Ca2+-release channels are giant membrane proteins that control the release of Ca2+ from
the endoplasmic and sarcoplasmic reticulum. The two members, ryanodine receptors …

Many cellular functions are regulated by calcium (Ca2+) signals that are generated by
different signaling pathways. One of these is the inositol 1, 4, 5-trisphosphate/calcium …

Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the
associated genes has provided insight into the mechanisms that could underlie other forms …

The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …

Spinocerebellar ataxia type 31 (SCA31) is an adult-onset autosomal-dominant
neurodegenerative disorder showing progressive cerebellar ataxia mainly affecting Purkinje …

Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in
origin. The past 15 years have witnessed a revolution in our understanding of the causes of …

The ataxia telangiectasia mutated (ATM) protein kinase is best known as a master regulator
of the DNA damage response. However, accumulating evidence has unveiled an equally …

Serological testing for anti-neural autoantibodies is important in patients presenting with
idiopathic cerebellar ataxia, since these autoantibodies may indicate cancer, determine …

Background Congenital nonprogressive spinocerebellar ataxia is characterized by early
gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical …

Deranged Ca 2+ signaling and an accumulation of aberrant proteins cause endoplasmic
reticulum (ER) stress, which is a hallmark of cell death implicated in many …