Huntington's disease (HD) is an inherited neurodegenerative disease characterised by
neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and …

The Endoplasmic Reticulum (ER) is an endomembrane system that plays a multiplicity of
roles in cell physiology and populates even the most distal cell compartments, including …

Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits and are linked to over 60 disease phenotypes. However, they …

Junctophilins (JPHs) comprise a family of structural proteins that connect the plasma
membrane to intracellular organelles such as the endo/sarcoplasmic reticulum (ER/SR) …

In both excitable and nonexcitable cells, diverse physiological processes are linked to
different calcium microdomains within nanoscale junctions that form between the plasma …

Contact sites between the endoplasmic reticulum (ER) and plasma membrane (PM) play a
crucial role in governing calcium regulation and lipid homeostasis. Despite their …

Abstract Huntington disease (HD)-like 2 (HDL2) is a rare genetic disease caused by an
expanded trinucleotide repeat in the JPH3 gene (encoding junctophilin 3) that shows …

Intrinsically disordered proteins and proteins with intrinsically disordered regions have been
shown to be highly prevalent in disease. Furthermore, disease-causing expansions of the …

Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits, and are linked to over 60 disease phenotypes. However, their …

PURPOSE OF REVIEW This article provides an overview of the approach to chorea in
clinical practice, beginning with a discussion of the phenomenologic features of chorea and …