A spectrum of neurological disorders characterized by abnormal neuronal migration, differentiation,
and axon guidance and maintenance have recently been attributed to missense and …

The many functions of the microtubule cytoskeleton are essential for shaping the development
and maintaining the operation of the nervous system. With the recent discovery of …

We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific
β-tubulin isotype III, result in a spectrum of human nervous system disorders that we now …

Astrocytes extend highly branched processes that form functionally isolated microdomains,
facilitating local homeostasis by redistributing ions, removing neurotransmitters, and …

We identified homozygous truncating mutations in HOXA1 in three genetically isolated human
populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, …

Cholinergic interneurons are “gatekeepers” for striatal circuitry and play pivotal roles in
attention, goal-directed actions, habit formation, and behavioral flexibility. Accordingly, …

Ongoing pain is driven by the activation and modulation of pain-sensing neurons, affecting
physiology, motor function, and motivation to engage in certain behaviors. The complexity of …

We generated a knockout mouse for the neuronal-specific β-tubulin isoform Tubb3 to
investigate its role in nervous system formation and maintenance. Tubb3 −/− mice have no …

Microtubules are essential components of axon guidance machinery. Among β-tubulin
mutations, only those in TUBB3 have been shown to cause primary errors in axon guidance. All …

We describe nine previously unreported individuals from six families who have homozygous
mutations of HOXA1 and either the Bosley–Salih–Alorainy syndrome (BSAS) or the …