Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

(2012) B. Bilican et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

(2011) Ya-Fei Xu et al.   Molecular Neurodegeneration

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

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats

(2011) Agnieszka Fiszer et al.   NUCLEIC ACIDS RESEARCH

The C-Terminal TDP-43 Fragments Have a High Aggregation Propensity and Harm Neurons by a Dominant-Negative Mechanism

(2011) Chunxing Yang et al.   PLoS One

Efficient Allele-Specific Targeting of LRRK2 R1441 Mutations Mediated by RNAi

(2011) Laura de Yñigo-Mojado et al.   PLoS One

Rapid induction and long-term self-renewal of primitive neural precursors from human embryonic stem cells by small molecule inhibitors

(2011) W. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

(2010) Brian C. Kraemer et al.   ACTA NEUROPATHOLOGICA

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

(2010) Agnes L. Nishimura et al.   BRAIN

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

(2010) Youhna M Ayala et al.   EMBO JOURNAL

TDP-43 M337V Mutation in Familial Amyotrophic Lateral Sclerosis in Japan

(2010) Akira Tamaoka et al.   INTERNAL MEDICINE

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

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

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

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference

(2009) Maria Stella Lombardi et al.   EXPERIMENTAL NEUROLOGY

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

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

Allele-specific RNAi Mitigates Phenotypic Progression in a Transgenic Model of Alzheimer's Disease

(2009) Edgardo Rodríguez-Lebrón et al.   MOLECULAR THERAPY

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

(2008) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Identification and Allele-Specific Silencing of the Mutant Huntingtin Allele in Huntington's Disease Patient-Derived Fibroblasts

(2008) P.H.J. van Bilsen et al.   HUMAN GENE THERAPY

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

Allele-specific silencing of mutant Huntington’s disease gene

(2008) Yu Zhang et al.   JOURNAL OF NEUROCHEMISTRY

High throughput quantification of mutant huntingtin aggregates

(2008) Emma L. Scotter et al.   JOURNAL OF NEUROSCIENCE METHODS

Systemic AAV6 Delivery Mediating RNA Interference Against SOD1: Neuromuscular Transduction Does Not Alter Disease Progression in fALS Mice

(2008) Chris Towne et al.   MOLECULAR THERAPY

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