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SQSTM1 gene as a potential genetic modifier of CADASIL phenotype
Journal of Neurology, 2020Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cerebral small vessel disease and is caused by mutations in the NOTCH3 gene. Interestingly, CADASIL patients present a large phenotypic variability even harboring the same pathogenic variant. We describe two CADASIL siblings
Maria Rosário Almeida +6 more
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Familial Paget Disease and SQSTM1 Mutations in New Zealand
Calcified Tissue International, 2011Genetic factors play an important role in the pathogenesis of Paget disease of bone (PDB). SQSTM1 is the most important disease-associated gene identified to date. We investigated the relationship of family history, phenotype, and SQSTM1 mutation status in New Zealand (a country with a high prevalence of PDB) in patients with a family history and/or a ...
Tim, Cundy +5 more
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Monitoring autophagic degradation of p62/SQSTM1.
Methods in enzymology, 2009The p62 protein, also called sequestosome 1 (SQSTM1), is a ubiquitin-binding scaffold protein that colocalizes with ubiquitinated protein aggregates in many neurodegenerative diseases and proteinopathies of the liver. The protein is able to polymerize via an N-terminal PB1 domain and can interact with ubiquitinated proteins via the C-terminal UBA ...
Geir, Bjørkøy +5 more
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Extracellular SQSTM1 exacerbates acute pancreatitis by activating autophagy-dependent ferroptosis
Autophagy, 2023Daolin Tang +2 more
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SQSTM1/p62 and PPARGC1A/PGC-1alpha at the interface of autophagy and vascular senescence
Autophagy, 2020Hyun Seok Hwang +2 more
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