Amyotrophic lateral sclerosis: an update on recent genetic insights
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Title
Amyotrophic lateral sclerosis: an update on recent genetic insights
Authors
Keywords
Amyotrophic lateral sclerosis, Motor neuron disease, Protein aggregation, RNA metabolism
Journal
JOURNAL OF NEUROLOGY
Volume 260, Issue 11, Pages 2917-2927
Publisher
Springer Nature
Online
2013-10-01
DOI
10.1007/s00415-013-7112-y
References
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Note: Only part of the references are listed.- Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
- (2013) Jon Beck et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
- (2013) Timothy P. Levine et al. BIOINFORMATICS
- Loss of TDP-43 causes age-dependent progressive motor neuron degeneration
- (2013) Yohei Iguchi et al. BRAIN
- 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
- ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
- (2013) E. S. Arnold et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- FUS regulates genes coding for RNA-binding proteins in neurons by binding to their highly conserved introns
- (2013) T. Nakaya et al. RNA
- The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
- (2013) K. Mori et al. SCIENCE
- Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
- (2013) Marc Cruts et al. TRENDS IN NEUROSCIENCES
- Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains
- (2013) Takashi Nonaka et al. Cell Reports
- Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
- (2012) Johannes Brettschneider et al. ACTA NEUROPATHOLOGICA
- 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
- Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion
- (2012) Jacqueline C. Mitchell et al. ACTA NEUROPATHOLOGICA
- C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan
- (2012) Hiroyuki Ishiura et al. ARCHIVES OF NEUROLOGY
- Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43
- (2012) Azusa Uchida et al. BRAIN
- Spliceosome integrity is defective in the motor neuron diseases ALS and SMA
- (2012) Hitomi Tsuiji et al. EMBO Molecular Medicine
- 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
- Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
- (2012) Julien Couthouis et al. HUMAN MOLECULAR GENETICS
- Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis
- (2012) Manal A. Farg et al. HUMAN MOLECULAR GENETICS
- Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins
- (2012) Shoji Watanabe et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Targeted Depletion of TDP-43 Expression in the Spinal Cord Motor Neurons Leads to the Development of Amyotrophic Lateral Sclerosis-like Phenotypes in Mice
- (2012) Lien-Szu Wu et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive–compulsive disorder associated to GGGGCC expansion of the c9orf72 gene
- (2012) Andrea Calvo et al. JOURNAL OF NEUROLOGY
- Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?
- (2012) Gianluca Floris et al. JOURNAL OF NEUROLOGY
- Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation
- (2012) Makoto Hara et al. JOURNAL OF NEUROLOGY
- Perspectives on molecular targeted therapies and clinical trials for neurodegenerative diseases
- (2012) Masahisa Katsuno et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72
- (2012) T. Konno et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
- (2012) Susan Byrne et al. LANCET NEUROLOGY
- 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
- Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
- (2012) Chi-Hong Wu et al. NATURE
- Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system
- (2012) Hemmo Meyer et al. NATURE CELL BIOLOGY
- 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
- Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations
- (2012) P. Corcia et al. NEUROLOGY
- 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
- Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43
- (2012) I.-F. Wang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice
- (2012) H Z Yin et al. Cell Death & Disease
- Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions
- (2012) Shinsuke Ishigaki et al. Scientific Reports
- Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain
- (2012) Boris Rogelj et al. Scientific Reports
- FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA
- (2012) Tomohiro Yamazaki et al. Cell Reports
- Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation
- (2011) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders
- (2011) Tibor Hortobágyi et al. ACTA NEUROPATHOLOGICA
- p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
- (2011) Safa Al-Sarraj et al. ACTA NEUROPATHOLOGICA
- A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
- (2011) Amr Al-Saif et al. ANNALS OF NEUROLOGY
- Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without SOD1 Mutations
- (2011) Han-Xiang Deng ARCHIVES OF NEUROLOGY
- Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis
- (2011) Hussein Daoud et al. ARCHIVES OF NEUROLOGY
- SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
- (2011) Faisal Fecto ARCHIVES OF NEUROLOGY
- Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments
- (2011) Vivek Swarup et al. BRAIN
- Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
- (2011) T. Lee et al. HUMAN MOLECULAR GENETICS
- Ataxin-2 repeat-length variation and neurodegeneration
- (2011) O. A. Ross et al. HUMAN MOLECULAR GENETICS
- Novel Types of Frontotemporal Lobar Degeneration: Beyond Tau and TDP-43
- (2011) Ian R. A. Mackenzie et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation
- (2011) Satoshi Yamashita et al. JOURNAL OF NEUROLOGY
- A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes
- (2011) Jonathan D. Rohrer et al. JOURNAL OF NEUROLOGY
- Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis
- (2011) R. Del Bo et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Optineurin mutations in Japanese amyotrophic lateral sclerosis: Table 1
- (2011) Aritoshi Iida et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Autophagy in Spinal Cord Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis
- (2011) Shoichi Sasaki JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- 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
- Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
- (2011) Han-Xiang Deng et al. NATURE
- 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
- The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect
- (2011) Suzana Gispert et al. NEUROBIOLOGY OF DISEASE
- Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
- (2011) P. Van Damme et al. 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
- Optineurin in neurodegenerative diseases
- (2011) Tenshi Osawa et al. NEUROPATHOLOGY
- A yeast functional screen predicts new candidate ALS disease genes
- (2011) J. Couthouis et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- D-Amino acid oxidase controls motoneuron degeneration through D-serine
- (2011) J. Sasabe et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth
- (2011) P. Wild et al. SCIENCE
- FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration
- (2011) Cao Huang et al. PLoS Genetics
- Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis
- (2010) Brian C. Kraemer et al. ACTA NEUROPATHOLOGICA
- FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the Netherlands
- (2010) Ewout J. N. Groen et al. ARCHIVES OF NEUROLOGY
- PtdIns(3,5)P2and autophagy in mouse models of neurodegeneration
- (2010) Cole J. Ferguson et al. Autophagy
- SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
- (2010) A. Orlacchio et al. BRAIN
- Extensive FUS-Immunoreactive Pathology in Juvenile Amyotrophic Lateral Sclerosis with Basophilic Inclusions
- (2010) Eric J. Huang et al. BRAIN PATHOLOGY
- 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
- Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
- (2010) Daryl A. Bosco et al. HUMAN MOLECULAR GENETICS
- Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy
- (2010) C. Rothenberg 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
- Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U
- (2010) Kuen-Jer Tsai et al. JOURNAL OF EXPERIMENTAL MEDICINE
- FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion
- (2010) Naoki Suzuki et al. JOURNAL OF HUMAN GENETICS
- 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
- Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
- (2010) Andrew C. Elden et al. NATURE
- Mutations of optineurin in amyotrophic lateral sclerosis
- (2010) Hirofumi Maruyama et al. NATURE
- Long-term potentiation depends on release of d-serine from astrocytes
- (2010) Christian Henneberger et al. NATURE
- Progressive motor weakness in transgenic mice expressing human TDP-43
- (2010) Nancy R. Stallings et al. NEUROBIOLOGY OF DISEASE
- 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
- Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
- (2010) Janel O. Johnson et al. NEURON
- The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study
- (2010) T.A. Mavlyutov et al. NEUROSCIENCE
- VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease
- (2010) Mallikarjun Badadani et al. PLoS One
- Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue
- (2010) Liqun Liu-Yesucevitz 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
- Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism
- (2010) P.-M. Chiang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
- (2010) J. Mitchell 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
- Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP Gene
- (2010) Hongxia Zhou et al. PLoS Genetics
- Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease
- (2009) Manuela Neumann et al. ACTA NEUROPATHOLOGICA
- Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation
- (2009) Takahisa Tateishi et al. ACTA NEUROPATHOLOGICA
- FUS pathology in basophilic inclusion body disease
- (2009) David G. Munoz et al. ACTA NEUROPATHOLOGICA
- Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
- (2009) Clement Y. Chow et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A new subtype of frontotemporal lobar degeneration with FUS pathology
- (2009) M. Neumann et al. BRAIN
- Rethinking ALS: The FUS about TDP-43
- (2009) Clotilde Lagier-Tourenne et al. CELL
- Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2
- (2009) Cole J. Ferguson et al. HUMAN MOLECULAR GENETICS
- 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
- Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
- (2009) Jeong-Sun Ju et al. JOURNAL OF CELL BIOLOGY
- TDP-43 is recruited to stress granules in conditions of oxidative insult
- (2009) Claudia Colombrita et al. JOURNAL OF NEUROCHEMISTRY
- Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration
- (2009) Harro Seelaar et al. JOURNAL OF NEUROLOGY
- 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
- 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
- The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response
- (2008) Mattias K Andersson et al. BMC CELL BIOLOGY
- TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
- (2008) Edor Kabashi et al. NATURE GENETICS
- 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
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