Publications by authors named "Alice Brasile"

Tubular aggregate myopathy (TAM) is an inherited skeletal muscle disease associated with progressive muscle weakness, cramps, and myalgia. Tubular aggregates (TAs) are regular arrays of highly ordered and densely packed SR straight-tubes in muscle biopsies; the extensive presence of TAs represent a key histopathological hallmark of this disease in TAM patients. TAM is caused by gain-of-function mutations in proteins that coordinate store-operated Ca entry (SOCE): STIM1 Ca sensor proteins in the sarcoplasmic reticulum (SR) and Ca-permeable ORAI1 channels in the surface membrane.

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