The era of cryptic exons: implications for ALS-FTD

New antisense oligonucleotide therapies reach first base in ALS

(2022) Elia R. Lopez et al.   NATURE MEDICINE

Loss of TDP-43 function and rimmed vacuoles persist after T cell depletion in a xenograft model of sporadic inclusion body myositis

(2022) Kyla A. Britson et al.   Science Translational Medicine

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

(2022) Anna-Leigh Brown et al.   NATURE

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

(2022) X. Rosa Ma et al.   NATURE

Loss of mouse Stmn2 function causes motor neuropathy

(2022) Irune Guerra San Juan et al.   NEURON

Stage-specific control of oligodendrocyte survival and morphogenesis by TDP-43

(2022) Dongeun Heo et al.   eLife

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

(2022) Urša Šušnjar et al.   Communications Biology

TDP-43 drives synaptic and cognitive deterioration following traumatic brain injury

(2022) Fei Gao et al.   ACTA NEUROPATHOLOGICA

Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

(2022) Gökçe Eser et al.   Genes

Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2022) Timothy M. Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

pTDP ‐43 aggregates accumulate in non‐central nervous system tissues prior to symptom onset in amyotrophic lateral sclerosis: a case series linking archival surgical biopsies with clinical phenotypic data

(2022) Samuel B Pattle et al.   Journal of Pathology Clinical Research

U7 snRNA: A tool for gene therapy

(2021) Ankur Gadgil et al.   JOURNAL OF GENE MEDICINE

Risdiplam, the First Approved Small Molecule Splicing Modifier Drug as a Blueprint for Future Transformative Medicines

(2021) Hasane Ratni et al.   ACS Medicinal Chemistry Letters

Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit

(2021) Meaghan Van Alstyne et al.   NATURE NEUROSCIENCE

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

(2021) Basil T. Darras et al.   NEW ENGLAND JOURNAL OF MEDICINE

Promise of Nucleic Acid Therapeutics for Amyotrophic Lateral Sclerosis

(2021) Daisuke Ito   ANNALS OF NEUROLOGY

Phosphorylated TDP-43 aggregates in peripheral motor nerves of patients with amyotrophic lateral sclerosis

(2021) Nilo Riva et al.   BRAIN

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

(2020) Harold H. G. Tan et al.   ANNALS OF NEUROLOGY

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

(2020) Mercedes Prudencio et al.   JOURNAL OF CLINICAL INVESTIGATION

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

Loss of Nuclear TDP-43 Is Associated with Decondensation of LINE Retrotransposons

(2019) Elaine Y. Liu et al.   Cell Reports

UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis

(2019) Baiyuan Yang et al.   NEUROLOGICAL SCIENCES

Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model

(2019) Lien Nguyen et al.   NEURON

CRYPTIC EXON SPLICING FUNCTION OF TARDBP INTERACTS WITH AUTOPHAGY IN NERVOUS TISSUE

(2018) Pascual Torres et al.   Autophagy

Transcriptome Engineering with RNA-Targeting Type VI-D CRISPR Effectors

(2018) Silvana Konermann et al.   CELL

Reversible induction of TDP-43 granules in cortical neurons after traumatic injury

(2018) Diana Wiesner et al.   EXPERIMENTAL NEUROLOGY

CSF neurofilament proteins as diagnostic and prognostic biomarkers for amyotrophic lateral sclerosis

(2018) Daniela Rossi et al.   JOURNAL OF NEUROLOGY

Principles for targeting RNA with drug-like small molecules

(2018) Katherine Deigan Warner et al.   NATURE REVIEWS DRUG DISCOVERY

UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis

(2018) Katerina Placek et al.   NEUROBIOLOGY OF AGING

Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis

(2018) Federico Verde et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Tdp-43 cryptic exons are highly variable between cell types

(2017) Yun Ha Jeong et al.   Molecular Neurodegeneration

Urinary p75 ECD

(2017) Stephanie R. Shepheard et al.   NEUROLOGY

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

(2017) Tania F. Gendron et al.   Science Translational Medicine

Timing and significance of pathological features inC9orf72expansion-associated frontotemporal dementia

(2016) Sarat C. Vatsavayai et al.   BRAIN

Eteplirsen: First Global Approval

(2016) Yahiya Y. Syed   DRUGS

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

(2016) Benjamin Gaastra et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins

(2016) S. Prpar Mihevc et al.   Scientific Reports

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor

(2015) Fatemeh Mohagheghi et al.   HUMAN MOLECULAR GENETICS

UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort

(2015) Jose Manuel Vidal-Taboada et al.   JOURNAL OF NEUROLOGY

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

(2015) Søren Lykke-Andersen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Traumatic brain injury causes frontotemporal dementia and TDP-43 proteolysis

(2015) H.-K. Wang et al.   NEUROSCIENCE

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Oligodendroglial Response in the Spinal Cord in TDP-43 Proteinopathy with Motor Neuron Involvement

(2014) Zdenek Rohan et al.   Neurodegenerative Diseases

Noninvasive in vivo monitoring of tissue-specific global gene expression in humans

(2014) W. Koh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS

(2012) Atsushi Shiga et al.   PLoS One

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

(2012) M. Prudencio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

TDP-43 regulates global translational yield by splicing of exon junction complex component SKAR

(2011) Fabienne C. Fiesel et al.   NUCLEIC ACIDS RESEARCH

Nuclear factor TDP-43 can affect selected microRNA levels

(2010) Emanuele Buratti et al.   FEBS Journal

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: Implications for TDP-43 in the physiological response to neuronal injury

(2008) Katie Moisse et al.   BRAIN RESEARCH

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE