SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
By Faisal Fecto, Jianhua Yan, S. Vemula, Erdong Liu, Yi Yang, Wenjie Chen, J. Zheng, Yong Shi, N. Siddique, Hasan Arrat and 6 more. Archives of Neurology, 2011
645 citations recorded by the source corpus.
Subfields: Cellular and Molecular Neuroscience, Genetics, Neurology
View Paper: https://www.semanticscholar.org/paper/c5318ab3ad6c98f065145a1c227ae95b9698e4d0
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In Cellular and Molecular Neuroscience
In Genetics
In Neurology
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Citations in the corpus
- Amyotrophic lateral sclerosis: a clinical review (2020, background): “Several other mutations are found in genes involved in cargo recognition for the autophagy pathway, as they encode proteins that interact with the ubiquitinated cargo and the phagophore membrane: SQSTM1 (encoding the protein p62, which targets ubiquitinated proteins to the phagophore) [41], optineur”
- The PINK1-PARKIN mitochondrial ubiquitylation pathway drives a program of TBK1 activation and recruitment of OPTN and NDP52 to promote mitophagy (2015, background): “Interestingly, the finding that SQSTM1 and OPTN, as well as TBK1, are mutated in amyotrophic lateral sclerosis (ALS) and that OPTN patient-derived mutants are defective in mitophagy implicates this arm of the autophagy system with this neurodegenerative disease (Cirulli et al., 2015; Fecto et al., 2”
- Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities. (2017, positive): “…with the disease, but recently it has become apparent that a number of these genes encode for proteins that act as autophagy receptors, SQSTM1/p62 (Fecto et al., 2011), OPTN (Maruyama et al., 2010) and Ubiquilin 2 (Williams et al., 2012), which enhance the incorporation of autophagy substrates…”
- Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “…sequencing of p62/SQSTM1 in familial and sporadic ALS patients revealed several polymorphisms/mutations scattered throughout the coding regions (Fecto et al., 2011; Rubino et al., 2012; Teyssou et al., 2013), accompanied by TDP-43 inclusions (Teyssou et al., 2013). p62-positive inclusions have…”