Advances in understanding the role of disease-associated proteins in spinal muscular atrophy

Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice

(2017) Jeong-Ki Kim et al.   HUMAN MOLECULAR 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

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

Proteomic profile of embryonic stem cells with low survival motor neuron protein is consistent with developmental dysfunction

(2016) Graham C. Parker et al.   JOURNAL OF NEURAL TRANSMISSION

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

(2016) Claudia Fallini et al.   JOURNAL OF NEUROSCIENCE

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

(2016) Rajeeve Sivadasan et al.   NATURE NEUROSCIENCE

Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy

(2016) Heidi R. Fuller et al.   NEUROMUSCULAR DISORDERS

α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth

(2015) Hongxia Li et al.   HUMAN MOLECULAR GENETICS

Non-Aggregating Tau Phosphorylation by Cyclin-Dependent Kinase 5 Contributes to Motor Neuron Degeneration in Spinal Muscular Atrophy

(2015) Nimrod Miller et al.   JOURNAL OF NEUROSCIENCE

PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy

(2015) Daniel Little et al.   MOLECULAR THERAPY

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

(2015) Michela Ripolone et al.   JAMA Neurology

Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein

(2015) Lilian A. Martinez-Carrera et al.   Frontiers in Neuroscience

SMN regulates axonal local translation via miR-183/mTOR pathway

(2014) Min Jeong Kye et al.   HUMAN MOLECULAR GENETICS

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

(2014) Justin G. Boyer et al.   HUMAN MOLECULAR GENETICS

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics

(2014) Katherine V. Bricceno et al.   HUMAN MOLECULAR GENETICS

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

(2014) Thomas M. Wishart et al.   JOURNAL OF CLINICAL INVESTIGATION

Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy

(2014) Arwin Aghamaleky Sarvestany et al.   JOURNAL OF PROTEOME RESEARCH

Actin Dynamics, Architecture, and Mechanics in Cell Motility

(2014) Laurent Blanchoin et al.   PHYSIOLOGICAL REVIEWS

Presynaptic Localization of Smn and hnRNP R in Axon Terminals of Embryonic and Postnatal Mouse Motoneurons

(2014) Benjamin Dombert et al.   PLoS One

Subcellular transcriptome alterations in a cell culture model of spinal muscular atrophy point to widespread defects in axonal growth and presynaptic differentiation

(2014) Lena Saal et al.   RNA

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

(2013) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Vesicular Glycolysis Provides On-Board Energy for Fast Axonal Transport

(2013) Diana Zala et al.   CELL

Regulation of WASH-Dependent Actin Polymerization and Protein Trafficking by Ubiquitination

(2013) Yi-Heng Hao et al.   CELL

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

(2013) Brunhilde Wirth et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons

(2013) Alison N. Lyon et al.   HUMAN MOLECULAR GENETICS

Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy

(2013) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy

(2013) Kelvin See et al.   HUMAN MOLECULAR GENETICS

Time-resolved quantitative proteomics implicates the core snRNP protein SmB together with SMN in neural trafficking

(2013) Alan R. Prescott et al.   JOURNAL OF CELL SCIENCE

Axonally Synthesized  -Actin and GAP-43 Proteins Support Distinct Modes of Axonal Growth

(2013) C. J. Donnelly et al.   JOURNAL OF NEUROSCIENCE

Coronin-1 is a neurotrophin endosomal effector that is required for developmental competition for survival

(2013) Dong Suo et al.   NATURE NEUROSCIENCE

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

(2013) Kaya Bilguvar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

(2013) Z. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Cdc42- and Rac-interactive binding (CRIB) domain mediates functions of coronin

(2013) K. Swaminathan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Roles for Actin Assembly in Endocytosis

(2012) Olivia L. Mooren et al.   Annual Review of Biochemistry

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

(2012) Melissa Bowerman et al.   BMC Medicine

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

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

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor Defects

(2012) L. T. Hao et al.   JOURNAL OF NEUROSCIENCE

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Axonal transport deficit in a KIF5A –/– mouse model

(2012) Kathrin N. Karle et al.   NEUROGENETICS

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

(2012) Richard S. Finkel et al.   PLoS One

Coronin Is a Component of the Endocytic Collar of Hyphae of Neurospora crassa and Is Necessary for Normal Growth and Morphogenesis

(2012) Ramon O. Echauri-Espinosa et al.   PLoS One

The Spinal Muscular Atrophy Disease Protein SMN Is Linked to the Golgi Network

(2012) Chen-Hung Ting et al.   PLoS One

Direct interaction between GluR2 and GAPDH regulates AMPAR-mediated excitotoxicity

(2012) Min Wang et al.   Molecular Brain

Interaction of activated Rab5 with actin-bundling proteins, L- and T-plastin and its relevance to endocytic functions in mammalian cells

(2011) Makoto Hagiwara et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Structure of a Key Intermediate of the SMN Complex Reveals Gemin2's Crucial Function in snRNP Assembly

(2011) Rundong Zhang et al.   CELL

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

(2011) Young il Lee et al.   DEVELOPMENTAL BIOLOGY

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

(2011) J. N. Sleigh et al.   Disease Models & Mechanisms

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The COPI vesicle complex binds and moves with survival motor neuron within axons

(2011) Cyril Jayakumar Peter et al.   HUMAN MOLECULAR GENETICS

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

(2011) Chantal A. Mutsaers et al.   HUMAN MOLECULAR GENETICS

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

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

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

(2011) C. Fallini et al.   JOURNAL OF NEUROSCIENCE

SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA

(2011) Víctor Caraballo-Miralles et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits

(2011) B. Akten et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Glucose-induced translocation of coronin 3 regulates the retrograde transport of the secretory membrane in the pancreatic β-cells

(2010) Toshihide Kimura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The diverse functions of GAPDH: Views from different subcellular compartments

(2010) Carlos Tristan et al.   CELLULAR SIGNALLING

Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulates the level of SMN expression through ubiquitination in primary spinal muscular atrophy fibroblasts

(2010) Shih-Hsien Hsu et al.   CLINICA CHIMICA ACTA

Neuronal polarization: The cytoskeleton leads the way

(2010) Michael Stiess et al.   Developmental Neurobiology

PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons

(2010) Ke Ning et al.   HUMAN MOLECULAR GENETICS

Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy†

(2010) Hsin-Lan Wen et al.   HUMAN MOLECULAR GENETICS

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

(2010) Thomas M. Wishart et al.   HUMAN MOLECULAR GENETICS

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

(2010) Mélissa Bowerman et al.   HUMAN MOLECULAR GENETICS

HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects

(2010) Lisa Hubers et al.   HUMAN MOLECULAR GENETICS

The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal β-actin mRNA translocation in spinal motor neurons

(2010) Michael Glinka et al.   HUMAN MOLECULAR GENETICS

Identification of Novel Interacting Protein Partners of SMN Using Tandem Affinity Purification

(2010) Dina Shafey et al.   JOURNAL OF PROTEOME RESEARCH

Ubiquitin carboxyl-terminal hydrolase L1 is required for maintaining the structure and function of the neuromuscular junction

(2010) F. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects

(2010) Maria Dimitriadi et al.   PLoS Genetics

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy

(2009) Gyula Acsadi et al.   JOURNAL OF NEUROSCIENCE RESEARCH

The SMN Interactome Includes Myb-Binding Protein 1a

(2009) Heidi R. Fuller et al.   JOURNAL OF PROTEOME RESEARCH

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Tau phosphorylation: the therapeutic challenge for neurodegenerative disease

(2009) Diane P. Hanger et al.   TRENDS IN MOLECULAR MEDICINE

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

(2009) Dirk Bäumer et al.   PLoS Genetics

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

(2008) Juliane Ramser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Role of Axonal Transport in Neurodegenerative Diseases

(2008) Kurt J. De Vos et al.   Annual Review of Neuroscience

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Coordination of Actin Filament and Microtubule Dynamics during Neurite Outgrowth

(2008) Andrew W. Schaefer et al.   DEVELOPMENTAL CELL

Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan

(2008) M. Briese et al.   HUMAN MOLECULAR GENETICS

The GDP-dependent Rab27a effector coronin 3 controls endocytosis of secretory membrane in insulin-secreting cell lines

(2008) T. Kimura et al.   JOURNAL OF CELL SCIENCE

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

JNK signaling in apoptosis

(2008) D N Dhanasekaran et al.   ONCOGENE

Modeling Spinal Muscular Atrophy in Drosophila

(2008) Howard Chia-Hao Chang et al.   PLoS One

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

(2008) G. E. Oprea et al.   SCIENCE