Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration-Reference-Cited by-同舟云学术

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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration

Published:2022-01-31 Issue:2 Volume:23 Page:151-156
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Macintosh Julia,Derksen Alexa,Poulin Chantal,Braverman Nancy,Vanderver Adeline,Thiffault Isabelle,Albrecht Steffen,Bernard Geneviève

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-022-00683-8.pdf

Reference15 articles.

1. Noubade R, Wong K, Ota N, Rutz S, Eidenschenk C, Valdez PA et al (2014) NRROS negatively regulates reactive oxygen species during host defence and autoimmunity. Nature 509(7499):235–239. https://doi.org/10.1038/nature13152

2. Qin Y, Garrison BS, Ma W, Wang R, Jiang A, Li J et al (2018) A Milieu Molecule for TGF-beta required for microglia function in the nervous system. Cell. 174(1):156–71 e16. https://doi.org/10.1016/j.cell.2018.05.027

3. Liu J, Zhang Z, Chai L, Che Y, Min S, Yang R (2013) Identification and characterization of a unique leucine-rich repeat protein (LRRC33) that inhibits Toll-like receptor-mediated NF-kappaB activation. Biochem Biophys Res Commun 434(1):28–34. https://doi.org/10.1016/j.bbrc.2013.03.071

4. Butovsky O, Jedrychowski MP, Moore CS, Cialic R, Lanser AJ, Gabriely G et al (2014) Identification of a unique TGF-beta-dependent molecular and functional signature in microglia. Nat Neurosci 17(1):131–143. https://doi.org/10.1038/nn.3599

5. Smith C, McColl BW, Patir A, Barrington J, Armishaw J, Clarke A et al (2020) Biallelic mutations in NRROS cause an early onset lethal microgliopathy. Acta Neuropathol 139(5):947–951. https://doi.org/10.1007/s00401-020-02137-7

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4. Anti–Gamma Aminobutyric Acid B Autoimmune Encephalitis in an Indian Child with Early-Onset Seizures, Neurodegeneration, and Brain Calcification due to NRROS Variation: The First Reported Case Worldwide;Journal of Pediatric Epilepsy;2022-11-09

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