Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation

Low molecular weight species of TDP-43 generated by abnormal splicing form inclusions in amyotrophic lateral sclerosis and result in motor neuron death

(2015) Shangxi Xiao et al.   ACTA NEUROPATHOLOGICA

Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations

(2015) M. J. Finelli et al.   HUMAN MOLECULAR GENETICS

The cleavage pattern of TDP-43 determines its rate of clearance and cytotoxicity

(2015) Quan Li et al.   Nature Communications

Metabolism and mis-metabolism of the neuropathological signature protein TDP-43

(2014) C.-C. Huang et al.   JOURNAL OF CELL SCIENCE

The crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids

(2014) P.-H. Kuo et al.   NUCLEIC ACIDS RESEARCH

Disease causing mutants of TDP-43 nucleic acid binding domains are resistant to aggregation and have increased stability and half-life

(2014) J. A. Austin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular mechanism of the intramembrane cleavage of the β-carboxyl terminal fragment of amyloid precursor protein by γ-secretase

(2014) Maho Morishima-Kawashima   Frontiers in Physiology

The Truncated C-terminal RNA Recognition Motif of TDP-43 Protein Plays a Key Role in Forming Proteinaceous Aggregates

(2013) Yi-Ting Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Amyotrophic lateral sclerosis: an update on recent genetic insights

(2013) Yohei Iguchi et al.   JOURNAL OF NEUROLOGY

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

(2013) Peter J Lukavsky et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The genetics and neuropathology of Alzheimer’s disease

(2012) Gerard D. Schellenberg et al.   ACTA NEUROPATHOLOGICA

Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins

(2012) Shoji Watanabe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel TARDBP mutations in Nordic ALS patients

(2012) Huei-Hsin Chiang et al.   JOURNAL OF HUMAN GENETICS

Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

(2012) Zhang-Yu Zou et al.   NEUROBIOLOGY OF AGING

A role for calpain-dependent cleavage of TDP-43 in amyotrophic lateral sclerosis pathology

(2012) Takenari Yamashita et al.   Nature Communications

Delineation of the Core Aggregation Sequences of TDP-43 C-Terminal Fragment

(2011) Akash Saini et al.   CHEMBIOCHEM

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

(2011) S Orrù et al.   CLINICAL GENETICS

Aggregation of the 35-kDa fragment of TDP-43 causes formation of cytoplasmic inclusions and alteration of RNA processing

(2011) Mei-Xia Che et al.   FASEB JOURNAL

TDP-43-induced Death Is Associated with Altered Regulation of BIM and Bcl-xL and Attenuated by Caspase-mediated TDP-43 Cleavage

(2011) Hiroaki Suzuki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Comparison of fluorescence and light scattering based methods to assess formation and stability of protein–protein complexes

(2011) Jolanta Kopec et al.   JOURNAL OF STRUCTURAL BIOLOGY

FUS and TDP43 genetic variability in FTD and CBS

(2011) Edward D. Huey et al.   NEUROBIOLOGY OF AGING

Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation

(2011) Y. Fujita et al.   NEUROLOGY

Pathogenic TARDBP Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Disease-Associated Pathways

(2011) Sami J. Barmada et al.   REVIEWS IN THE NEUROSCIENCES

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

(2010) Paola Origone et al.   Amyotrophic Lateral Sclerosis

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis

(2010) Hui-Ling Xiong et al.   BMC Medical Genetics

Familial ALS with G298S Mutation in TARDBP: A Comparison of CSF Tau Protein Levels with those in Sporadic ALS

(2010) Ichiro Nozaki et al.   INTERNAL MEDICINE

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS

(2010) Ching-Paio Tsai et al.   NEUROBIOLOGY OF AGING

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

(2010) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

Mutant TAR DNA-binding protein-43 induces oxidative injury in motor neuron-like cell

(2010) W. Duan et al.   NEUROSCIENCE

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

(2010) S.-C. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 Dimerizes in Human Cells in Culture

(2009) Yuki Shiina et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

TARDBP(TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

(2009) R. Del Bo et al.   EUROPEAN JOURNAL OF NEUROLOGY

Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43

(2009) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Expression of TDP-43 C-terminal Fragmentsin VitroRecapitulates Pathological Features of TDP-43 Proteinopathies

(2009) Lionel M. Igaz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of Alternative Isoforms and Inclusion Body of the TAR DNA-binding Protein-43

(2009) Yoshinori Nishimoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 Is Intrinsically Aggregation-prone, and Amyotrophic Lateral Sclerosis-linked Mutations Accelerate Aggregation and Increase Toxicity

(2009) Brian S. Johnson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis

(2009) R Lemmens et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis

(2009) Masaki Kamada et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutational analysis of TARDBP in neurodegenerative diseases

(2009) Nicola Ticozzi et al.   NEUROBIOLOGY OF AGING

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

(2009) Janine Kirby et al.   NEUROGENETICS

Structural insights into TDP-43 in nucleic-acid binding and domain interactions

(2009) P.-H. Kuo et al.   NUCLEIC ACIDS RESEARCH

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

TDP-43mutation in familial amyotrophic lateral sclerosis

(2008) Akio Yokoseki et al.   ANNALS OF NEUROLOGY

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

Two German Kindreds With Familial Amyotrophic Lateral Sclerosis Due to TARDBP Mutations

(2008) Peter Kühnlein et al.   ARCHIVES OF NEUROLOGY

Potentiation of Amyotrophic Lateral Sclerosis (ALS)-associated TDP-43 Aggregation by the Proteasome-targeting Factor, Ubiquilin 1

(2008) Sang Hwa Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fine structural analysis of the neuronal inclusions of frontotemporal lobar degeneration with TDP-43 proteinopathy

(2008) Julian R. Thorpe et al.   JOURNAL OF NEURAL TRANSMISSION

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

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

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics