The role of survival motor neuron protein (SMN) in protein homeostasis

Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology

(2018) Luke W. Thompson et al.   JOURNAL OF CELL SCIENCE

Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes

(2018) Natalia Rodriguez-Muela et al.   JOURNAL OF CLINICAL INVESTIGATION

Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCFSlmb degron

(2018) Kelsey M. Gray et al.   MOLECULAR BIOLOGY OF THE CELL

Advances in therapy for spinal muscular atrophy: promises and challenges

(2018) Ewout J. N. Groen et al.   Nature Reviews Neurology

Spatially and temporally regulating translation via mRNA-binding proteins in cellular and neuronal function

(2017) Paul G. Donlin-Asp et al.   FEBS LETTERS

Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy

(2017) S Jablonka et al.   GENE THERAPY

The clinical landscape for SMA in a new therapeutic era

(2017) K Talbot et al.   GENE THERAPY

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

(2017) Sebastian Rademacher et al.   HUMAN MOLECULAR GENETICS

Monitoring and Measuring Autophagy

(2017) Saori R. Yoshii et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation

(2017) Thi Hao le et al.   JOURNAL OF NEUROSCIENCE

The nano-architecture of the axonal cytoskeleton

(2017) Christophe Leterrier et al.   NATURE REVIEWS NEUROSCIENCE

Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy

(2017) Antonio Piras et al.   Cell Death & Disease

Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease

(2017) Natalia Rodriguez-Muela et al.   Cell Reports

The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly

(2017) Paul G. Donlin-Asp et al.   Cell Reports

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

(2017) Paola Bernabò et al.   Cell 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

Advances in modeling and treating spinal muscular atrophy

(2016) Meaghan Van Alstyne et al.   CURRENT OPINION IN NEUROLOGY

Autophagy modulators regulate survival motor neuron protein stability in motoneurons

(2016) Ambika Periyakaruppiah et al.   EXPERIMENTAL NEUROLOGY

Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity

(2016) Ke-Jun Han et al.   HUMAN MOLECULAR GENETICS

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

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

A U1 snRNP–specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange

(2016) Byung Ran So et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

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

Decreased function of survival motor neuron protein impairs endocytic pathways

(2016) Maria Dimitriadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Towards an understanding of regulating Cajal body activity by protein modification

(2016) Michael D. Hebert et al.   RNA Biology

A U1 snRNP–specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange

(2016) Byung Ran So et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

SMN and coilin negatively regulate dyskerin association with telomerase RNA

(2016) Aaron R. Poole et al.   Biology Open

Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene

(2016) Joonbae Seo et al.   PLoS One

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein

(2016) Joonbae Seo et al.   Scientific Reports

Molecular mechanisms and animal models of spinal muscular atrophy

(2015) Brittany M. Edens et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2015) Hongxia Li et al.   HUMAN MOLECULAR GENETICS

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

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

Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy

(2015) Rachael A. Powis et al.   JOURNAL OF ANATOMY

Pluripotent stem cell-based models of spinal muscular atrophy

(2015) Emanuele Frattini et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Autophagy at the crossroads of catabolism and anabolism

(2015) Jasvinder Kaur et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

(2015) Michela Ripolone et al.   JAMA Neurology

The axonal cytoskeleton: from organization to function

(2015) Josta T. Kevenaar et al.   Frontiers in Molecular Neuroscience

On the road with WRAP53β: guardian of Cajal bodies and genome integrity

(2015) Sofia Henriksson et al.   Frontiers in Genetics

Selective turnover of p62/A170/SQSTM1 by autophagy

(2014) Yoshinobu Ichimura et al.   Autophagy

Defining and measuring autophagosome flux—concept and reality

(2014) Ben Loos et al.   Autophagy

Phosphoregulation of the human SMN complex

(2014) Alma Husedzinovic et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

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

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

The SMN Tudor SIM-like domain is key to SmD1 and coilin interactions and to Cajal body biogenesis

(2014) O. Tapia et al.   JOURNAL OF CELL SCIENCE

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

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

Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy

(2014) Sara K. Custer et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A day in the life of the spliceosome

(2014) A. Gregory Matera et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Self-consumption: the interplay of autophagy and apoptosis

(2014) Guillermo Mariño et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target

(2014) Rachael A. Powis et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Zebrafish models of human motor neuron diseases: Advantages and limitations

(2014) Patrick J. Babin et al.   PROGRESS IN NEUROBIOLOGY

SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease

(2014) Darrick K. Li et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

(2013) Claudia Fallini et al.   Developmental Neurobiology

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

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy

(2013) James N. Sleigh et al.   HUMAN MOLECULAR GENETICS

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

(2013) Ewout J.N. Groen 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

The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein

(2013) Deborah Y. Kwon et al.   MOLECULAR BIOLOGY OF THE CELL

The autophagosome: origins unknown, biogenesis complex

(2013) Christopher A. Lamb et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The intricate relationship between microtubules and their associated motor proteins during axon growth and maintenance

(2013) Andreas Prokop   Neural Development

Mutation in E1, the Ubiquitin Activating Enzyme, Reduces Drosophila Lifespan and Results in Motor Impairment

(2013) Hsiu-Yu Liu et al.   PLoS One

Inhibition of PIKfyve by YM-201636 Dysregulates Autophagy and Leads to Apoptosis-Independent Neuronal Cell Death

(2013) Sally Martin et al.   PLoS One

Rapamycin Upregulates Autophagy by Inhibiting the mTOR-ULK1 Pathway, Resulting in Reduced Podocyte Injury

(2013) Lingling Wu et al.   PLoS One

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

Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization

(2013) F. Rage et al.   RNA

Survival motor neuron protein reduction deregulates autophagy in spinal cord motoneurons in vitro

(2013) A Garcera et al.   Cell Death & Disease

Pleiotropic effects of miR-183~96~182 converge to regulate cell survival, proliferation and migration in medulloblastoma

(2012) Shyamal Dilhan Weeraratne et al.   ACTA NEUROPATHOLOGICA

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

(2012) Francesco Lotti et al.   CELL

Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy

(2012) Zhi-Bo Wang et al.   CELL RESEARCH

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy

(2012) Olga Tapia et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Mouse models of SMA: tools for disease characterization and therapeutic development

(2012) Thomas W. Bebee et al.   HUMAN GENETICS

A novel function for the survival motoneuron protein as a translational regulator

(2012) Gabriel Sanchez et al.   HUMAN MOLECULAR GENETICS

COPI transport complexes bind to specific RNAs in neuronal cells

(2012) Adrian G. Todd et al.   HUMAN MOLECULAR GENETICS

Human Axonal Survival of Motor Neuron (a-SMN) Protein Stimulates Axon Growth, Cell Motility, C-C Motif Ligand 2 (CCL2), and Insulin-like Growth Factor-1 (IGF1) Production

(2012) Denise Locatelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ubiquitin-specific Protease 9x Deubiquitinates and Stabilizes the Spinal Muscular Atrophy Protein-Survival Motor Neuron

(2012) Ke-Jun Han et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Synaptic defects in type I spinal muscular atrophy in human development

(2012) Rebeca Martínez-Hernández et al.   JOURNAL OF PATHOLOGY

A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes

(2012) Natalia N. Singh 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

The Survival Motor Neuron Protein Forms Soluble Glycine Zipper Oligomers

(2012) Renee Martin et al.   STRUCTURE

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

Cajal bodies: where form meets function

(2012) Martin Machyna et al.   Wiley Interdisciplinary Reviews-RNA

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

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

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

(2011) Cyril Jayakumar Peter 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

Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

(2011) Elisabet Dachs et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology

(2011) Mélissa Bowerman et al.   NEUROMUSCULAR DISORDERS

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

Architecture of human telomerase RNA

(2011) Q. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Movement, technology and discovery in the zebrafish

(2010) David L McLean et al.   CURRENT OPINION IN NEUROBIOLOGY

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

(2010) S. Cho et al.   GENES & DEVELOPMENT

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

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

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

(2010) F. D. Tiziano et al.   JOURNAL OF MEDICAL GENETICS

Gemin5 Delivers snRNA Precursors to the SMN Complex for snRNP Biogenesis

(2010) Jeongsik Yong et al.   MOLECULAR CELL

WRAP53 Is Essential for Cajal Body Formation and for Targeting the Survival of Motor Neuron Complex to Cajal Bodies

(2010) Salah Mahmoudi et al.   PLOS BIOLOGY

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

(2010) Maria Dimitriadi et al.   PLoS Genetics

The family of ubiquitin-conjugating enzymes (E2s): deciding between life and death of proteins

(2009) Sjoerd J. L. van Wijk et al.   FASEB JOURNAL

The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy

(2009) B. Renvoise et al.   HUMAN MOLECULAR GENETICS

Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy

(2009) Gyula Acsadi et al.   JOURNAL OF NEUROSCIENCE 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

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

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

(2008) Zhenxi Zhang et al.   CELL

Regulation of SMN Protein Stability

(2008) B. G. Burnett et al.   MOLECULAR AND CELLULAR BIOLOGY

Metabolism and regulation of canonical histone mRNAs: life without a poly(A) tail

(2008) William F. Marzluff et al.   NATURE REVIEWS GENETICS

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

(2008) G. E. Oprea et al.   SCIENCE