Physiology and pathophysiology of the calcium store in the endoplasmic reticulum of neurons

A Verkhratsky - Physiological reviews, 2005 - journals.physiology.org
The endoplasmic reticulum (ER) is the largest single intracellular organelle, which is present
in all types of nerve cells. The ER is an interconnected, internally continuous system of …

Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias

A Kasumu, I Bezprozvanny - The Cerebellum, 2012 - Springer
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of more than 30
autosomal-dominant genetic and neurodegenerative disorders. SCAs are generally …

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 …

Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1

R Hourez, L Servais, D Orduz, D Gall… - Journal of …, 2011 - Soc Neuroscience
The contribution of neuronal dysfunction to neurodegeneration is studied in a mouse model
of spinocerebellar ataxia type 1 (SCA1) displaying impaired motor performance ahead of …

Neuronal atrophy early in degenerative ataxia is a compensatory mechanism to regulate membrane excitability

JM Dell'Orco, AH Wasserman, R Chopra… - Journal of …, 2015 - Soc Neuroscience
Neuronal atrophy in neurodegenerative diseases is commonly viewed as an early event in a
continuum that ultimately results in neuronal loss. In a mouse model of the polyglutamine …

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

HG Serra, CE Byam, JD Lande… - Human molecular …, 2004 - academic.oup.com
Abstract Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by
the expansion of a polyglutamine repeat within the disease protein, ataxin 1. To elucidate …

From intrinsic firing properties to selective neuronal vulnerability in neurodegenerative diseases

F Roselli, P Caroni - Neuron, 2015 - cell.com
Neurodegenerative diseases (NDDs) involve years of gradual preclinical progression. It is
widely anticipated that in order to be effective, treatments should target early stages of …

4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6

S Jayabal, HHV Chang, KE Cullen, AJ Watt - Scientific reports, 2016 - nature.com
Abstract Spinocerebellar ataxia type 6 (SCA6) is a devastating midlife-onset autosomal
dominant motor control disease with no known treatment. Using a hyper-expanded …

Aberrant cerebellar circuitry in the spinocerebellar ataxias

KJ Robinson, M Watchon, AS Laird - Frontiers in neuroscience, 2020 - frontiersin.org
The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative
diseases that share convergent disease features. A common symptom of these diseases is …

Huntington's disease of the endocrine pancreas: insulin deficiency and diabetes mellitus due to impaired insulin gene expression

OA Andreassen, A Dedeoglu, V Stanojevic… - Neurobiology of …, 2002 - Elsevier
In a transgenic mouse model of the neurodegenerative disorder Huntington's disease (HD),
age-dependent neurologic defects are accompanied by progressive alterations in glucose …