Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration

Jia, Yichang, Mu, John C., Ackerman, Susan L.·2012·Cell
DOI 10.1016/j.cell.2011.11.057

Cited by (114)

Items 101–114 of 114

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  2. U2-2 snRNA Mutations Alter the Transcriptome
    Zhongxuan Chi, Varun Gupta, Charles C. Query · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  3. The human branchpoint-interacting stem loop sequence and structure regulates U2 snRNA expression, branchpoint recognition, and transcriptome
    Meredith Stevers, Sol J. Katzman, Melissa S. Jurica · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  4. A SteMNess perspective of survival motor neuron function: splicing factors in stem cell biology and disease
    Stuart J. Grice, Ji‐Long Liu · 2015 · Frontiers in Biology
  5. Estudos com a poli-A binding protein 1 de Trypanosoma brucei sugerem nova função nos eventos de splicing e exportação nuclear
    Maria Amélia Villela Oliva Dotta · 2012
  6. Alternative neuronal loss
    Darran M. Yates · 2012 · Nature reviews. Neuroscience
  7. U1 snRNP-Specific U1C Acts as the Gatekeeper of the Survival of Motor Neurons (SMN) Complex in snRNP Biogenesis
    Duc Minh Ngu, Sanat Myti, Ayesha Ali Khan, Jeannine Keita, Tessa Moore, Paul Andega, Alaa Aziz, Ritu Raj, Meeyeon Park, Kayunta L. Johnson-Winters et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  8. SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells
    Mariko Okubo, Megumu Ogawa, Nobuyuki Eura, Yukiko Inoue, Ken‐ichi Dewa, Tomoo Owa, Satoshi Miyashita, Terumi Murakami, Hisayoshi Nakamura, Shinichiro Hayashi et al. · 2025 · Brain
  9. Structural studies on the Integrator complex
    Moritz M. Pfleiderer · 2021
  10. Prominent Movement Disorders in RNU2 ‐2‐Related Spliceosomopathy
    Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech · 2026 · Annals of Clinical and Translational Neurology
  11. Beyond housekeeping: snRNA diversity, regulation, and human disease
    Vladyslava Liudkovska, Abraham de Jonge, Maciej Cieśla · 2026 · Trends in Genetics
  12. SNAPC4-related neurodevelopmental disorder defines a stage-dependent spliceosomopathy with heterogeneous clinical trajectories
    Marcello Scala, Mohammad Sadegh Shams Nosrati, Alexandra Ruffus, Alireza Dostmohammadi, Amir Hesam Nemati, Francesca Madia, Chiara Fiorillo, F. Ahmed, Muhammad Umair, Guillaume Banneau et al. · 2026 · Research Square
  13. RNA dysregulation as a determinant of aging and neurodegenerative vulnerability
    Sawyer Randles, Gene Wei-Ming Yeo · 2026 · Trends in Cell Biology
  14. Interrogating the role of splicing factors in Huntington’s Disease
    Gurdeep S. Kooner · 2015 · Leicester Research Archive (University of Leicester)