Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA)

Actin-Interacting Protein 1 Contributes to Intranuclear Rod Assembly in Dictyostelium discoideum

(2017) Hellen C. Ishikawa-Ankerhold et al.   Scientific Reports

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

(2017) Penelope J. Boyd et al.   PLoS Genetics

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

(2016) Seyyedmohsen Hosseinibarkooie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

(2016) Eilidh Somers et al.   ANNALS OF NEUROLOGY

Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell-derived model

(2016) Oliver Harschnitz et al.   ANNALS OF NEUROLOGY

Actin dynamics and cofilin-actin rods in alzheimer disease

(2016) James R. Bamburg et al.   Cytoskeleton

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

Persistent nuclear actin filaments inhibit transcription by RNA polymerase II

(2016) Leonid A. Serebryannyy et al.   JOURNAL OF CELL SCIENCE

Intrathecal Injections in Children With Spinal Muscular Atrophy

(2016) Manon Haché et al.   JOURNAL OF CHILD NEUROLOGY

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

RhoA Proteolysis Regulates the Actin Cytoskeleton in Response to Oxidative Stress

(2016) Marie-Pier Girouard et al.   PLoS One

Lrig2 Negatively Regulates Ectodomain Shedding of Axon Guidance Receptors by ADAM Proteases

(2015) Susan van Erp et al.   DEVELOPMENTAL CELL

Investigational therapies for the treatment of spinal muscular atrophy

(2015) Anna Kaczmarek et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons

(2015) Teresa N. Patitucci et al.   HUMAN MOLECULAR GENETICS

Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy

(2015) Laurent P. Bogdanik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Implication of matrix metalloproteinases in regulating neuronal disorder

(2014) Abhishek Mukherjee et al.   MOLECULAR BIOLOGY REPORTS

Semaphorin 3E Suppresses Tumor Cell Death Triggered by the Plexin D1 Dependence Receptor in Metastatic Breast Cancers

(2013) Jonathan Luchino et al.   CANCER CELL

Immobile survival of motoneuron (SMN) protein stored in Cajal bodies can be mobilized by protein interactions

(2013) Benjamin Förthmann et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Bilateral crosstalk of rho- and extracellular-signal-regulated-kinase (ERK) pathways is confined to an unidirectional mode in spinal muscular atrophy (SMA)

(2013) Niko Hensel et al.   CELLULAR SIGNALLING

At the “Junction” of Spinal Muscular Atrophy Pathogenesis: The Role of Neuromuscular Junction Dysfunction in SMA Disease Progression

(2013) B. Goulet et al.   CURRENT MOLECULAR MEDICINE

Accelerated High-Yield Generation of Limb-Innervating Motor Neurons from Human Stem Cells

(2013) M. W. Amoroso et al.   JOURNAL OF NEUROSCIENCE

Specificity of Monosynaptic Sensory-Motor Connections Imposed by Repellent Sema3E-PlexinD1 Signaling

(2013) Kaori Fukuhara et al.   Cell Reports

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Incorporation of Cofilin into Rods Depends on Disulfide Intermolecular Bonds: Implications for Actin Regulation and Neurodegenerative Disease

(2012) B. W. Bernstein et al.   JOURNAL OF NEUROSCIENCE

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction

(2012) R. G. Gogliotti et al.   JOURNAL OF NEUROSCIENCE

Getting neural circuits into shape with semaphorins

(2012) R. Jeroen Pasterkamp   NATURE REVIEWS NEUROSCIENCE

Analysis of the Fibroblast Growth Factor System Reveals Alterations in a Mouse Model of Spinal Muscular Atrophy

(2012) Niko Hensel et al.   PLoS One

Tissue deformation spatially modulates VEGF signaling and angiogenesis

(2012) N. C. Rivron et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sonic Hedgehog-activated engineered blood vessels enhance bone tissue formation

(2012) N. C. Rivron et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The role and mechanism-of-action of Sema3E and Plexin-D1 in vascular and neural development

(2012) Won-Jong Oh et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

Cofilin Aggregation Blocks Intracellular Trafficking and Induces Synaptic Loss in Hippocampal Neurons

(2011) Joseph Cichon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lentiviral Vector Design and Imaging Approaches to Visualize the Early Stages of Cellular Reprogramming

(2011) Eva Warlich et al.   MOLECULAR THERAPY

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

Spinal muscular atrophy

(2011) Adele D'Amico et al.   Orphanet Journal of Rare Diseases

FGF-2 Deficiency Does Not Influence FGF Ligand and Receptor Expression during Development of the Nigrostriatal System

(2011) Andreas Ratzka et al.   PLoS One

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies

(2010) Aurélie Vandebrouck et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

(2010) Sabine Rudnik-Schöneborn et al.   MUSCLE & NERVE

VEGFR2 (KDR/Flk1) Signaling Mediates Axon Growth in Response to Semaphorin 3E in the Developing Brain

(2010) Anaïs Bellon et al.   NEURON

Isolation and Characterization of Cytoplasmic Cofilin-Actin Rods

(2009) Laurie S. Minamide et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NCAM and polysialyltransferase profiles match dopaminergic marker gene expression but polysialic acid is dispensable for development of the midbrain dopamine system

(2009) Miriam Schiff et al.   JOURNAL OF NEUROCHEMISTRY

SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis

(2009) Mélissa Bowerman et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Specificity of sensory–motor connections encoded by Sema3e–Plxnd1 recognition

(2009) Eline Pecho-Vrieseling et al.   NATURE

Tie2Cre-mediated inactivation of plexinD1 results in congenital heart, vascular and skeletal defects

(2008) Ying Zhang et al.   DEVELOPMENTAL BIOLOGY

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

(2008) T. O. Gavrilina et al.   HUMAN MOLECULAR GENETICS

Ephrin-B2-induced Cleavage of EphB2 Receptor Is Mediated by Matrix Metalloproteinases to Trigger Cell Repulsion

(2008) Kai-Ti Lin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE