The pathological aggregation of the presynaptic protein α-synuclein (α-syn) and propagation
through synaptically coupled neuroanatomical tracts is increasingly thought to underlie the …

Rare diseases are very difficult to study mechanistically and to develop therapies for
because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome …

Here we describe a staged, behavioral testing approach that can be used to screen for
compounds that exhibit in vivo efficacy on cognitive and functional motor behaviors in …

Germline histone H3. 3 amino acid substitutions, including H3. 3G34R/V, cause severe
neurodevelopmental syndromes. To understand how these mutations impact brain …

The hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous
group of disorders characterized by progressive lower limb spasticity. Mutations in subunits …

Haploinsufficiency of progranulin (PGRN) is a leading cause of frontotemporal lobar
degeneration (FTLD). Loss of PGRN leads to lysosome dysfunction during aging. TMEM …

Transcription factor MEF2C regulates multiple genes linked to autism spectrum disorder
(ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disability, and …

Neurotransmission depends on synaptic vesicle (SV) exocytosis driven by soluble N-
ethylmaleimide-sensitive factor attachment protein receptor (SNARE) complex formation of …

Intracellular nicotinamide phosphoribosyltransferase (iNAMPT) is the rate-limiting enzyme of
the mammalian NAD+ biosynthesis salvage pathway. Using inducible and conditional …

Sphingolipids are membrane and bioactive lipids that are required for many aspects of
normal mammalian development and physiology. However, the importance of the regulatory …