Brain Cell Type-Specific Nuclear Proteomics Is Imperative to Resolve Neurodegenerative Disease Mechanisms

Large-scale deep multi-layer analysis of Alzheimer’s disease brain reveals strong proteomic disease-related changes not observed at the RNA level

(2022) Erik C. B. Johnson et al.   NATURE NEUROSCIENCE

Reactive astrocytes acquire neuroprotective as well as deleterious signatures in response to Tau and Aß pathology

(2022) Zoeb Jiwaji et al.   Nature Communications

Ubiquitin signalling in neurodegeneration: mechanisms and therapeutic opportunities

(2021) Marlene F. Schmidt et al.   CELL DEATH AND DIFFERENTIATION

Nuclei isolation of multiple brain cell types for omics interrogation

(2021) Alexi Nott et al.   Nature Protocols

Nuclear Ubiquitin-Proteasome Pathways in Proteostasis Maintenance

(2021) Dina Franić et al.   Biomolecules

Microglial identity and inflammatory responses are controlled by the combined effects of neurons and astrocytes

(2021) Paul S. Baxter et al.   Cell Reports

FDA Approval of Aduhelm Paves a New Path for Alzheimer’s Disease

(2021) Rudolph E. Tanzi   ACS Chemical Neuroscience

Phase separation and toxicity of C9orf72 poly(PR) depends on alternate distribution of arginine

(2021) Chen Chen et al.   JOURNAL OF CELL BIOLOGY

Sublayer- and cell-type-specific neurodegenerative transcriptional trajectories in hippocampal sclerosis

(2021) Elena Cid et al.   Cell Reports

Meta-analysis of human and mouse ALS astrocytes reveals multi-omic signatures of inflammatory reactive states

(2021) Oliver J. Ziff et al.   GENOME RESEARCH

Astrocytes and Microglia: In Sickness and in Health

(2020) Ilia D. Vainchtein et al.   TRENDS IN NEUROSCIENCES

Microglia Heterogeneity in the Single-Cell Era

(2020) Takahiro Masuda et al.   Cell Reports

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2020) Yevgeniya A. Abramzon et al.   Frontiers in Neuroscience

Molecular Signatures of Neuroinflammation Induced by αSynuclein Aggregates in Microglial Cells

(2020) Souvarish Sarkar et al.   Frontiers in Immunology

Flow-cytometric microglial sorting coupled with quantitative proteomics identifies moesin as a highly-abundant microglial protein with relevance to Alzheimer’s disease

(2020) Sruti Rayaprolu et al.   Molecular Neurodegeneration

Large-scale proteomic analysis of Alzheimer’s disease brain and cerebrospinal fluid reveals early changes in energy metabolism associated with microglia and astrocyte activation

(2020) Erik C. B. Johnson et al.   NATURE MEDICINE

Role of Nucleoporins and Transport Receptors in Cell Differentiation

(2020) Asmat Ullah Khan et al.   Frontiers in Physiology

Identification of Conserved Proteomic Networks in Neurodegenerative Dementia

(2020) Vivek Swarup et al.   Cell Reports

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

(2020) Terry R. Suk et al.   Molecular Neurodegeneration

The Parkinson's Disease Genome‐Wide Association Study Locus Browser

(2020) Francis P. Grenn et al.   MOVEMENT DISORDERS

Systems-based proteomics to resolve the biology of Alzheimer’s disease beyond amyloid and tau

(2020) Sruti Rayaprolu et al.   NEUROPSYCHOPHARMACOLOGY

Single-nucleus transcriptome analysis reveals dysregulation of angiogenic endothelial cells and neuroprotective glia in Alzheimer’s disease

(2020) Shun-Fat Lau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Astrocytes in Tauopathies

(2020) Matthew J. Reid et al.   Frontiers in Neurology

Nuclear Transport Deficits in Tau-Related Neurodegenerative Diseases

(2020) Lisa Diez et al.   Frontiers in Neurology

Integrated proteomics reveals brain-based cerebrospinal fluid biomarkers in asymptomatic and symptomatic Alzheimer’s disease

(2020) Lenora Higginbotham et al.   Science Advances

Oligodendrocyte Physiology and Pathology Function

(2020) Markus Kipp   Cells

Neuroinflammation in neurodegenerative disorders: the roles of microglia and astrocytes

(2020) Hyuk Sung Kwon et al.   Translational Neurodegeneration

Tau and DNA Damage in Neurodegeneration

(2020) Luca Colnaghi et al.   Brain Sciences

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

(2019) Iris E. Jansen et al.   NATURE GENETICS

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis

(2019) Archana Prasad et al.   Frontiers in Molecular Neuroscience

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

(2019) Brian W. Kunkle et al.   NATURE GENETICS

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

(2019) Peter T Nelson et al.   BRAIN

Spatial chromatin organization and gene regulation at the nuclear lamina

(2019) Isabel Guerreiro et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Sex-specific Tau methylation patterns and synaptic transcriptional alterations are associated with neural vulnerability during chronic neuroinflammation

(2019) Alessandro Didonna et al.   JOURNAL OF AUTOIMMUNITY

Single-cell transcriptomic analysis of Alzheimer’s disease

(2019) Hansruedi Mathys et al.   NATURE

Splicing repression is a major function of TDP-43 in motor neurons

(2019) Aneesh Donde et al.   ACTA NEUROPATHOLOGICA

Nucleocytoplasmic transport defects in neurodegeneration — Cause or consequence?

(2019) Saskia Hutten et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The neuropathological diagnosis of Alzheimer’s disease

(2019) Michael A. DeTure et al.   Molecular Neurodegeneration

Chromosome Instability in the Neurodegenerating Brain

(2019) Yuri B. Yurov et al.   Frontiers in Genetics

Tau-Mediated Disruption of the Spliceosome Triggers Cryptic RNA Splicing and Neurodegeneration in Alzheimer’s Disease

(2019) Yi-Chen Hsieh et al.   Cell Reports

Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders

(2019) Huntington Potter et al.   Frontiers in Genetics

Low-complexity domain of U1-70K modulates phase separation and aggregation through distinctive basic-acidic motifs

(2019) Song Xue et al.   Science Advances

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

Towards a TDP-43-Based Biomarker for ALS and FTLD

(2018) Emily Feneberg et al.   MOLECULAR NEUROBIOLOGY

Quantitative proteomics of acutely-isolated mouse microglia identifies novel immune Alzheimer’s disease-related proteins

(2018) Srikant Rangaraju et al.   Molecular Neurodegeneration

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

(2018) Ching-Chieh Chou et al.   NATURE NEUROSCIENCE

Mass cytometry analysis of immune cells in the brain

(2018) Ben Korin et al.   Nature Protocols

Nanodroplet processing platform for deep and quantitative proteome profiling of 10–100 mammalian cells

(2018) Ying Zhu et al.   Nature Communications

TDP-43 regulation of stress granule dynamics in neurodegenerative disease-relevant cell types

(2018) Yousra Khalfallah et al.   Scientific Reports

Phospho-Tau Bar Code: Analysis of Phosphoisotypes of Tau and Its Application to Tauopathy

(2018) Taeko Kimura et al.   Frontiers in Neuroscience

Mutations in MAPT Gene Cause Chromosome Instability and Introduce Copy Number Variations Widely in the Genome

(2018) Giacomina Rossi et al.   JOURNAL OF ALZHEIMERS DISEASE

Hyperphosphorylation Results in Tau Dysfunction in DNA Folding and Protection

(2018) Yang Lu et al.   JOURNAL OF ALZHEIMERS DISEASE

Variation among intact tissue samples reveals the core transcriptional features of human CNS cell classes

(2018) Kevin W. Kelley et al.   NATURE NEUROSCIENCE

Microglia in neurodegeneration

(2018) Suzanne Hickman et al.   NATURE NEUROSCIENCE

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer’s Disease

(2018) Bahareh Eftekharzadeh et al.   NEURON

RNA binding proteins co-localize with small tau inclusions in tauopathy

(2018) Brandon F. Maziuk et al.   Acta Neuropathologica Communications

Deep proteomic network analysis of Alzheimer’s disease brain reveals alterations in RNA binding proteins and RNA splicing associated with disease

(2018) Erik C. B. Johnson et al.   Molecular Neurodegeneration

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

(2018) Jone López-Erauskin et al.   NEURON

Hyperphosphorylation of Tau Associates With Changes in Its Function Beyond Microtubule Stability

(2018) Alejandra D. Alonso et al.   Frontiers in Cellular Neuroscience

TDP-43 and FUS en route from the nucleus to the cytoplasm

(2017) Helena Ederle et al.   FEBS LETTERS

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

(2017) Erin G. Conlon et al.   GENES & DEVELOPMENT

Genetic mutations in RNA-binding proteins and their roles in ALS

(2017) Katannya Kapeli et al.   HUMAN GENETICS

Reactive Astrocytes: Production, Function, and Therapeutic Potential

(2017) Shane A. Liddelow et al.   IMMUNITY

Karyopherins regulate nuclear pore complex barrier and transport function

(2017) Larisa E. Kapinos et al.   JOURNAL OF CELL BIOLOGY

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

(2017) Davina J Hensman Moss et al.   LANCET NEUROLOGY

Reducing the RNA binding protein TIA1 protects against tau-mediated neurodegeneration in vivo

(2017) Daniel J. Apicco et al.   NATURE NEUROSCIENCE

Comparative transcriptomics in human and mouse

(2017) Alessandra Breschi et al.   NATURE REVIEWS GENETICS

Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport

(2017) Fatima Gasset-Rosa et al.   NEURON

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

Mutant Huntingtin Disrupts the Nuclear Pore Complex

(2017) Jonathan C. Grima et al.   NEURON

Nuclear speckles: molecular organization, biological function and role in disease

(2017) Lukasz Galganski et al.   NUCLEIC ACIDS RESEARCH

The Role of Astrocyte Dysfunction in Parkinson’s Disease Pathogenesis

(2017) Heather D.E. Booth et al.   TRENDS IN NEUROSCIENCES

RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response

(2017) Katelyn M. Green et al.   Nature Communications

Association of Amyloid Pathology With Myelin Alteration in Preclinical Alzheimer Disease

(2017) Douglas C. Dean et al.   JAMA Neurology

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

(2017) Tom Shani et al.   Jove-Journal of Visualized Experiments

A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer’s Disease

(2017) Nicholas T. Seyfried et al.   Cell Systems

Tau mis-splicing in the pathogenesis of neurodegenerative disorders

(2016) Sun Ah Park et al.   BMB Reports

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

(2016) Jun Sone et al.   BRAIN

The Prevalence and Incidence of Frontotemporal Dementia: a Systematic Review

(2016) David B. Hogan et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

The Cellular Phase of Alzheimer’s Disease

(2016) Bart De Strooper et al.   CELL

Drug treatments in Alzheimers disease

(2016) R. Briggs et al.   CLINICAL MEDICINE

Cell type-specific transcriptome profiling in mammalian brains

(2016) Feng Cui   Frontiers in Bioscience-Landmark

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

(2016) Dena G. Hernandez et al.   JOURNAL OF NEUROCHEMISTRY

The antibody aducanumab reduces Aβ plaques in Alzheimer’s disease

(2016) Jeff Sevigny et al.   NATURE

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Spatiotemporal dynamics of the nuclear pore complex transport barrier resolved by high-speed atomic force microscopy

(2016) Yusuke Sakiyama et al.   Nature Nanotechnology

A molecular mechanism realizing sequence-specific recognition of nucleic acids by TDP-43

(2016) Yoshiaki Furukawa et al.   Scientific Reports

DJ-1 deficiency impairs glutamate uptake into astrocytes via the regulation of flotillin-1 and caveolin-1 expression

(2016) Jin-Mo Kim et al.   Scientific Reports

Recent global trends in the prevalence and incidence of dementia, and survival with dementia

(2016) Martin Prince et al.   Alzheimers Research & Therapy

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

(2016) Steven Boeynaems et al.   Scientific Reports

Mobility and subcellular localization of endogenous, gene-edited Tau differs from that of over-expressed human wild-type and P301L mutant Tau

(2016) Di Xia et al.   Scientific Reports

Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy

(2015) Gabor G. Kovacs et al.   ACTA NEUROPATHOLOGICA

The effect of white matter hyperintensities on neurodegeneration in mild cognitive impairment

(2015) Giuseppe Tosto et al.   Alzheimers & Dementia

A comparison of human and mouse gene co-expression networks reveals conservation and divergence at the tissue, pathway and disease levels

(2015) Gianni Monaco et al.   BMC EVOLUTIONARY BIOLOGY

Altered Machinery of Protein Synthesis in Alzheimer's: From the Nucleolus to the Ribosome

(2015) Karina Hernández-Ortega et al.   BRAIN PATHOLOGY

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Amyloid Precursor Protein (APP) Metabolites APP Intracellular Fragment (AICD), Aβ42, and Tau in Nuclear Roles

(2015) Gerhard Multhaup et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Selective loss of dopaminergic neurons in the substantia nigra pars compacta after systemic administration of MPTP facilitates extinction learning

(2015) Ken-ichi Kinoshita et al.   LIFE SCIENCES

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Cell type– and brain region–resolved mouse brain proteome

(2015) Kirti Sharma et al.   NATURE NEUROSCIENCE

Astrocytes in Neurodegenerative Disease: Table 1.

(2015) Hemali Phatnani et al.   Cold Spring Harbor Perspectives in Biology

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

Epigenetics and Triplet-Repeat Neurological Diseases

(2015) Sathiji Nageshwaran et al.   Frontiers in Neurology

Multistep process of FUS aggregation in the cell cytoplasm involves RNA-dependent and RNA-independent mechanisms

(2014) Tatyana A. Shelkovnikova et al.   HUMAN MOLECULAR GENETICS

Aggregation Properties of the Small Nuclear Ribonucleoprotein U1-70K in Alzheimer Disease

(2014) Ian Diner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

A census of human RNA-binding proteins

(2014) Stefanie Gerstberger et al.   NATURE REVIEWS GENETICS

Functional organization and dynamics of the cell nucleus

(2014) Tongtong Guo et al.   Frontiers in Plant Science

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy

(2014) Marie-Laure Caillet-Boudin et al.   Frontiers in Molecular Neuroscience

The global prevalence of dementia: A systematic review and metaanalysis

(2013) Martin Prince et al.   Alzheimers & Dementia

Genome Instability and Aging

(2013) Jan Vijg et al.   Annual Review of Physiology

DJ-1 Associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes

(2013) Kwang Soo Kim et al.   HUMAN MOLECULAR GENETICS

Neuron Enriched Nuclear Proteome Isolated from Human Brain

(2013) Eric B. Dammer et al.   JOURNAL OF PROTEOME RESEARCH

Assessing the Subcellular Dynamics of Alpha-synuclein Using Photoactivation Microscopy

(2013) Susana Gonçalves et al.   MOLECULAR NEUROBIOLOGY

Cell type-specific nuclear pores: a case in point for context-dependent stoichiometry of molecular machines

(2013) A. Ori et al.   Molecular Systems Biology

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Evolving Concepts of Gliogenesis: A Look Way Back and Ahead to the Next 25 Years

(2013) Marc R. Freeman et al.   NEURON

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Intricate interplay between astrocytes and motor neurons in ALS

(2013) H. P. Phatnani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

U1 small nuclear ribonucleoprotein complex and RNA splicing alterations in Alzheimer's disease

(2013) B. Bai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanisms of RNA-induced toxicity in CAG repeat disorders

(2013) R Nalavade et al.   Cell Death & Disease

GO-Elite: a flexible solution for pathway and ontology over-representation

(2012) Alexander C. Zambon et al.   BIOINFORMATICS

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS

(2012) Dorothee Dormann et al.   EMBO JOURNAL

Genomic Analysis of Reactive Astrogliosis

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

Epigenetics in Nucleotide Repeat Expansion Disorders

(2012) Fang He et al.   SEMINARS IN NEUROLOGY

The DNA Replication Stress Hypothesis of Alzheimer’s Disease

(2012) Yuri B. Yurov et al.   TheScientificWorldJOURNAL

Dynamics and diverse functions of nuclear pore complex proteins

(2012) Guillaume Chatel et al.   Nucleus

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Corticobasal degeneration: a pathologically distinct 4R tauopathy

(2011) Naomi Kouri et al.   Nature Reviews Neurology

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

DNA repair deficiency in neurodegeneration

(2011) Dennis Kjølhede Jeppesen et al.   PROGRESS IN NEUROBIOLOGY

Compartmentalization of the nucleus

(2011) Lauren Meldi et al.   TRENDS IN CELL BIOLOGY

Soluble hyper-phosphorylated tau causes microtubule breakdown and functionally compromises normal tau in vivo

(2010) Catherine M. Cowan et al.   ACTA NEUROPATHOLOGICA

Selective Cell Death of Hyperploid Neurons in Alzheimer’s Disease

(2010) Thomas Arendt et al.   AMERICAN JOURNAL OF PATHOLOGY

Eukaryotic Chromosome DNA Replication: Where, When, and How?

(2010) Hisao Masai et al.   Annual Review of Biochemistry

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

Tau Mislocalization to Dendritic Spines Mediates Synaptic Dysfunction Independently of Neurodegeneration

(2010) Brian R. Hoover et al.   NEURON

Pathogenic mechanisms of myotonic dystrophy

(2009) Johanna E. Lee et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

(2009) Eran Eden et al.   BMC BIOINFORMATICS

Alzheimer's disease as homeostatic responses to age-related myelin breakdown

(2009) George Bartzokis   NEUROBIOLOGY OF AGING

Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: Differential expression and pathological meaning

(2009) Ivan Y. Iourov et al.   NEUROBIOLOGY OF DISEASE

Mutations in FUS cause FALS and SALS in French and French Canadian populations

(2009) V. V. Belzil et al.   NEUROLOGY

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2008) Masato Hasegawa et al.   ANNALS OF NEUROLOGY

A new role of the rDNA and nucleolus in the nucleus—rDNA instability maintains genome integrity

(2008) Takehiko Kobayashi   BIOESSAYS

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS

(2008) Yuki Inukai et al.   FEBS LETTERS

Neuronal cell death in neurodegenerative diseases: recurring themes around protein handling

(2008) Adrienne M. Gorman   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy

(2008) J. P. Orengo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE