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Showing 1–13 of 13 results
Advanced filters: Author: Rickie Patani Clear advanced filters

  • Intron retention (IR) can increase protein diversity and function, and yet unregulated IR may be detrimental to cellular health. This study shows that aberrant IR occurs in ALS and finds nuclear loss of an RNA-binding protein called SFPQ as a new molecular hallmark in this devastating condition.

    • Raphaelle Luisier
    • Giulia E. Tyzack
    • Rickie Patani
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-15

  • Rickie Patani is Professor of Human Stem Cells and Regenerative Neurology at University College London and The Francis Crick Institute, and is a consultant neurologist at The National Hospital for Neurology, Queen Square, London. He has over a decade of experience using human stem cell models of neurodegeneration, and his research contributions have been recognized by the International Paulo Gontijo Award in Medicine and the International 3Rs prize.

    • Rickie Patani
    Comments & Opinion
    Nature Medicine
    Volume: 26, P: 449

  • Astrocytes can have protective or detrimental effects on neurons during injury, but the molecular mechanisms that determine these different states are unresolved. Here the authors identify a pathway via neuronal EphB1 that induces neuroprotective signalling in astrocytes through ephrin-B1 mediated STAT3 activation, which is impaired in models of amyotrophic lateral sclerosis.

    • Giulia E. Tyzack
    • Claire E. Hall
    • András Lakatos
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-17

  • A common genetic cause of Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is expansion of the intronic hexanucleotide repeat (GGGGCC)n in C9orf72. Here the authors reveal that the RNA (GGGGCC)n expansion repeat associated with ALS/FTD can generate condensates in the absence of proteins, highlighting the potential relevance of targeting RNA-structures to treat neurodegenerative diseases.

    • Federica Raguseo
    • Yiran Wang
    • Marco Di Antonio
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-15

  • The natural antisense transcript MAPT-AS1 interferes with translation of mRNA transcript into tau protein in the brain and may represent a general mechanism for controlling levels of intrinsically disordered proteins, with particular relevance for neurodegeneration.

    • Roberto Simone
    • Faiza Javad
    • Rohan de Silva
    Research
    Nature
    Volume: 594, P: 117-123

  • TDP-43 is a RNA-binding protein that forms inclusion bodies in ALS. The authors show that TDP-43 preferentially binds long clusters of UG-rich sequences and that TDP-43 binding on pre-mRNAs influences alternative splicing. Many alternative mRNA isoforms regulated by TDP-43 encode proteins that regulate neuronal development or are implicated in neurological diseases.

    • James R Tollervey
    • Tomaž Curk
    • Jernej Ule
    Research
    Nature Neuroscience
    Volume: 14, P: 452-458

  • Studying RNA function is constrained by limitations of traditional methods. This Roadmap discusses how artificial intelligence (AI) can enhance the study of how non-coding regions of mRNA regulate its function, and suggests how to use AI to harness publicly available data towards that goal.

    • Vincent Jung
    • Cédric Vincent-Cuaz
    • Raphaëlle Luisier
    Reviews
    Nature Reviews Molecular Cell Biology
    Volume: 26, P: 797-818

  • Single-cell or single-nucleus RNA-sequencing experiments form a basis for biological insights about cell types and states, but they require orthogonal experiments to confirm the functional relevance of their findings. Here the authors discuss options to support such findings and their challenges.

    • Marco Colonna
    • Genevieve Konopka
    • Naomi Habib
    Reviews
    Nature Neuroscience
    Volume: 27, P: 2310-2325

  • Astrocytes are essential for neuronal survival and function in the CNS but, under pathological conditions, they can adopt potentially harmful reactive states. This Review highlights how ‘omics’ technologies can enable the functional characterization of defined reactive astrocyte states in various pathological scenarios.

    • Rickie Patani
    • Giles E. Hardingham
    • Shane A. Liddelow
    Reviews
    Nature Reviews Neurology
    Volume: 19, P: 395-409