GEMINs: potential therapeutic targets for spinal muscular atrophy?

Gem Depletion: Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy Crossover

(2014) Ruben J. Cauchi   CNS Neuroscience & Therapeutics

Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy

(2014) Pádraig J. Mulcahy et al.   HUMAN GENE THERAPY

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

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

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

(2014) Shingo Kariya et al.   JOURNAL OF CLINICAL INVESTIGATION

A day in the life of the spliceosome

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

The Gemin Associates of Survival Motor Neuron Are Required for Motor Function in Drosophila

(2014) Rebecca Borg et al.   PLoS One

Diverse Expression of Selected SMN Complex Proteins in Humans with Sporadic Amyotrophic Lateral Sclerosis and in a Transgenic Rat Model of Familial Form of the Disease

(2014) Janina Rafałowska et al.   PLoS One

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

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

Spinal muscular atrophy: An update on therapeutic progress

(2013) Joonbae Seo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice

(2013) Haiyan Zhou et al.   HUMAN GENE THERAPY

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

(2013) Rocky G. Gogliotti et al.   HUMAN MOLECULAR GENETICS

The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models

(2013) M. Dimitriadi et al.   JOURNAL OF NEUROSCIENCE

Splicing therapy for neuromuscular disease

(2013) Andrew G.L. Douglas et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Structural Basis of Assembly Chaperone- Mediated snRNP Formation

(2013) Clemens Grimm et al.   MOLECULAR CELL

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

Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes

(2013) E. L. Garcia et al.   RNA

Antisense oligonucleotide mediated therapy of spinal muscular atrophy

(2013) Senthilkumar Sivanesan et al.   Translational Neuroscience

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

(2012) Melissa Bowerman et al.   BMC Medicine

Spinal muscular atrophy: The role of SMN in axonal mRNA regulation

(2012) Claudia Fallini et al.   BRAIN RESEARCH

Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy

(2012) Eileen Workman et al.   BRAIN RESEARCH

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

(2012) Francesco Lotti et al.   CELL

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach 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

T.P.7 Small molecule compounds correct alternative splicing of the SMN2 gene and restore SMN protein expression and function

(2012) N. Naryshkin et al.   NEUROMUSCULAR DISORDERS

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

A Drosophila Model of Spinal Muscular Atrophy Uncouples snRNP Biogenesis Functions of Survival Motor Neuron from Locomotion and Viability Defects

(2012) Kavita Praveen et al.   Cell Reports

Invertebrate models of spinal muscular atrophy: Insights into mechanisms and potential therapeutics

(2011) Stuart J. Grice et al.   BIOESSAYS

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

(2011) Rundong Zhang et al.   CELL

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

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

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le et al.   HUMAN MOLECULAR GENETICS

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

(2011) Paul N. Porensky et al.   HUMAN MOLECULAR GENETICS

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

(2011) Cathleen M. Lutz et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2011) Yimin Hua et al.   NATURE

SMN and Gemins: ‘We are family’ … or are we?

(2010) Ruben J. Cauchi   BIOESSAYS

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient

(2010) Nawal Boulisfane et al.   HUMAN MOLECULAR GENETICS

Gemin5 Delivers snRNA Precursors to the SMN Complex for snRNP Biogenesis

(2010) Jeongsik Yong et al.   MOLECULAR CELL

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

The DEAD-box protein MEL-46 is required in the germ line of the nematode Caenorhabditis elegans

(2009) Ryuji Minasaki et al.   BMC DEVELOPMENTAL BIOLOGY

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

(2009) Eileen Workman et al.   HUMAN MOLECULAR GENETICS

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

Gemin5-snRNA interaction reveals an RNA binding function for WD repeat domains

(2009) Chi-kong Lau et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2009) Dirk Bäumer et al.   PLoS Genetics

DcpS as a Therapeutic Target for Spinal Muscular Atrophy

(2008) Jasbir Singh et al.   ACS Chemical Biology

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

(2008) Zhenxi Zhang et al.   CELL

DEAD-Box Protein-103 (DP103, Ddx20) Is Essential for Early Embryonic Development and Modulates Ovarian Morphology and Function

(2008) Jean-François Mouillet et al.   ENDOCRINOLOGY

Gemin3 Is an Essential Gene Required for Larval Motor Function and Pupation in Drosophila

(2008) Karl B. Shpargel et al.   MOLECULAR BIOLOGY OF THE CELL

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

A Motor Function for the DEAD-Box RNA Helicase, Gemin3, in Drosophila

(2008) Ruben J. Cauchi et al.   PLoS Genetics

The SMN binding protein gemin2 is not involved in motor axon outgrowth

(2007) Michelle L. McWhorter et al.   Developmental Neurobiology