Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease

Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms

(2016) Mukesh Gautam et al.   HUMAN MOLECULAR GENETICS

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

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

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

Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function

(2015) Javier H. Jara et al.   CEREBRAL CORTEX

Preferential PPAR-α activation reduces neuroinflammation, and blocks neurodegenerationin vivo

(2015) Mohammad A. Esmaeili et al.   HUMAN MOLECULAR GENETICS

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

(2015) Bradley N. Smith et al.   NEUROBIOLOGY OF AGING

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

(2015) Owen M. Peters et al.   NEURON

Amyotrophic lateral sclerosis-associated mutant profilin 1 increases dendritic arborisation and spine formation in primary hippocampal neurons

(2015) Merryn Brettle et al.   NEUROSCIENCE LETTERS

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

Wallerian degeneration: an emerging axon death pathway linking injury and disease

(2014) Laura Conforti et al.   NATURE REVIEWS NEUROSCIENCE

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

(2014) Bradley N. Smith et al.   NEURON

ALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease

(2014) Elizabeth B. Moloney et al.   Frontiers in Neuroscience

Amyotrophic lateral sclerosis: Problems and prospects

(2013) Jemeen Sreedharan et al.   ANNALS OF NEUROLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

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

(2013) YongPing Chen et al.   NEUROBIOLOGY OF AGING

Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China

(2013) Bin Jiao et al.   NEUROBIOLOGY OF AGING

c-Src and Neural Wiskott-Aldrich Syndrome Protein (N-WASP) Promote Low Oxygen-Induced Accelerated Brain Invasion by Gliomas

(2013) Zhuo Tang et al.   PLoS One

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

(2012) Jacqueline C. Mitchell et al.   ACTA NEUROPATHOLOGICA

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN NEUROLOGY

Wiskott-Aldrich syndrome protein (WASp) and N-WASp are involved in the regulation of NK-cell migration upon NKG2D activation

(2012) Esther Serrano-Pertierra et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

(2012) Yevgeniya Abramzon et al.   NEUROBIOLOGY OF AGING

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

(2012) Caroline Ingre et al.   NEUROBIOLOGY OF AGING

AAV2 mediated retrograde transduction of corticospinal motor neurons reveals initial and selective apical dendrite degeneration in ALS

(2012) Javier H. Jara et al.   NEUROBIOLOGY OF DISEASE

Role of the actin-binding protein profilin1 in radial migration and glial cell adhesion of granule neurons in the cerebellum

(2012) Marco B. Rust et al.   Cell Adhesion & Migration

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

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

(2011) Ya-Fei Xu et al.   Molecular Neurodegeneration

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

Wallerian-like axonal degeneration in the optic nerve after excitotoxic retinal insult: an ultrastructural study

(2010) Sarabjit K Saggu et al.   BMC NEUROSCIENCE

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

(2010) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

Endogenous Nmnat2 Is an Essential Survival Factor for Maintenance of Healthy Axons

(2010) Jonathan Gilley et al.   PLOS BIOLOGY

Cdc42 Regulates Fcγ Receptor-mediated Phagocytosis through the Activation and Phosphorylation of Wiskott-Aldrich Syndrome Protein (WASP) and Neural-WASP

(2009) Haein Park et al.   MOLECULAR BIOLOGY OF THE CELL

Prolonged compound muscle action potential duration in critical illness myopathy

(2009) Brent P. Goodman et al.   MUSCLE & NERVE

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Profilin, a multi-modal regulator of neuronal plasticity

(2008) Andreas Birbach   BIOESSAYS

Evolution of Highly Polymorphic T Cell Populations in Siblings with the Wiskott-Aldrich Syndrome

(2008) Maxim I. Lutskiy et al.   PLoS One