Achondroplasia(ACH) is the most common genetic form of dwarfism. This disorder is inherited
as an autosomal dominant trait, although the majority of cases are sporadic. A gene for …

Proteins with expanded polyglutamine repeats cause Huntington's disease and other
neurodegenerative diseases. Transcriptional dysregulation and loss of function of transcriptional co…

Huntington's Disease (HD) is caused by an expansion of a polyglutamine tract within the
huntingtin (htt) protein. Pathogenesis in HD appears to include the cytoplasmic cleavage of htt …

Huntington's disease (HD) is an inherited, progressive neurological disorder that is caused
by a CAG/polyglutamine repeat expansion and for which there is no effective therapy. Recent …

Histone deacetylases (HDACs) — enzymes that affect the acetylation status of histones and
other important cellular proteins — have been recognized as potentially useful therapeutic …

Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects
one out of 20,000 live births. Affected individuals display features similar to those seen in …

Huntington's disease (HD) is a progressive neurodegenerative disorder for which only
symptomatic treatments of limited effectiveness are available. Preventing early misfolding steps …

The Library of Integrated Network-Based Cellular Signatures (LINCS) is an NIH Common
Fund program that catalogs how human cells globally respond to chemical, genetic, and …

Huntington’s disease (HD), an incurable neurodegenerative disorder, has a complex
pathogenesis including protein aggregation and the dysregulation of neuronal transcription and …

The discovery of TREM2 as a myeloid-specific Alzheimer’s disease (AD) risk gene has
accelerated research into the role of microglia in AD. While TREM2 mouse models have provided …