Changes in biophysical characteristics of PFN1 due to mutation causing amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?

(2017) Niko Hensel et al.   NEUROSCIENTIST

Amyotrophic lateral sclerosis

(2017) Orla Hardiman et al.   Nature Reviews Disease Primers

Biophysical analysis of three novel profilin-1 variants associated with amyotrophic lateral sclerosis indicates a correlation between their aggregation propensity and the structural features of their globular state

(2016) Edoardo Del Poggetto et al.   BIOLOGICAL CHEMISTRY

Profilin1 biology and its mutation, actin(g) in disease

(2016) Duah Alkam et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation

(2016) Yoshinori Tanaka et al.   HUMAN MOLECULAR GENETICS

Familial Amyotrophic Lateral Sclerosis-linked Mutations inProfilin 1Exacerbate TDP-43-induced Degeneration in the Retina ofDrosophila melanogasterthrough an Increase in the Cytoplasmic Localization of TDP-43

(2016) Koji Matsukawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Profilin 1 mutants form aggregates that induce accumulation of prion-like TDP-43

(2016) Yoshinori Tanaka et al.   Prion

Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity

(2016) Chunxing Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations of Profilin-1 Associated with Amyotrophic Lateral Sclerosis Promote Aggregation Due to Structural Changes of Its Native State

(2015) Edoardo Del Poggetto et al.   ACS Chemical Biology

Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin binding and does not affect the actin cytoskeleton

(2015) Axel Freischmidt et al.   BMC NEUROSCIENCE

Structural basis for mutation-induced destabilization of profilin 1 in ALS

(2015) Sivakumar Boopathy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Folding process of Human Profilin-1, a novel protein associated with familial amyotrophic lateral sclerosis

(2015) Edoardo Del Poggetto et al.   Scientific Reports

PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis

(2013) YongPing Chen et al.   NEUROBIOLOGY OF AGING

Protein analysis by dynamic light scattering: Methods and techniques for students

(2012) Bernard Lorber et al.   BIOCHEMISTRY AND MOLECULAR BIOLOGY EDUCATION

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Refined solution structure of human profilin I

(2010) William J. Metzler et al.   PROTEIN SCIENCE

Profilin Interaction with Phosphatidylinositol (4,5)-Bisphosphate Destabilizes the Membrane of Giant Unilamellar Vesicles

(2009) Kannan Krishnan et al.   BIOPHYSICAL JOURNAL