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

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

(2022) Anna-Leigh Brown et al.   NATURE

TDP-43 condensation properties specify its RNA-binding and regulatory repertoire

(2021) Martina Hallegger et al.   CELL

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

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

(2019) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

LRRK2 modifies α-syn pathology and spread in mouse models and human neurons

(2019) Gregor Bieri et al.   ACTA NEUROPATHOLOGICA

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

(2019) Peter T Nelson et al.   BRAIN

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

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

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

(2019) Aneesh Donde et al.   ACTA NEUROPATHOLOGICA

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

The Post-GWAS Era: From Association to Function

(2018) Michael D. Gallagher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis

(2018) Katerina Placek et al.   NEUROBIOLOGY OF AGING

Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology

(2018) Alissa L. Nana et al.   ACTA NEUROPATHOLOGICA

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

(2017) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

(2017) Noa Lipstein et al.   JOURNAL OF CLINICAL INVESTIGATION

Tdp-43 cryptic exons are highly variable between cell types

(2017) Yun Ha Jeong et al.   Molecular Neurodegeneration

Annotation-free quantification of RNA splicing using LeafCutter

(2017) Yang I. Li et al.   NATURE GENETICS

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

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Active zone scaffolds differentially accumulate Unc13 isoforms to tune Ca2+ channel–vesicle coupling

(2016) Mathias A Böhme et al.   NATURE NEUROSCIENCE

A new view of transcriptome complexity and regulation through the lens of local splicing variations

(2016) Jorge Vaquero-Garcia et al.   eLife

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   BIOPRESERVATION AND BIOBANKING

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

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

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

(2015) J. P. Ling et al.   SCIENCE

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

(2014) Frank P. Diekstra et al.   ANNALS OF NEUROLOGY

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

(2014) Marka van Blitterswijk et al.   Molecular Neurodegeneration

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

(2014) Yves Maury et al.   NATURE BIOTECHNOLOGY

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

(2012) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

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

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

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

(2011) Frank P. Diekstra et al.   NEUROBIOLOGY OF AGING

RIM Proteins Activate Vesicle Priming by Reversing Autoinhibitory Homodimerization of Munc13

(2011) Lunbin Deng et al.   NEURON

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

TDP-43 regulates its mRNA levels through a negative feedback loop

(2010) Youhna M Ayala et al.   EMBO JOURNAL

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

Multiplex SILAC Analysis of a Cellular TDP-43 Proteinopathy Model Reveals Protein Inclusions Associated with SUMOylation and Diverse Polyubiquitin Chains

(2010) Nicholas T. Seyfried et al.   MOLECULAR & CELLULAR PROTEOMICS

Biases in Illumina transcriptome sequencing caused by random hexamer priming

(2010) Kasper D. Hansen et al.   NUCLEIC ACIDS RESEARCH

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

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA