C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum

(2013) Matthew Thomas et al.   BRAIN

Extracellular wildtype and mutant SOD1 induces ER–Golgi pathology characteristic of amyotrophic lateral sclerosis in neuronal cells

(2013) Vinod Sundaramoorthy et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

Overexpression of ALS-Associated p.M337V Human TDP-43 in Mice Worsens Disease Features Compared to Wild-type Human TDP-43 Mice

(2013) Jonathan Janssens et al.   MOLECULAR NEUROBIOLOGY

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

Regulation of Small GTPases by GEFs, GAPs, and GDIs

(2013) Jacqueline Cherfils et al.   PHYSIOLOGICAL REVIEWS

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

The actin cytoskeleton participates in the early events of autophagosome formation upon starvation induced autophagy

(2012) Milton Osmar Aguilera et al.   Autophagy

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

(2012) Bradley F. Boeve et al.   BRAIN

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

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

TBC1D14 regulates autophagosome formation via Rab11- and ULK1-positive recycling endosomes

(2012) Andrea Longatti et al.   JOURNAL OF CELL BIOLOGY

Low Dose Proteasome Inhibition Affects Alternative Splicing

(2012) Sven Bieler et al.   JOURNAL OF PROTEOME RESEARCH

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Heterogeneous nuclear ribonucleoprotein A1 in health and neurodegenerative disease: From structural insights to post-transcriptional regulatory roles

(2012) Uriya Bekenstein et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

(2012) Maria Armakola et al.   NATURE GENETICS

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

(2012) C. Dobson-Stone et al.   NEUROLOGY

FTD/ALS families are no longer orphaned: The C9ORF72 story

(2012) J. C. van Swieten et al.   NEUROLOGY

Frontotemporal dementia due to C9ORF72 mutations: Clinical and imaging features

(2012) S. J. Sha et al.   NEUROLOGY

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

Neuropathological background of phenotypical variability in frontotemporal dementia

(2011) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: Implications for human motor neuron disease

(2011) Ralf Palmisano et al.   BMC NEUROSCIENCE

Autophagy in Spinal Cord Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

(2011) Shoichi Sasaki   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

(2011) Laura Ferraiuolo et al.   Nature Reviews Neurology

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

An MND/ALS phenotype associated withC9orf72repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

(2011) Claire Troakes et al.   NEUROPATHOLOGY

Ubiquilin at a crossroads in protein degradation pathways

(2010) Cara Rothenberg et al.   Autophagy

The Evolutionarily Conserved Interaction Between LC3 and p62 Selectively Mediates Autophagy-Dependent Degradation of Mutant Huntingtin

(2010) Ying-Tsen Tung et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy

(2010) Joo-Yong Lee et al.   EMBO JOURNAL

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy

(2010) C. Rothenberg et al.   HUMAN MOLECULAR GENETICS

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

Proteasome inhibitors induce nucleolar aggregation of proteasome target proteins and polyadenylated RNA by altering ubiquitin availability

(2010) L Latonen et al.   ONCOGENE

Autophagosome Formation Depends on the Small GTPase Rab1 and Functional ER Exit Sites

(2010) Felipe Carlos Martín Zoppino et al.   TRAFFIC

Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems

(2009) Viktor I. Korolchuk et al.   FEBS LETTERS

Dynein Dysfunction Induces Endocytic Pathology Accompanied by an Increase in Rab GTPases

(2009) Nobuyuki Kimura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Discovery of Atg5/Atg7-independent alternative macroautophagy

(2009) Yuya Nishida et al.   NATURE

Large Scale Screening for Novel Rab Effectors Reveals Unexpected Broad Rab Binding Specificity

(2008) Mitsunori Fukuda et al.   MOLECULAR & CELLULAR PROTEOMICS