The physiology, pathology, and pharmacology of voltage-gated calcium channels and their future therapeutic potential

GW Zamponi, J Striessnig, A Koschak… - Pharmacological …, 2015 - Elsevier
Voltage-gated calcium channels are required for many key functions in the body. In this
review, the different subtypes of voltage-gated calcium channels are described and their …

Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond

AC Dolphin - Nature Reviews Neuroscience, 2012 - nature.com
The voltage-gated calcium channel α2δ and β subunits are traditionally considered to be
auxiliary subunits that enhance channel trafficking, increase the expression of functional …

Cell type-specific biotin labeling in vivo resolves regional neuronal and astrocyte proteomic differences in mouse brain

S Rayaprolu, S Bitarafan, JV Santiago… - Nature …, 2022 - nature.com
Proteomic profiling of brain cell types using isolation-based strategies pose limitations in
resolving cellular phenotypes representative of their native state. We describe a mouse line …

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013 - Elsevier
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2

J Liu, TS Tang, H Tu, O Nelson, E Herndon… - Journal of …, 2009 - Soc Neuroscience
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited,
neurodegenerative disease caused by an expansion of polyglutamine tracts in the cytosolic …

Trinucleotide repeats: mechanisms and pathophysiology

CJ Cummings, HY Zoghbi - Annual review of genomics and …, 2000 - annualreviews.org
Within the closing decade of the twentieth century, 14 neurological disorders were shown to
result from the expansion of unstable trinucleotide repeats, establishing this once unique …

Apoptosis in Huntington's disease

MA Hickey, MF Chesselet - Progress in Neuro-Psychopharmacology and …, 2003 - Elsevier
Huntington's disease (HD) is an autosomal dominant, fatal disorder. Patients display
increasing motor, psychiatric and cognitive impairment and at autopsy, late-stage patient …

CaV2.1 channelopathies

D Pietrobon - Pflügers Archiv-European Journal of Physiology, 2010 - Springer
Mutations in the CACNA1A gene that encodes the pore-forming α 1 subunit of human
voltage-gated Ca V 2.1 (P/Q-type) Ca 2+ channels cause several autosomal-dominant …

The CAG–polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology

CA Stoyas, AR La Spada - Handbook of clinical neurology, 2018 - Elsevier
Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety
of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to …

Cell biology of spinocerebellar ataxia

HT Orr - Journal of Cell Biology, 2012 - rupress.org
Ataxia is a neurological disorder characterized by loss of control of body movements.
Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is …