A network of RNA and protein interactions in Fronto Temporal Dementia

Variability of the Clinical Phenotype in an Italian Family with Dementia Associated with an Intronic Deletion in the GRN Gene

(2018) Gabriella Marcon et al.   JOURNAL OF ALZHEIMERS DISEASE

Intra-Familial Clinical Heterogeneity due to FTLD-U with TDP-43 Proteinopathy Caused by a Novel Deletion in Progranulin Gene (PGRN)

(2017) Tomasz Gabryelewicz et al.   JOURNAL OF ALZHEIMERS DISEASE

Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration–associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways

(2015) Tao Wang et al.   NEUROBIOLOGY OF AGING

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

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

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

The RNA-binding Protein TDP-43 Selectively Disrupts MicroRNA-1/206 Incorporation into the RNA-induced Silencing Complex

(2014) Isabelle N. King et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

The role of extracellular Tau in the spreading of neurofibrillary pathology

(2014) Miguel Medina et al.   Frontiers in Cellular Neuroscience

An ALS-associated mutation in the FUS 3′-UTR disrupts a microRNA–FUS regulatory circuitry

(2014) Stefano Dini Modigliani et al.   Nature Communications

The neuropathology associated with repeat expansions in the C9ORF72 gene

(2013) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons

(2013) Mariangela Iovino et al.   ACTA NEUROPATHOLOGICA

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

(2013) Naomi Kouri et al.   ACTA NEUROPATHOLOGICA

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Roles of long noncoding RNAs in brain development, functional diversification and neurodegenerative diseases

(2013) Ping Wu et al.   BRAIN RESEARCH BULLETIN

Regulation of microtubule-associated protein tau (MAPT) by miR-34c-5p determines the chemosensitivity of gastric cancer to paclitaxel

(2013) Hao Wu et al.   CANCER CHEMOTHERAPY AND PHARMACOLOGY

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

Transcriptome-wide analysis of TDP-43 binding small RNAs identifies miR-NID1 (miR-8485), a novel miRNA that represses NRXN1 expression

(2013) Zhen Fan et al.   GENOMICS

Compromised paraspeckle formation as a pathogenic factor in FUSopathies

(2013) Tatyana A. Shelkovnikova et al.   HUMAN MOLECULAR GENETICS

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

(2013) J. Janssens et al.   HUMAN MOLECULAR GENETICS

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Alternative polyadenylation and miR-34 family members regulate tau expression

(2013) John R. Dickson et al.   JOURNAL OF NEUROCHEMISTRY

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation

(2013) M. Suarez-Calvet et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Synthetic Tau Fibrils Mediate Transmission of Neurofibrillary Tangles in a Transgenic Mouse Model of Alzheimer's-Like Tauopathy

(2013) M. Iba et al.   JOURNAL OF NEUROSCIENCE

Tau pathology and neurodegeneration

(2013) Maria Grazia Spillantini et al.   LANCET NEUROLOGY

TDP-43 Regulates the Microprocessor Complex Activity During In Vitro Neuronal Differentiation

(2013) Valerio Di Carlo et al.   MOLECULAR NEUROBIOLOGY

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

(2013) Eun-Joo Kim et al.   NEUROBIOLOGY OF AGING

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features

(2013) Giacomina Rossi et al.   NEUROBIOLOGY OF AGING

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

(2013) Fernando Bartolome et al.   NEURON

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

(2013) Peter E.A. Ash et al.   NEURON

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function

(2013) Abhinaya Iyer et al.   PLoS One

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Long noncoding RNAs in development and disease of the central nervous system

(2013) Shi-Yan Ng et al.   TRENDS IN GENETICS

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

The long non-coding RNA nuclear-enriched abundant transcript 1_2 induces paraspeckle formation in the motor neuron during the early phase of amyotrophic lateral sclerosis

(2013) Yoshinori Nishimoto et al.   Molecular Brain

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

(2012) Shabnam Ghazi-Noori et al.   BRAIN

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

(2012) J. S. Snowden et al.   BRAIN

Paraspeckle nuclear bodies—useful uselessness?

(2012) Shinichi Nakagawa et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The ESCRT machinery

(2012) Oliver Schmidt et al.   CURRENT BIOLOGY

Convergent repression of Foxp2 3'UTR by miR-9 and miR-132 in embryonic mouse neocortex: implications for radial migration of neurons

(2012) Y. M. Clovis et al.   DEVELOPMENT

FUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitment

(2012) Mariangela Morlando et al.   EMBO JOURNAL

Alternative 3′-end processing of long noncoding RNA initiates construction of nuclear paraspeckles

(2012) Takao Naganuma et al.   EMBO JOURNAL

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

FUS binds the CTD of RNA polymerase II and regulates its phosphorylation at Ser2

(2012) J. C. Schwartz et al.   GENES & DEVELOPMENT

Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection

(2012) S. E. Avendano-Vazquez et al.   GENES & DEVELOPMENT

Locus-specific mutation databases for neurodegenerative brain diseases

(2012) Marc Cruts et al.   HUMAN MUTATION

A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

(2012) Julie van der Zee et al.   HUMAN MUTATION

TDP-43 and FUS RNA-binding Proteins Bind Distinct Sets of Cytoplasmic Messenger RNAs and Differently Regulate Their Post-transcriptional Fate in Motoneuron-like Cells

(2012) Claudia Colombrita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of nuclear TDP-43 by NR2A-containing NMDA receptors and PTEN

(2012) M. Zheng et al.   JOURNAL OF CELL SCIENCE

RNA-mediated toxicity in neurodegenerative disease

(2012) Veronique V. Belzil et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

MicroRNAs and their targets: recognition, regulation and an emerging reciprocal relationship

(2012) Amy E. Pasquinelli   NATURE REVIEWS GENETICS

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in Southern Italy

(2012) Livia Bernardi et al.   NEUROBIOLOGY OF AGING

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

(2012) Eleanna Kara et al.   NEUROBIOLOGY OF AGING

Constitutive secretion of tau protein by an unconventional mechanism

(2012) Xiyun Chai et al.   NEUROBIOLOGY OF DISEASE

Propagation of Tau Pathology in a Model of Early Alzheimer's Disease

(2012) Alix de Calignon et al.   NEURON

Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS

(2012) Kotaro Ogaki et al.   PARKINSONISM & RELATED DISORDERS

Trans-Synaptic Spread of Tau Pathology In Vivo

(2012) Li Liu et al.   PLoS One

TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

(2012) Y. Kawahara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions

(2012) Shinsuke Ishigaki et al.   Scientific Reports

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

(2012) Pietro Fratta et al.   Scientific Reports

2011 Alzheimer’s disease facts and figures

(2011)   Alzheimers & Dementia

Coding-Independent Regulation of the Tumor Suppressor PTEN by Competing Endogenous mRNAs

(2011) Yvonne Tay et al.   CELL

A Long Noncoding RNA Controls Muscle Differentiation by Functioning as a Competing Endogenous RNA

(2011) Marcella Cesana et al.   CELL

Neurexins and neuroligins: synapses look out of the nervous system

(2011) Alessia Bottos et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond

(2011) Sandrine Da Cruz et al.   CURRENT OPINION IN NEUROBIOLOGY

microRNA-34c is a novel target to treat dementias

(2011) Athanasios Zovoilis et al.   EMBO JOURNAL

Characterization of the Asian myopathy patients with VCP mutations

(2011) Z. Shi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Proteostasis of tau. Tau overexpression results in its secretion via membrane vesicles

(2011) Diana Simón et al.   FEBS LETTERS

HDL/Apolipoprotein A-I Binds to Macrophage-Derived Progranulin and Suppresses its Conversion into Proinflammatory Granulins

(2011) Hanayuki Okura et al.   Journal of Atherosclerosis and Thrombosis

Charged Multivesicular Body Protein 2B (CHMP2B) of the Endosomal Sorting Complex Required for Transport-III (ESCRT-III) Polymerizes into Helical Structures Deforming the Plasma Membrane

(2011) Gilles Bodon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exosome-associated Tau Is Secreted in Tauopathy Models and Is Selectively Phosphorylated in Cerebrospinal Fluid in Early Alzheimer Disease

(2011) Sudad Saman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Paraspeckles are subpopulation-specific nuclear bodies that are not essential in mice

(2011) Shinichi Nakagawa et al.   JOURNAL OF CELL BIOLOGY

Cytoplasmic mRNP granules at a glance

(2011) S. L. Erickson et al.   JOURNAL OF CELL SCIENCE

The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis

(2011) Angèle Nalbandian et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS

(2011) Shangxi Xiao et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

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

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Gene silencing by microRNAs: contributions of translational repression and mRNA decay

(2011) Eric Huntzinger et al.   NATURE REVIEWS GENETICS

Host factors involved in retroviral budding and release

(2011) Juan Martin-Serrano et al.   NATURE REVIEWS MICROBIOLOGY

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

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

RNA targets of wild-type and mutant FET family proteins

(2011) Jessica I Hoell et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

(2011) Maria Anfossi et al.   NEUROBIOLOGY OF AGING

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization

(2011) Giacomina Rossi et al.   NEUROBIOLOGY OF AGING

FUS and TDP43 genetic variability in FTD and CBS

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

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

The role of neurexins in schizophrenia and autistic spectrum disorder

(2011) A.C. Reichelt et al.   NEUROPHARMACOLOGY

Progranulin, a Glycoprotein Deficient in Frontotemporal Dementia, Is a Novel Substrate of Several Protein Disulfide Isomerase Family Proteins

(2011) Sandra Almeida et al.   PLoS One

Dynamics of endosomal sorting complex required for transport (ESCRT) machinery during cytokinesis and its role in abscission

(2011) N. Elia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neurodegeneration the RNA way

(2011) Abigail J. Renoux et al.   PROGRESS IN NEUROBIOLOGY

The Reality of Pervasive Transcription

(2011) Michael B. Clark et al.   PLOS BIOLOGY

Novel Missense Mutation in Charged Multivesicular Body Protein 2B in a Patient With Frontotemporal Dementia

(2010) Raffaele Ferrari et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Novel Progranulin Mutation Detected in 2 Patients With FTLD

(2010) Lena Skoglund et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

miR-107 Regulates Granulin/Progranulin with Implications for Traumatic Brain Injury and Neurodegenerative Disease

(2010) Wang-Xia Wang et al.   AMERICAN JOURNAL OF PATHOLOGY

FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis

(2010) Han-Xiang Deng et al.   ANNALS OF NEUROLOGY

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS

(2010) Daisuke Ito et al.   ANNALS OF NEUROLOGY

Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations

(2010) Adriano Chiò et al.   ARCHIVES OF NEUROLOGY

The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes: Figure 1

(2010) Daniel Metcalf et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

MicroRNAs: Synthesis, mechanism, function, and recent clinical trials

(2010) Fazli Wahid et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

ESCRT & Co

(2010) Ingrid Roxrud et al.   BIOLOGY OF THE CELL

Progranulin deficiency leads to enhanced cell vulnerability and TDP-43 translocation in primary neuronal cultures

(2010) Aobo Guo et al.   BRAIN RESEARCH

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

Nuclear factor TDP-43 can affect selected microRNA levels

(2010) Emanuele Buratti et al.   FEBS Journal

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

(2010) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

(2010) Hazel Urwin et al.   HUMAN MOLECULAR GENETICS

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

(2010) Daryl A. Bosco et al.   HUMAN MOLECULAR GENETICS

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

Identification of Neuronal RNA Targets of TDP-43-containing Ribonucleoprotein Complexes

(2010) Chantelle F. Sephton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Amyotrophic Lateral Sclerosis-associated Proteins TDP-43 and FUS/TLS Function in a Common Biochemical Complex to Co-regulate HDAC6 mRNA

(2010) Sang Hwa Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progranulin (granulin/epithelin precursor) and its constituent granulin repeats repress transcription from cellular promoters

(2010) Mainul Hoque et al.   JOURNAL OF CELLULAR PHYSIOLOGY

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration

(2010) Mustapha Ghanim et al.   JOURNAL OF NEUROLOGY

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

(2010) S. J. Barmada et al.   JOURNAL OF NEUROSCIENCE

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

(2010) Y.-F. Xu et al.   JOURNAL OF NEUROSCIENCE

Development and application of mass spectrometric methods for the analysis of progranulin N-glycosylation

(2010) Kriangsak Songsrirote et al.   Journal of Proteomics

Semantic dementia associated with mutation V363I in the tau gene

(2010) Valentina Bessi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Highly Ordered Spatial Organization of the Structural Long Noncoding NEAT1 RNAs within Paraspeckle Nuclear Bodies

(2010) Sylvie Souquere et al.   MOLECULAR BIOLOGY OF THE CELL

Targeting microRNAs in cancer: rationale, strategies and challenges

(2010) Ramiro Garzon et al.   NATURE REVIEWS DRUG DISCOVERY

Progressive motor weakness in transgenic mice expressing human TDP-43

(2010) Nancy R. Stallings et al.   NEUROBIOLOGY OF DISEASE

RNA processing pathways in amyotrophic lateral sclerosis

(2010) Marka van Blitterswijk et al.   NEUROGENETICS

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

(2010) J. Yan et al.   NEUROLOGY

Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings

(2010) Kishore R. Kumar et al.   NEUROMUSCULAR DISORDERS

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD

(2010) Han-Joon Kim et al.   PARKINSONISM & RELATED DISORDERS

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

MicroRNA-29b Regulates the Expression Level of Human Progranulin, a Secreted Glycoprotein Implicated in Frontotemporal Dementia

(2010) Jian Jiao et al.   PLoS One

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

Telomeric repeat-containing RNA structure in living cells

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

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice

(2010) X. Shan 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

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

(2010) Emanuele Buratti et al.   RNA Biology

Paraspeckles

(2010) A. H. Fox et al.   Cold Spring Harbor Perspectives in Biology

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration

(2009) Alice S. Chen-Plotkin et al.   ACTA NEUROPATHOLOGICA

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

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

RNA mediated neurodegeneration in repeat expansion disorders

(2009) Peter K Todd et al.   ANNALS OF NEUROLOGY

The ESCRT pathway and HIV-1 budding: Figure 1

(2009) Yoshiko Usami et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The granulin gene family: from cancer to dementia

(2009) Andrew Bateman et al.   BIOESSAYS

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

(2009) N. Finch et al.   BRAIN

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

MicroRNAs: Target Recognition and Regulatory Functions

(2009) David P. Bartel   CELL

The miR-34 family in cancer and apoptosis

(2009) H Hermeking   CELL DEATH AND DIFFERENTIATION

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

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

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

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

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

(2009) Fangfang Yin et al.   JOURNAL OF EXPERIMENTAL MEDICINE

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

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

Altered Nuclear Retention of mRNAs Containing Inverted Repeats in Human Embryonic Stem Cells: Functional Role of a Nuclear Noncoding RNA

(2009) Ling-Ling Chen et al.   MOLECULAR CELL

Eukaryotic Stress Granules: The Ins and Outs of Translation

(2009) J. Ross Buchan et al.   MOLECULAR CELL

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

(2009) Gabor G. Kovacs et al.   MOVEMENT DISORDERS

A novel mutation in the VCP gene (G157R) in a german family with inclusion-body myopathy with paget disease of bone and frontotemporal dementia

(2009) Atbin Djamshidian et al.   MUSCLE & NERVE

Balanced gene regulation by an embryonic brain ncRNA is critical for adult hippocampal GABA circuitry

(2009) Allison M Bond et al.   NATURE NEUROSCIENCE

Small silencing RNAs: an expanding universe

(2009) Megha Ghildiyal et al.   NATURE REVIEWS GENETICS

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

(2009) Natasha Luquin et al.   NEUROMUSCULAR DISORDERS

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia

(2009) Tanya Stojkovic et al.   NEUROMUSCULAR DISORDERS

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts

(2009) Jouni Vesa et al.   NEUROMUSCULAR DISORDERS

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

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

The TET Family of Proteins: Functions and Roles in Disease

(2009) A. Y. Tan et al.   Journal of Molecular Cell Biology

P2-205: Neuropathologic and genetic characterization of frontotemporal lobar degeneration with ubiquitin- and/or TDP-43-positive inclusions: A large series

(2008) Salvatore Spina et al.   Alzheimers & Dementia

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Gene expression study on peripheral blood identifies progranulin mutations

(2008) Giovanni Coppola et al.   ANNALS OF NEUROLOGY

The art of microRNA: Various strategies leading to gene silencing via an ancient pathway

(2008) G TANG et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

(2008) Adolfo López de Munain et al.   BIOLOGICAL PSYCHIATRY

Functional integration of transcriptional and RNA processing machineries

(2008) Shatakshi Pandit et al.   CURRENT OPINION IN CELL BIOLOGY

MEN  /  nuclear-retained non-coding RNAs are up-regulated upon muscle differentiation and are essential components of paraspeckles

(2008) H. Sunwoo et al.   GENOME RESEARCH

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

(2008) Rosa Rademakers et al.   HUMAN MOLECULAR GENETICS

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

(2008) Odity Mukherjee et al.   HUMAN MUTATION

Mechanisms of RNA-mediated Disease

(2008) Jason R. O'Rourke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

(2008) Philip Van Damme et al.   JOURNAL OF CELL BIOLOGY

Proteinase 3 and neutrophil elastase enhance inflammation in mice by inactivating antiinflammatory progranulin

(2008) Kai Kessenbrock et al.   JOURNAL OF CLINICAL INVESTIGATION

The Expression of MicroRNA miR-107 Decreases Early in Alzheimer's Disease and May Accelerate Disease Progression through Regulation of  -Site Amyloid Precursor Protein-Cleaving Enzyme 1

(2008) W.-X. Wang et al.   JOURNAL OF NEUROSCIENCE

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

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

Pharmacoproteomics of a Metalloproteinase Hydroxamate Inhibitor in Breast Cancer Cells: Dynamics of Membrane Type 1 Matrix Metalloproteinase-Mediated Membrane Protein Shedding

(2008) G. S. Butler et al.   MOLECULAR AND CELLULAR BIOLOGY

Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription

(2008) Xiangting Wang et al.   NATURE

Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution

(2008) Brian T. Wilhelm et al.   NATURE

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

(2008) Anne Rovelet-Lecrux et al.   NEUROBIOLOGY OF DISEASE

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

(2008) Barbara Borroni et al.   NEUROGENETICS

Conserved elements with potential to form polymorphic G-quadruplex structures in the first intron of human genes

(2008) Johanna Eddy et al.   NUCLEIC ACIDS RESEARCH

G-quadruplexes: the beginning and end of UTRs

(2008) Julian Leon Huppert et al.   NUCLEIC ACIDS RESEARCH

Loss of microRNA cluster miR-29a/b-1 in sporadic Alzheimer's disease correlates with increased BACE1/ -secretase expression

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

Specific expression of long noncoding RNAs in the mouse brain

(2008) T. R. Mercer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of glucose-regulated miRNAs from pancreatic   cells reveals a role for miR-30d in insulin transcription

(2008) X. Tang et al.   RNA

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Stress granules: the Tao of RNA triage

(2008) Paul Anderson et al.   TRENDS IN BIOCHEMICAL SCIENCES

Loss of progranulin function in frontotemporal lobar degeneration

(2008) Marc Cruts et al.   TRENDS IN GENETICS

Progranulin locus deletion in frontotemporal dementia

(2007) I. Gijselinck et al.   HUMAN MUTATION

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

(2007) Anna Bersano et al.   NEUROBIOLOGY OF AGING