Mutations of optineurin in amyotrophic lateral sclerosis

By H. Maruyama, H. Morino, Hidefumi Ito, Y. Izumi, Hidemasa Kato, Yasuhito Watanabe, Y. Kinoshita, M. Kamada, H. Nodera, H. Suzuki and 17 more. Nature, 2010

1,267 citations recorded by the source corpus.

Subfields: Molecular Biology, Neurology

View Paper: https://www.semanticscholar.org/paper/6b11858d112b51a436559cebbaa77c994f0a95b0

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

1. Fiona M Menzies
2. Can Alkan
3. Robert H. Brown
4. Y. Wong
5. E. Holzbaur
6. Koji Yamano
7. J. Harper
8. Evan E. Eichler

In Neurology

1. Robert H. Brown
2. Fiona M Menzies
3. Y. Wong
4. Pegah Masrori
5. E. Holzbaur
6. Koji Yamano
7. J. Harper
8. P. van Damme

Citations in the corpus

• Microglia induce motor neuron death via the classical NF-κB pathway in amyotrophic lateral sclerosis (2014, positive): “Interestingly, loss-of-function mutations in the gene optineurin, which is known to negatively regulate TNF-a-induced NF-kB activation, have been found in ALS patients (Maruyama et al., 2010).”
• Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways (2015, positive): “Previous studies have implicated both OPTN (optineurin)(23) and SQSTM1 (p62)(24) in ALS.”
• Deciphering the Molecular Signals of PINK1/Parkin Mitophagy. (2016, background): “Mutations in Optineurin have been linked to primary open-angle glaucoma [51] and amyotrophic lateral sclerosis (ALS) [52], raising potentially important links with PINK1/Parkin mitophagy and other forms of neurodegeneration.”
• Molecular mechanisms and physiological functions of mitophagy (2021, positive): “TBK1, which phosphorylates optineurin and enhances its binding to ubiquitin chains, is also mutated in ALS patients (Freischmidt et al , 2015; Oakes et al , 2017; Pozzi et al , 2017).”
• A neurodegeneration-specific gene expression signature and immune profile of acutely isolated microglia from an ALS mouse model (2013, positive): “Mutations in Optn are a cause of familial ALS (Maruyama et al., 2010), and expression of mutant optineurin leads to deregulation of IFN signaling, suggesting a deleterious role in disease progression (Sakaguchi et al.”
• Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, neutral): “Transport of ubiquinated proteins to proteasome polyubiquitin p62 UBQLN2 misfolded proteins Target specification for autophagy LC3 LC3 LC3 adaptor adaptor phagophore p62 p62 OPTN Sorting endosomal cargo for degradation CHMP2B ESCRT III cell membrane protein ubiquitin to autophagy protein aggregates ”
• Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis (2019, neutral): “, 2011), OPTN (Optineurin) (Maruyama et al., 2010), VCP (Valosin-containing protein) (Johnson et al.”
• Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities. (2017, positive): “OPTN also functions to bind LC3 and Myosin VI, which is required for the trafficking of autophagosomes (Tumbarello et al., 2012), the majority of ALSassociated mutations in OPTN are located in the myosin VI-binding domain and show loss of this binding (Shen et al., 2015; Sundaramoorthy et al., 2015)”
• The PINK1-PARKIN mitochondrial ubiquitylation pathway drives a program of TBK1 activation and recruitment of OPTN and NDP52 to promote mitophagy (2015, background): “, 2006) and is near the E478G and A481V patient-based mutants (Belzil et al., 2011; Maruyama et al., 2010) also located in the UBAN domain of OPTN that also disrupt the interaction with poly-UB chains (Gleason et al.”