Single-cell RNA sequencing reveals dysregulation of spinal cord cell types in a severe spinal muscular atrophy mouse model

A human brain vascular atlas reveals diverse mediators of Alzheimer’s risk

(2022) Andrew C. Yang et al.   NATURE

Single-cell dissection of the human brain vasculature

(2022) Francisco J. Garcia et al.   NATURE

Survival motor neuron protein deficiency alters microglia reactivity

(2022) Guzal Khayrullina et al.   GLIA

Spinal Muscular Atrophy: In the Challenge Lies a Solution

(2021) Brunhilde Wirth   TRENDS IN NEUROSCIENCES

Single-cell transcriptomic analysis of the adult mouse spinal cord reveals molecular diversity of autonomic and skeletal motor neurons

(2021) Jacob A. Blum et al.   NATURE NEUROSCIENCE

CNS fibroblasts form a fibrotic scar in response to immune cell infiltration

(2021) Cayce E. Dorrier et al.   NATURE NEUROSCIENCE

Inference and analysis of cell-cell communication using CellChat

(2021) Suoqin Jin et al.   Nature Communications

Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients

(2021) Laura Bianchi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Single-Nucleus RNA-Seq Reveals Dysregulation of Striatal Cell Identity Due to Huntington’s Disease Mutations

(2021) Sonia Malaiya et al.   JOURNAL OF NEUROSCIENCE

Altered perivascular fibroblast activity precedes ALS disease onset

(2021) Anna Månberg et al.   NATURE MEDICINE

Metabolic Dysfunction in Spinal Muscular Atrophy

(2021) Marc-Olivier Deguise et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Emerging roles for CNS fibroblasts in health, injury and disease

(2021) Cayce E. Dorrier et al.   NATURE REVIEWS NEUROSCIENCE

A novel fatty acid-binding protein 5 and 7 inhibitor ameliorates oligodendrocyte injury in multiple sclerosis mouse models

(2021) An Cheng et al.   EBioMedicine

The fatty acid binding protein FABP7 is required for optimal oligodendrocyte differentiation during myelination but not during remyelination

(2020) Sarah Foerster et al.   GLIA

Overturning the Paradigm of Spinal Muscular Atrophy as just a Motor Neuron Disease

(2020) Crystal Jing Jing Yeo et al.   PEDIATRIC NEUROLOGY

Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease?

(2020) Elena Abati et al.   NEUROBIOLOGY OF DISEASE

Single-cell RNA-seq analysis of the brainstem of mutant SOD1 mice reveals perturbed cell types and pathways of amyotrophic lateral sclerosis

(2020) Wenting Liu et al.   NEUROBIOLOGY OF DISEASE

Risdiplam: First Approval

(2020) Sohita Dhillon   DRUGS

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

(2020) Susanne Nichterwitz et al.   GENOME RESEARCH

ApoE Lipidation as a Therapeutic Target in Alzheimer’s Disease

(2020) Maria Fe Lanfranco et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Astrocyte Reactivity: Subtypes, States, and Functions in CNS Innate Immunity

(2020) Michael V. Sofroniew   TRENDS IN IMMUNOLOGY

Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models

(2020) Stefan Hauser et al.   Frontiers in Cell and Developmental Biology

The Expanding Cell Diversity of the Brain Vasculature

(2020) Jayden M. Ross et al.   Frontiers in Physiology

Impairment of oligodendrocyte lineages in spinal muscular atrophy model systems

(2019) Kazuki Ohuchi et al.   NEUROREPORT

Altered human oligodendrocyte heterogeneity in multiple sclerosis

(2019) Sarah Jäkel et al.   NATURE

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

Onasemnogene Abeparvovec: First Global Approval

(2019) Sheridan M. Hoy   DRUGS

Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies

(2019) Yu Yamazaki et al.   Nature Reviews Neurology

Myelin in the Central Nervous System: Structure, Function, and Pathology

(2019) Christine Stadelmann et al.   PHYSIOLOGICAL REVIEWS

A single-cell atlas of entorhinal cortex from individuals with Alzheimer’s disease reveals cell-type-specific gene expression regulation

(2019) Alexandra Grubman et al.   NATURE NEUROSCIENCE

scTIM: seeking cell-type-indicative marker from single cell RNA-seq data by consensus optimization

(2019) Zhanying Feng et al.   BIOINFORMATICS

The Classical Complement Pathway Mediates Microglia-Dependent Remodeling of Spinal Motor Circuits during Development and in SMA

(2019) Aleksandra Vukojicic et al.   Cell Reports

Chemerin: a multifaceted adipokine involved in metabolic disorders

(2018) Gisela Helfer et al.   JOURNAL OF ENDOCRINOLOGY

Normal aging induces A1-like astrocyte reactivity

(2018) Laura E. Clarke et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular Architecture of the Mouse Nervous System

(2018) Amit Zeisel et al.   CELL

Association of Lower Hemoglobin Level and Neuropathology in Community-Dwelling Older Persons

(2018) Raj C. Shah et al.   JOURNAL OF ALZHEIMERS DISEASE

A molecular atlas of cell types and zonation in the brain vasculature

(2018) Michael Vanlandewijck et al.   NATURE

The role of brain vasculature in neurodegenerative disorders

(2018) Melanie D. Sweeney et al.   NATURE NEUROSCIENCE

Microglia in neurodegeneration

(2018) Suzanne Hickman et al.   NATURE NEUROSCIENCE

Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration

(2018) Alban Latremoliere et al.   Cell Reports

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

(2018) Federica Rizzo et al.   BRAIN

Glia as architects of central nervous system formation and function

(2018) Nicola J. Allen et al.   SCIENCE

Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy

(2017) Samantha L. Sison et al.   HUMAN MOLECULAR GENETICS

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy

(2017) Xingxing Wu et al.   HUMAN MOLECULAR GENETICS

Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion

(2017) Jasmin E. Martin et al.   JOURNAL OF NEUROSCIENCE

Neurotoxic reactive astrocytes are induced by activated microglia

(2017) Shane A. Liddelow et al.   NATURE

Reversed graph embedding resolves complex single-cell trajectories

(2017) Xiaojie Qiu et al.   NATURE METHODS

Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy

(2017) David R Corey   NATURE NEUROSCIENCE

Identification of Intrinsic Axon Growth Modulators for Intact CNS Neurons after Injury

(2017) Kathren L. Fink et al.   Cell Reports

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

(2016) Eilidh Somers et al.   ANNALS OF NEUROLOGY

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

Neuronal Hemoglobin Expression and Its Relevance to Multiple Sclerosis Neuropathology

(2016) Nolan Brown et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Defects in Motoneuron–Astrocyte Interactions in Spinal Muscular Atrophy

(2016) Chunyi Zhou et al.   JOURNAL OF NEUROSCIENCE

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

(2016) Thomas Koed Doktor et al.   NUCLEIC ACIDS RESEARCH

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

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

(2015) Yimin Hua et al.   GENES & DEVELOPMENT

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

Astrocytes influence the severity of spinal muscular atrophy

(2015) Hansjörg Rindt et al.   HUMAN MOLECULAR GENETICS

HISAT: a fast spliced aligner with low memory requirements

(2015) Daehwan Kim et al.   NATURE METHODS

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

Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins

(2015) Qing Huo et al.   RNA Biology

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Mechanisms Involved in Spinal Cord Central Synapse Loss in a Mouse Model of Spinal Muscular Atrophy

(2014) Olga Tarabal et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem Cells

(2014) Miho Maeda et al.   PLoS One

Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production

(2013) Jered V. McGivern et al.   GLIA

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

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

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

Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy

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

Genomic Analysis of Reactive Astrogliosis

(2012) J. L. Zamanian et al.   JOURNAL OF NEUROSCIENCE

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

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

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

(2011) K. K. Y. Ling et al.   HUMAN MOLECULAR GENETICS

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

(2011) Yimin Hua et al.   NATURE

Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy

(2011) E. Somers et al.   NEUROMUSCULAR DISORDERS

SMN in spinal muscular atrophy and snRNP biogenesis

(2011) Tristan H. Coady et al.   Wiley Interdisciplinary Reviews-RNA

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

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

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

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

(2010) Karen K. Y. Ling et al.   PLoS One

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN 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

Neurons express hemoglobin α- and β-chains in rat and human brains

(2009) Franziska Richter et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

(2009) Alexandra prufer de Queiroz Campos Araujo et al.   JOURNAL OF PEDIATRICS

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

Expression of Hemoglobin in Rodent Neurons

(2008) Dominik W Schelshorn et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

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

(2008) G. E. Oprea et al.   SCIENCE