Researchers from the University of Virginia have uncovered a critical role for the SEL1L-HRD1 complex in preventing neurodegeneration in Purkinje cells—a type of neuron crucial for motor coordination. The findings, published in JCI Insight, provide new insights into the mechanisms of cerebellar ataxia, a disorder that severely affects balance and coordination.
“Our study provides the first direct evidence that the SEL1L-HRD1 ERAD pathway is essential in Purkinje cells to prevent neurodegeneration and motor impairment,” said Mauricio Torres, PhD, first author and research scientist in the Department of Molecular Physiology and Biological Physics at UVA.
Cerebellar ataxia, often caused by Purkinje cell degeneration, is a debilitating condition impacting motor skills and fine coordination. Despite known genetic risk factors, the role of the endoplasmic reticulum-associated degradation (ERAD) pathway—responsible for eliminating misfolded proteins—in the development of cerebellar ataxia has remained unclear. This new research highlights the SEL1L-HRD1 ERAD complex as essential for Purkinje cell health and motor function.
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