The inositol 1, 4, 5-trisphosphate (InsP3) receptors (InsP3Rs) are a family of Ca2+ release
channels localized predominately in the endoplasmic reticulum of all cell types. They …

Calcium (Ca2+) release from intracellular stores controls numerous cellular processes,
including cardiac and skeletal muscle contraction, synaptic transmission and metabolism …

Ion channels are membrane proteins that act as gated pathways for the movement of ions
across cell membranes. They play essential roles in the physiology of all cells. In recent …

Mice lacking the voltage-gated potassium channel α subunit, KV 1.1, display frequent
spontaneous seizures throughout adult life. In hippocampal slices from homozygous KV 1.1 …

Huntington's disease (HD) is caused by polyglutamine expansion (exp) in huntingtin (Htt).
The type 1 inositol (1, 4, 5)-triphosphate receptor (InsP 3 R1) is an intracellular calcium (Ca …

The Ca2+ release channel ryanodine receptor 2 (RyR2) is required for excitation-contraction
coupling in the heart and is also present in the brain. Mutations in RyR2 have been linked to …

The receptors for the second messenger inositol 1, 4, 5-trisphosphate (IP3) constitute a
family of Ca2+ channels responsible for the mobilization of intracellular Ca2+ stores. Three …

We observed a severe autosomal recessive movement disorder in mice used within our
laboratory. We pursued a series of experiments to define the genetic lesion underlying this …

The expansion of an unstable CAG repeat causes spinocerebellar ataxia type 1 (SCA1) and
several other neurodegenerative diseases. How polyglutamine expansions render the …

Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive
cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common …