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

Racing against the clock: Recognizing, differentiating, diagnosing, and referring the amyotrophic lateral sclerosis patient

(2010) Steven J. Shook et al.   ANNALS OF NEUROLOGY

Managing amyotrophic lateral sclerosis: Slowing disease progression and improving patient quality of life

(2010) Benjamin Rix Brooks   ANNALS OF NEUROLOGY

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

Ubiquilin Modifies TDP-43 Toxicity in a Drosophila Model of Amyotrophic Lateral Sclerosis (ALS)

(2010) Keith A. Hanson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral Sclerosis

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Induction of Amyloid Fibrils by the C-Terminal Fragments of TDP-43 in Amyotrophic Lateral Sclerosis

(2010) Allan K.-H. Chen et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

A Drosophila model for TDP-43 proteinopathy

(2010) Y. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

(2010) Hans Wils et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

(2009) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Overexpression of Wild-Type Murine Tau Results in Progressive Tauopathy and Neurodegeneration

(2009) Stephanie J. Adams et al.   AMERICAN JOURNAL OF PATHOLOGY

The natural history of ALS is changing: Improved survival

(2009) Muddasir Qureshi et al.   Amyotrophic Lateral Sclerosis

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis

(2009) Hsueh-Ning Liu et al.   ANNALS OF NEUROLOGY

Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

(2009) Felix Geser et al.   ARCHIVES OF NEUROLOGY

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Cytosolic TDP-43 expression following axotomy is associated with caspase 3 activation in NFL −/− mice: Support for a role for TDP-43 in the physiological response to neuronal injury

(2009) Katie Moisse et al.   BRAIN RESEARCH

Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS)

(2009) Kathryn Volkening et al.   BRAIN RESEARCH

Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6

(2009) Fabienne C Fiesel et al.   EMBO JOURNAL

Epidemiology of ALS in Padova district, Italy, from 1992 to 2005

(2009) V. Cima et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

Depletion of TDP-43 affectsDrosophila motoneuronsterminal synapsis and locomotive behavior

(2009) Fabian Feiguin et al.   FEBS LETTERS

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

(2009) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

(2009) G. S. Pesiridis et al.   HUMAN MOLECULAR GENETICS

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Molecular Neuropathology of TDP-43 Proteinopathies

(2009) Manuela Neumann   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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 a Developmentally Regulated Protein Essential for Early Embryonic Development

(2009) Chantelle F. Sephton 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

Rapamycin Rescues TDP-43 Mislocalization and the Associated Low Molecular Mass Neurofilament Instability

(2009) Antonella Caccamo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

Non–cell autonomous toxicity in neurodegenerative disorders: ALS and beyond

(2009) Hristelina Ilieva et al.   JOURNAL OF CELL BIOLOGY

TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation

(2009) D Baumer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis

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

Inhibition of Autophagy Induction Delays Neuronal Cell Loss Caused by Dysfunctional ESCRT-III in Frontotemporal Dementia

(2009) J.-A Lee et al.   JOURNAL OF NEUROSCIENCE

Global Analysis of TDP-43 Interacting Proteins Reveals Strong Association with RNA Splicing and Translation Machinery

(2009) Brian D. Freibaum et al.   JOURNAL OF PROTEOME RESEARCH

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis

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

The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)

(2009) Michael J. Strong   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mimicking Aspects of Frontotemporal Lobar Degeneration and Lou Gehrig's Disease in Rats via TDP-43 Overexpression

(2009) Jason B Tatom et al.   MOLECULAR THERAPY

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

(2009) Erika Driver-Dunckley et al.   MOVEMENT DISORDERS

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

(2009) I. Le Ber et al.   NEUROLOGY

Atrophy patterns in histologic vs clinical groupings of frontotemporal lobar degeneration

(2009) J.M.S. Pereira et al.   NEUROLOGY

APOE  2 is associated with intact cognition but increased Alzheimer pathology in the oldest old

(2009) D. J. Berlau et al.   NEUROLOGY

Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis

(2009) Natasha Luquin et al.   NEUROMUSCULAR DISORDERS

Axonal ligation induces transient redistribution of TDP-43 in brainstem motor neurons

(2009) T. Sato et al.   NEUROSCIENCE

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

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

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

Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching

(2009) Yubing Lu et al.   Molecular Brain

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

Protein Misfolding and Neurodegeneration

(2008) Claudio Soto et al.   ARCHIVES OF NEUROLOGY

Evidence of Multisystem Disorder in Whole-Brain Map of Pathological TDP-43 in Amyotrophic Lateral Sclerosis

(2008) Felix Geser et al.   ARCHIVES OF NEUROLOGY

Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9

(2008) Agnes A Luty et al.   BMC Neurology

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

Function and regulation of local axonal translation

(2008) Andrew C Lin et al.   CURRENT OPINION IN NEUROBIOLOGY

The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia

(2008) Ian RA Mackenzie et al.   CURRENT OPINION IN NEUROLOGY

Selective functional, regional, and neuronal vulnerability in frontotemporal dementia

(2008) William W Seeley   CURRENT OPINION IN NEUROLOGY

Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells

(2008) Takashi Nonaka et al.   FEBS LETTERS

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

(2008) Yuki Inukai et al.   FEBS LETTERS

Single Neuron Ubiquitin-Proteasome Dynamics Accompanying Inclusion Body Formation in Huntington Disease

(2008) Siddhartha Mitra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 Overexpression Enhances Exon 7 Inclusion during the Survival of Motor Neuron Pre-mRNA Splicing

(2008) Jayarama Krishnan Bose et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Disturbance of Nuclear and Cytoplasmic TAR DNA-binding Protein (TDP-43) Induces Disease-like Redistribution, Sequestration, and Aggregate Formation

(2008) Matthew J. Winton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

(2008) Huda Y. Zoghbi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor

(2008) I.-Fan Wang et al.   JOURNAL OF NEUROCHEMISTRY

Aggregates Assembled From Overexpression of Wild-Type α-Synuclein are not Toxic to Human Neuronal Cells

(2008) Li-wen Ko et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Genetics of familial amyotrophic lateral sclerosis

(2008) P. N. Valdmanis et al.   NEUROLOGY

Distinct genetic forms of frontotemporal dementia

(2008) H. Seelaar et al.   NEUROLOGY

Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: A clinical and brain imaging review

(2008) M.M. van der Graaff et al.   NEUROMUSCULAR DISORDERS

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

(2008) B. S. Johnson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS

(2008) B TURNER et al.   PROGRESS IN NEUROBIOLOGY

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

Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues

(2007) G Logroscino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Plaque-bearing mice with reduced levels of oligomeric amyloid-β assemblies have intact memory function

(2007) S. Lesné et al.   NEUROSCIENCE