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Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype UBQLN2 in amyotrophic lateral sclerosis

2022-01-12

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Mutations in the UBQLN2 gene cause X-linked dominant amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) characterised by ubiquilin 2 aggregates in neurons of the motor cortex, hippocampus, and spinal cord. However, ubiquilin 2 neuropathology is also seen in sporadic and familial ALS or FTD cases not caused by UBQLN2 mutations, particularly C9orf72 -linked cases. This makes the mechanistic...

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Literature Corpus work: 6d91896d-ad0b-5b60-9330-c90db5ef4890
DOI: 10.1101/2022.01.12.475792

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Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype <i>UBQLN2</i> in amyotrophic lateral sclerosis

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