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Article

Detection of p62/SQSTM1 Aggregates in Cellular Models of CCM Disease by Immunofluorescence.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2020

Marchi Saverio, Retta Saverio Francesco, Pinton Paolo

Abstract excerpt

Cerebral cavernous malformations (CCM) is a familial or sporadic rare disorder that is characterized by capillary vascular lesions with a mulberry-like appearance on MRI scans. Three distinct genes have been associated to CCM disease, known as CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Loss-of-functions mutations on these genes lead to deregulation in multiple signaling pathways, thereby resulting in disturbed...

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PMID: 32524569
DOI: 10.1007/978-1-0716-0640-7_30

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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