Article

Resilience to Endoplasmic Reticulum Stress Mitigates Calcium-Dependent Membrane Hyperexcitability Underlying Late Disease Onset in SCA6

2025-01-28

Abstract excerpt

An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function-impairing mutant protein early in life. We examined the basis for onset of impairment in Spinocerebellar ataxia type 6 (SCA6), a canonical late-onset neurodegenerative ataxia which results from a polyglutamine expansion in the voltage gated calcium channel, Cav2.1. Cerebellar Purkinje cell spiki...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d57219b8-f829-5063-ae14-6ff08e26e6d8
DOI: 10.1101/2025.01.27.635103

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Resilience to Endoplasmic Reticulum Stress Mitigates Calcium-Dependent Membrane Hyperexcitability Underlying Late Disease Onset in SCA6DOI 10.1101/2025.01.27.635103Read

Developmental roots of cerebellar degeneration in spinocerebellar ataxia.Semantic proximity Read

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.Semantic proximity Read

<i>CACNA1A</i> mutations causing episodic and progressive ataxia alter channel trafficking and kineticsSemantic proximity Read

The spinocerebellar ataxias: order emerges from chaos.Semantic proximity Read

Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other AtaxiasSemantic proximity Read

Keeping Our Calcium in Balance to Maintain Our Balance.Semantic proximity Read

Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6Semantic proximity Read

Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA)Semantic proximity Read

Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in Spinocerebellar ataxia type 1Semantic proximity Read

Integrative Network and Brain Expression Analysis reveals Mechanistic Modules in AtaxiaSemantic proximity Read

Deficit of heat shock transcription factor 1-heat shock 70 kDa protein 1A axis determines the cell death vulnerability in a model of spinocerebellar ataxia type 6.Semantic proximity Read

Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1Semantic proximity Read