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

ATPases associated with diverse cellular activities (AAA+ proteins) are a superfamily of
proteins found throughout all domains of life. The hallmark of this family is a conserved …

Lamins are intermediate filament proteins that form a scaffold, termed nuclear lamina, at the
nuclear periphery. A small fraction of lamins also localize throughout the nucleoplasm …

Mutations in genes encoding the intermediate filament nuclear lamins and associated
proteins cause a wide spectrum of diseases sometimes called “laminopathies.” Diseases …

Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

Dystonias comprise a group of movement disorders that are characterized by involuntary
movements and postures. Insight into the nature of neuronal dysfunction has been provided …

An enigmatic feature of many genetic diseases is that mutations in widely expressed genes
cause tissue-specific illness. One example is DYT1 dystonia, a neurodevelopmental disease …

A-and B-type lamins are the major intermediate filaments of the nucleus. Lamins engage in
a plethora of stable and transient interactions, near the inner nuclear membrane and …

In the past decade, a wide range of fascinating monogenic diseases have been linked to
mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate …

Dystonia is a movement disorder with many presentations and diverse causes. A systematic
approach to dystonia helps to ensure that patients with this disorder receive optimum care …