All Stories

  1. Early Changes in Molecular Pathway Impair Brain Cell Structure and Function in FTD/ALS

    Article • Proceedings of the National Academy of Sciences, November 2024, Proceedings of the National Academy of Sciences

    Claudia Fallini

  2. LINC complex alterations are a key feature of sporadic and familial ALS/FTD

    Article • Acta Neuropathologica Communications, April 2024, Springer Science + Business Media

    Claudia Fallini

  3. LINC complex alterations are a hallmark of sporadic and familial ALS/FTD

    Article • March 2024, Cold Spring Harbor Laboratory Press

    Claudia Fallini

  4. Altered nuclear envelope homeostasis is a key pathogenic event in C9ORF72-linked ALS/FTD

    Article • February 2024, Cold Spring Harbor Laboratory Press

    Claudia Fallini

  5. LSD1/KDM1A is essential for neural stem cell differentiation in mice

    Article • December 2023, Cold Spring Harbor Laboratory Press

    Claudia Fallini

  6. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

    Article • Cell Reports, April 2022, Elsevier

    Claudia Fallini

  7. Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

    Article • Neurology Genetics, June 2021, Wolters Kluwer Health

    Claudia Fallini

  8. Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD

    Article • Neurobiology of Disease, July 2020, Elsevier

    Claudia Fallini

  9. TDP-43 and NOVA-1 RNA-binding proteins as competitive splicing regulators of the schizophrenia-associated TNIK gene

    Article • Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, September 2019, Elsevier

    Claudia Fallini

  10. Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis

    Article • Nature Communications, August 2019, Springer Science + Business Media

    Claudia Fallini

  11. The RNA-binding protein FUS/TLS undergoes calcium-mediated nuclear egress during excitotoxic stress and is required for GRIA2 mRNA processing

    Article • Journal of Biological Chemistry, June 2019, Elsevier

    Claudia Fallini

  12. Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of Amyotrophic Lateral Sclerosis

    Article • September 2018, Cold Spring Harbor Laboratory Press

    Claudia Fallini

  13. FUS/TLS undergoes calcium-mediated nuclear egress during excitotoxic stress and is required for Gria2 mRNA processing

    Article • August 2018, Cold Spring Harbor Laboratory Press

    Claudia Fallini

  14. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

    Article • Science Translational Medicine, May 2017, American Association for the Advancement of Science

    Claudia Fallini

  15. A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants

    Article • Human Molecular Genetics, April 2017, Oxford University Press (OUP)

    Claudia Fallini

  16. ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation

    Article • Scientific Reports, March 2017, Springer Science + Business Media

    Dr. Rodolfo Gabriel Gatto, Claudia Fallini

  17. The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly

    Article • Cell Reports, February 2017, Elsevier

    Claudia Fallini

  18. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Article • Nature Genetics, July 2016, Springer Science + Business Media

    Claudia Fallini

  19. Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

    Article • Journal of Neuroscience, March 2016, Society for Neuroscience

    Claudia Fallini

  20. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Article • Science, March 2015, American Association for the Advancement of Science

    Claudia Fallini

  21. Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

    Article • Neuron, October 2014, Elsevier

    Claudia Fallini

  22. Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA‐binding protein IMP1 facilitates its trafficking into motor neuron axons

    Article • Developmental Neurobiology, October 2013, Wiley

    Claudia Fallini

  23. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

    Article • Nature, July 2012, Springer Science + Business Media

    Claudia Fallini

  24. Coaggregation of RNA-Binding Proteins in a Model of TDP-43 Proteinopathy with Selective RGG Motif Methylation and a Role for RRM1 Ubiquitination

    Article • PLoS ONE, June 2012, PLOS

    Claudia Fallini

  25. Spinal muscular atrophy: The role of SMN in axonal mRNA regulation

    Article • Brain Research, June 2012, Elsevier

    Claudia Fallini

  26. The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

    Article • Human Molecular Genetics, May 2012, Oxford University Press (OUP)

    Claudia Fallini

  27. The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons

    Article • Journal of Neuroscience, March 2011, Society for Neuroscience

    Claudia Fallini

  28. High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function

    Article • Molecular Neurodegeneration, April 2010, Springer Science + Business Media

    Claudia Fallini

  29. TDP‐43 is recruited to stress granules in conditions of oxidative insult

    Article • Journal of Neurochemistry, October 2009, Wiley

    Claudia Fallini

  30. Post-transcriptional Regulation of Neuro-oncological Ventral Antigen 1 by the Neuronal RNA-binding Proteins ELAV

    Article • Journal of Biological Chemistry, March 2008, Elsevier

    Claudia Fallini

  31. The 3' untranslated region of human Cyclin-Dependent Kinase 5 Regulatory subunit 1 contains regulatory elements affecting transcript stability

    Article • BMC Molecular Biology, January 2007, Springer Science + Business Media

    Claudia Fallini

  32. A role for the ELAV RNA-binding proteins in neural stem cells: stabilization ofMsi1mRNA

    Article • Journal of Cell Science, April 2006, The Company of Biologists

    Claudia Fallini

  33. Monoallelic Expression of Mutant Thyroid Peroxidase Allele Causing Total Iodide Organification Defect

    Article • The Journal of Clinical Endocrinology & Metabolism, July 2003, Endocrine Society

    PAOLO BECK-PECCOZ, Claudia Fallini