SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration-Reference-Cited by-同舟云学术

SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration

Published:2023-06-27 Issue:3 Volume:146 Page:477-498
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Fortuna Tyler R.,Kour Sukhleen,Chimata Anuradha Venkatakrishnan,Muiños-Bühl Anixa,Anderson Eric N.,Nelson IV Charlie H.,Ward Caroline,Chauhan Om,O’Brien Casey,Rajasundaram Dhivyaa,Rajan Deepa S.,Wirth Brunhilde,Singh Amit,Pandey Udai Bhan^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00401-023-02607-8.pdf

Reference74 articles.

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2. Anhuf D, Eggermann T, Rudnik-Schoneborn S, Zerres K (2003) Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat 22:74–78. https://doi.org/10.1002/humu.10221

3. Battle DJ, Kasim M, Yong J, Lotti F, Lau CK, Mouaikel J et al (2006) The SMN complex: an assembly machine for RNPs. Cold Spring Harb Symp Quant Biol 71:313–320. https://doi.org/10.1101/sqb.2006.71.001

4. Battle DJ, Lau CK, Wan L, Deng H, Lotti F, Dreyfuss G (2006) The Gemin5 protein of the SMN complex identifies snRNAs. Mol Cell 23:273–279. https://doi.org/10.1016/j.molcel.2006.05.036

5. Boulisfane N, Choleza M, Rage F, Neel H, Soret J, Bordonne R (2011) Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient. Hum Mol Genet 20:641–648. https://doi.org/10.1093/hmg/ddq508

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