Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation

Autophagy in Neurodegenerative Diseases: From Mechanism to Therapeutic Approach

(2015) Jihoon Nah et al.   MOLECULES AND CELLS

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

(2015) Bradley N. Smith et al.   NEUROBIOLOGY OF AGING

Structural basis for mutation-induced destabilization of profilin 1 in ALS

(2015) Sivakumar Boopathy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distinct pathways leading to TDP-43-induced cellular dysfunctions

(2014) Makiko Yamashita et al.   HUMAN MOLECULAR GENETICS

Profilin 1 Associates with Stress Granules and ALS-Linked Mutations Alter Stress Granule Dynamics

(2014) M. D. Figley et al.   JOURNAL OF NEUROSCIENCE

The ubiquitin-proteasome system in neurodegenerative diseases: precipitating factor, yet part of the solution

(2014) Nico P. Dantuma et al.   Frontiers in Molecular Neuroscience

Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis

(2013) Tomohiko Ishihara et al.   HUMAN MOLECULAR GENETICS

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

(2013) P. Fratta et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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(2013)   NEUROBIOLOGY OF AGING

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

(2013) Lubina Dillen et al.   NEUROBIOLOGY OF AGING

Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

(2013) Takashi Nonaka et al.   Cell Reports

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

(2013) Marka van Blitterswijk et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism

(2012) Brian A. Keller et al.   ACTA NEUROPATHOLOGICA

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

(2012) Cinzia Tiloca et al.   NEUROBIOLOGY OF AGING

Molecular Dissection of TDP-43 Proteinopathies

(2011) Masato Hasegawa et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity

(2011) Weirui Guo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Phosphorylated and cleaved TDP-43 in ALS, FTLD and other neurodegenerative disorders and in cellular models of TDP-43 proteinopathy

(2010) Tetsuaki Arai et al.   NEUROPATHOLOGY

The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

(2010) Emanuele Buratti et al.   RNA Biology

A Cellular Model To Monitor Proteasome Dysfunction by α-Synuclein

(2009) Takashi Nonaka et al.   BIOCHEMISTRY

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

(2009) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology

(2009) Stuart J. Rabin et al.   HUMAN MOLECULAR GENETICS

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

Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions Visualized With Ubiquitin-Binding Protein p62 Immunohistochemistry

(2009) Maria Pikkarainen et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2008) Masato Hasegawa et al.   ANNALS OF 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

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