Image of the Month: Neuron-muscle synapses in the fruit fly
Articles / Genetics / Neuroscience

Image of the Month: Neuron-muscle synapses in the fruit fly

Certain human gene variants of ATAD3A can cause rare neurological syndromes characterized by global developmental delay, low muscular tone and visual, neurological and heart problems. The association between gene variants of ATAD3A and the neurological conditons was established using a combination of patients’ whole-exome sequencing studies led by Dr. Tamar Harel and Dr. James R. Lupski, … Continue reading

Variations in gene ATAD3A can result in distinct neurological syndromes
Articles / Human genetics

Variations in gene ATAD3A can result in distinct neurological syndromes

Research has revealed that a group of rare neurological syndromes for which there was no cause can be the result of variations in the gene ATAD3A. The study, which appears in The American Journal of Human Genetics, shows that certain human variants of ATAD3A are associated with a lower number of mitochondria while the gene equivalents in the fruit … Continue reading