9oyo
From Proteopedia
Structure of R15L D10-NT amyloid fibrils
Structural highlights
DiseaseCHC10_HUMAN Frontotemporal dementia with motor neuron disease;Autosomal dominant mitochondrial myopathy with exercise intolerance;Amyotrophic lateral sclerosis;Lower motor neuron syndrome with late-adult onset. The disease is caused by variants affecting the gene represented in this entry. The pathological events leading to disease involve fragmentation of the mitochondrial network, mitochondrial ultrastructural abnormalities including loss, disorganization and dilatation of cristae, and mitochondrial dysfunction associated with respiratory chain deficiency (PubMed:24934289).[1] The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. FunctionCHC10_HUMAN May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.[2] References
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