The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …

One of the great mysteries in dystonia pathophysiology is the role of environmental factors in
disease onset and development. Progress has been made in defining the genetic …

As lifelong interphase cells, neurons face an array of unique challenges. A key challenge is
regulating nuclear pore complex (NPC) biogenesis and localization, the mechanisms of …

The nuclear pore complex (NPC) is among the most elaborate protein complexes in
eukaryotes. While ribosomes and proteasomes are known to require dedicated assembly …

Critical periods are windows of heightened plasticity occurring during neurodevelopment.
Alterations in neural activity during these periods can cause long-lasting changes in the …

The relationship between genotype and phenotype in DYT-TOR1A dystonia as well as the
associated motor circuit alterations are still insufficiently understood. DYT-TOR1A dystonia …

Background X‐linked dystonia parkinsonism is a generalized, progressive dystonia followed
by parkinsonism with onset in adulthood and accompanied by striatal neurodegeneration …

Dystonia is a disabling disease that manifests as prolonged involuntary twisting movements.
DYT-THAP1 is an inherited form of isolated dystonia caused by mutations in THAP1 …

The quest to elucidate nervous system function and dysfunction in disease has focused
largely on neurons and neural circuits. However, fundamental aspects of nervous system …

DYT1 dystonia is a debilitating neurological movement disorder, and it represents the most
frequent and severe form of hereditary primary dystonia. There is currently no cure for this …