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Research HighlightSeptember 15, 2020Defective protein quality control and neuromuscular disease
JAX Associate Professor Greg Cox discovered that mutations in NEMF, a key component of RQC, cause neuromuscular disorders in mice. He also identified human patients with pathogenic variants in NEMF who exhibit both motor neuron dysfunction and intellectual disabilities, underscoring RQC’s clinical importance. -
Research HighlightOctober 03, 2019Abnormal splicing and brain disease
JAX Associate Professor Zhong-wei Zhang explores the effects of abnormal alternative RNA splicing during neurodevelopment, which can lead to increased susceptibility to seizures in adults. -
Research HighlightApril 11, 2019Mechanisms of sound perception
A new paper in PNAS offers new insights into the proteins that influence our ability to perceive sound direction and intensity. -
Research HighlightMarch 08, 2019Long-range connectivity and gene regulation networks
A complicated three-dimensional network involving proteins and specific DNA sequences helps regulate the expression of genes. New work led by JAX’s Chia-Lin Wei shows how one protein, SOX2, plays a significant role in neural stem cells, affecting many aspects of development and function.
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Blog PostJune 22, 2020How to address secondary findings from genomic testing
Consider this scenario: Jayne is 50 years old and has experienced progressing neurological symptoms over the past two years with no diagnosis. She recently had exome testing which show no genetic variants that explain her symptoms, but identifies a pathogenic variant (mutation) in MSH6. -
Research HighlightAugust 21, 2019New JAX-UConn computational tool
Online analysis tool, Protein-RNA Association Strength (PRAS), free for academic researchers. -
Press ReleaseMarch 11, 2019Exploring the hypothalamus one neuron at a time
A collaborative team from UConn and The Jackson Laboratory have characterized neuron diversity in the lateral hypothalamic area (LHA), a critical coordinator of fundamental behaviors in the brain. The results provide important clues for understanding LHA neural circuits and the potential development of targeted neuropsychiatric therapies. -
Research HighlightFebruary 28, 2019Two proteins essential for layered sterocilia elongation in the inner-ear
A research team led by Basile Tarchini has found two new proteins that are essential to the correct elongation of stereocilia, tiny hair-like cellular protrusions in the inner ear.
