A UDN study led by NRI-investigator, Dr. Shinya Yamamoto at and Dr. Vandana Shashi at Duke University Medical Center has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder.
The study highlights the critical and often overlooked roles played by glial cells in protecting from neuronal loss under neurodegenerative conditions.
Researchers in the Deneen lab discover female mice with glioma that lacked the POT1 gene survived less than males.
Liu lab devises guidelines to help scientists find the deconvolution method that best fits their analytical needs.
Study finds BASP-1 as a novel biomarker of adult human neural stem cells.
Researchers in the Zoghbi lab find DNA regions critical for MECP2 function, identifying potential therapeutic targets for Rett and MECP2 Duplication syndrome.
A novel "humanized" mouse model generated validates the use of antisense oligonucleotides to reverse the symptoms of MECP2 Duplication Syndrome.
Sillitoe lab finds deep brain stimulation of the cerebellum and exercise can reverse ataxia
Study finds high dosages of RCI were required to eliminate spasms and hypsarrhythmia-like activity in rodents.
Drs. Daniel Calame, Hsiao-Tuan Chao and team find a molecular cause for PMD patients without any mutations in PLP1 gene.
Lichtarge and Botas labs use a novel methodology to find 216 novel genetic modifiers of late-onset Alzheimer's disease.
The Swann lab discovers the source and mechanism of epileptic spasms.
Research from Bellen lab finds chromatin remodeling protein BICRA and the ncBAF complex function in neural development in humans and flies.
The Bellen lab in collaboration with Dr. Felipe Martelli's team in Melbourne explore the effects of low doses of insecticide, imidacloprid, on the physiology of fruit flies.
Researchers in the Zoghbi lab investigate the mechanisms involved in Ataxin-1 expression.
Researchers in Dr. HYun-Kyoung Lee identify a new regulator (Nedd4) and genetic pathway (Daam2-VHL-Nedd4) that controls myelin formation during development and after injury.
The Liu lab reveals genetic convergences between autism spectrum disorder and epilepsy during key neurodevelopmental stages.
Sardiello lab discovers how defective CLN6 can lead to Batten's disease.
Researchers in Drs. Ballabio and Pastore labs' identify a novel developmental role for transcription factor, TFEB in liver development and regeneration.
Wangler lab finds genes with more CpG in the first and second codons have a higher propensity to get mutated and so, can be used as good predictors of disease risk.