LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy

Modeling Motor Neuron Resilience in ALS Using Stem Cells

(2019) Ilary Allodi et al.   Stem Cell Reports

Single-cell RNA sequencing: Technical advancements and biological applications

(2018) Eva Hedlund et al.   MOLECULAR ASPECTS OF MEDICINE

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

(2017) Mohini Jangi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

(2017) Wenting Guo et al.   Nature Communications

Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy

(2017) Christian M. Simon et al.   Cell Reports

Golgi anti-apoptotic protein: a tale of camels, calcium, channels and cancer

(2017) Guia Carrara et al.   Open Biology

A role for the survival of motor neuron protein in mRNP assembly and transport

(2016) Paul G Donlin-Asp et al.   CURRENT OPINION IN NEUROBIOLOGY

Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy

(2016) Rocío Tejero 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

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

(2016) Richard S Finkel et al.   LANCET

Nigral dopaminergic PAK4 prevents neurodegeneration in rat models of Parkinsons disease

(2016) S.-Y. Won et al.   Science Translational Medicine

Laser capture microscopy coupled with Smart-seq2 for precise spatial transcriptomic profiling

(2016) Susanne Nichterwitz et al.   Nature Communications

Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS

(2016) Ilary Allodi et al.   Scientific Reports

Genome-wide RNA-Seq of Human Motor Neurons Implicates Selective ER Stress Activation in Spinal Muscular Atrophy

(2015) Shi-Yan Ng et al.   Cell Stem Cell

Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7

(2015) John F. Staropoli et al.   GENOMICS

Cross-disease comparison of amyotrophic lateral sclerosis and spinal muscular atrophy reveals conservation of selective vulnerability but differential neuromuscular junction pathology

(2015) Laura H. Comley et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

(2015) Brian N. Harding et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination

(2015) Dorothy Yanling Zhao et al.   NATURE

Motor neurons with differential vulnerability to degeneration show distinct protein signatures in health and ALS

(2015) L. Comley et al.   NEUROSCIENCE

Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn 2b/- mouse model of spinal muscular atrophy

(2015) Lyndsay M. Murray et al.   Acta Neuropathologica Communications

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Full-length RNA-seq from single cells using Smart-seq2

(2014) Simone Picelli et al.   Nature Protocols

Neuronal Matrix Metalloproteinase-9 Is a Determinant of Selective Neurodegeneration

(2014) Artem Kaplan et al.   NEURON

Neurotrophic Requirements of Human Motor Neurons Defined Using Amplified and Purified Stem Cell-Derived Cultures

(2014) Nuno Jorge Lamas et al.   PLoS One

Neurotransmitter release in motor nerve terminals of a mouse model of mild spinal muscular atrophy

(2013) Rocío Ruiz et al.   JOURNAL OF ANATOMY

A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death

(2013) Raul E. Salinas et al.   MOLECULAR BIOLOGY OF THE CELL

Smart-seq2 for sensitive full-length transcriptome profiling in single cells

(2013) Simone Picelli et al.   NATURE METHODS

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

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

(2012) Annelies Van Hoecke et al.   NATURE MEDICINE

Inhibition of Apoptosis Blocks Human Motor Neuron Cell Death in a Stem Cell Model of Spinal Muscular Atrophy

(2012) Dhruv Sareen et al.   PLoS One

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

(2012) S. Corti et al.   Science Translational Medicine

Global gene expression profiling of somatic motor neuron populations with different vulnerability identify molecules and pathways of degeneration and protection

(2011) Eva Hedlund et al.   BRAIN

Specific and integrated roles of Lmx1a, Lmx1b and Phox2a in ventral midbrain development

(2011) Qiaolin Deng et al.   DEVELOPMENT

Caldesmon Regulates Axon Extension through Interaction with Myosin II

(2011) Tsuyoshi Morita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2011) George Z. Mentis et al.   NEURON

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

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

Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric (SMN2) Gene

(2010) G.-H. Park et al.   JOURNAL OF NEUROSCIENCE

Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients

(2010) Florence Petit et al.   MUSCLE & NERVE

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

(2009) S Rudnik-Schöneborn et al.   CLINICAL GENETICS

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

(2009) Lyndsay M. Murray et al.   HUMAN MOLECULAR GENETICS

Progressive Postnatal Motoneuron Loss in Mice Lacking GDF-15

(2009) J. Strelau et al.   JOURNAL OF 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

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

(2008) Zhenxi Zhang et al.   CELL

The dark side of a tumor suppressor: anti-apoptotic p53

(2008) R U Jänicke et al.   CELL DEATH AND DIFFERENTIATION

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS