Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Chi-Hong Wu, Claudia Fallini, Nicola Ticozzi, +35

Nature

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisDevelopmental BiologyProfilin 1Genetic Disorder +6

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

Claudia Colombrita, Eleonora Zennaro, Claudia Fallini, +5

Journal of Neurochemistry

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker, +76

Nature Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological DisorderNeurologyNeuroscience +2

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

Claudia Fallini, Gary J. Bassell, Wilfried Rossoll

Human Molecular Genetics

Neurodegenerative DiseasesUbiquitinated Tdp-43Amyotrophic Lateral SclerosisNatural SciencesMolecular Biology +13

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

Bradley Smith, Simon Topp, Claudia Fallini, +53

Science Translational Medicine

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

Claudia Fallini, Honglai Zhang, Yuehang Su, +4

Journal of Neuroscience

Mrna-binding Protein HudMolecular BiologyCytoskeletonQuantitative Image AnalysisMotor Neuron +15

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

Claudia Fallini, Paul Donlin-Asp, Jeremy P. Rouanet, +2

Journal of Neuroscience

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

Eric B. Dammer, Claudia Fallini, Yair M. Gozal, +8

PLoS ONE

Molecular BiologyRna-binding ProteinsProteomic TechnologyProtein ExpressionProtein Folding +15

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

Desiree M. Baron, Adam R. Fenton, Sara Sáez-Atiénzar, +17

Cell Reports

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

Claudia Fallini, Jeremy P. Rouanet, Paul Donlin-Asp, +5

Developmental Neurobiology

Protein Imp1Molecular BiologyCytoskeletonCellular NeurobiologySynaptic Signaling +17