a fluorescence microscope. Image processing software then assigns a pseudo color to each spectrally different combination, allowing the visualization of the individually colored chromosomes. This technique is used to identify structural chromosome aberrations in cancer cells and other disease conditions when Giemsa banding or other techniques are not accurate enough.

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