Related references
Note: Only part of the references are listed.Verification of CRISPR editing and finding transgenic inserts by Xdrop indirect sequence capture followed by short- and long-read sequencing
Thorarinn Blondal et al.
METHODS (2021)
GENETIC THERAPIES FOR HUNTINGTON'S DISEASE FAIL IN CLINICAL TRIALS
Diana Kwon
NATURE (2021)
Tryptophan residue 32 in human Cu-Zn superoxide dismutase modulates prion-like propagation and strain selection
Anthony Crown et al.
PLOS ONE (2020)
The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Yevgeniya A. Abramzon et al.
FRONTIERS IN NEUROSCIENCE (2020)
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature
Vincent Picher-Martel et al.
JOURNAL OF CHILD NEUROLOGY (2020)
The Cysteine (Cys) Residues Cys-6 and Cys-111 in Mutant Superoxide Dismutase 1 (SOD1) A4V Are Required for Induction of Endoplasmic Reticulum Stress in Amyotrophic Lateral Sclerosis
Emma R. Perri et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2020)
Frameshift peptides alter the properties of truncated FUS proteins in ALS-FUS
Haiyan An et al.
MOLECULAR BRAIN (2020)
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention
Jack Humphrey et al.
NUCLEIC ACIDS RESEARCH (2020)
Loss of Tdp-43 disrupts the axonal transcriptome of motoneurons accompanied by impaired axonal translation and mitochondria function
Michael Briese et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2020)
The role of TDP-43 mislocalization in amyotrophic lateral sclerosis
Terry R. Suk et al.
MOLECULAR NEURODEGENERATION (2020)
Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities
Michelle Stewart et al.
DISEASE MODELS & MECHANISMS (2019)
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report
Peter T. Nelson et al.
BRAIN (2019)
Tryptophan 32 mediates SOD1 toxicity in a in vivo motor neuron model of ALS and is a promising target for small molecule therapeutics
Michele G. DuVal et al.
NEUROBIOLOGY OF DISEASE (2019)
Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis
Shuo-Chien Ling et al.
ELIFE (2019)
Uses for humanised mouse models in precision medicine for neurodegenerative disease
Remya R. Nair et al.
MAMMALIAN GENOME (2019)
ilastik: interactive machine learning for (bio) image analysis
Stuart Berg et al.
NATURE METHODS (2019)
Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis
Francesca De Giorgio et al.
DISEASE MODELS & MECHANISMS (2019)
Large-scale discovery of mouse transgenic integration sites reveals frequent structural variation and insertional mutagenesis
Leslie O. Goodwin et al.
GENOME RESEARCH (2019)
ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair
Joseph R. Klim et al.
NATURE NEUROSCIENCE (2019)
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration
Ze'ev Melamed et al.
NATURE NEUROSCIENCE (2019)
ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?
Rita Mejzini et al.
FRONTIERS IN NEUROSCIENCE (2019)
Minimap2: pairwise alignment for nucleotide sequences
Heng Li
BIOINFORMATICS (2018)
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis
Pietro Fratta et al.
EMBO JOURNAL (2018)
Accurate detection of complex structural variations using single-molecule sequencing
Fritz J. Sedlazeck et al.
NATURE METHODS (2018)
ALS/FTD-Linked Mutation in FUS Suppresses Infra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS
Jone Lopez-Erauskin et al.
NEURON (2018)
Amyotrophic lateral sclerosis
Orla Hardiman et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice
Anny Devoy et al.
BRAIN (2017)
Aneuploidy screening of embryonic stem cell clones by metaphase karyotyping and droplet digital polymerase chain reaction
Gemma F. Codner et al.
BMC CELL BIOLOGY (2016)
Decoding ALS: from genes to mechanism
J. Paul Taylor et al.
NATURE (2016)
Mechanisms and Regulation of Alternative Pre-mRNA Splicing
Yeon Lee et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)
A cysteine residue affects the conformational state and neuronal toxicity of mutant SOD1 in mice: relevance to the pathogenesis of ALS
Seiichi Nagano et al.
HUMAN MOLECULAR GENETICS (2015)
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity
Peter I. Joyce et al.
HUMAN MOLECULAR GENETICS (2015)
Gene Targeting of Mouse Tardbp Negatively Affects Masp2 Expression
Samar Dib et al.
PLOS ONE (2014)
An ALS-associated mutation in the FUS 3′-UTR disrupts a microRNA-FUS regulatory circuitry
Stefano Dini Modigliani et al.
NATURE COMMUNICATIONS (2014)
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Michael I. Love et al.
GENOME BIOLOGY (2014)
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion
Jacqueline C. Mitchell et al.
ACTA NEUROPATHOLOGICA (2013)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
Rachele A. Saccon et al.
BRAIN (2013)
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
Mario Sabatelli et al.
HUMAN MOLECULAR GENETICS (2013)
Genome engineering using the CRISPR-Cas9 system
F. Ann Ran et al.
NATURE PROTOCOLS (2013)
Highly-efficient, fluorescent, locus directed cre and FlpO deleter mice on a pure C57BL/6N genetic background
Marie-Christine Birling et al.
GENESIS (2012)
Sustained Expression of TDP-43 and FUS in Motor Neurons in Rodent's Lifetime
Cao Huang et al.
International Journal of Biological Sciences (2012)
A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis
Abraham Acevedo-Arozena et al.
DISEASE MODELS & MECHANISMS (2011)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Hazel Urwin et al.
ACTA NEUROPATHOLOGICA (2010)
Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice
Ya-Fei Xu et al.
JOURNAL OF NEUROSCIENCE (2010)
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
Hans Wils et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
A new subtype of frontotemporal lobar degeneration with FUS pathology
Manuela Neumann et al.
BRAIN (2009)
Incidence and lifetime risk of motor neuron disease in the United Kingdom: a population-based study
A. Alonso et al.
EUROPEAN JOURNAL OF NEUROLOGY (2009)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance et al.
SCIENCE (2009)
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
T. J. Kwiatkowski et al.
SCIENCE (2009)
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
Ian R. A. Mackenzie et al.
ANNALS OF NEUROLOGY (2007)
Effect of transgene copy number on survival in the G93A SOD1 transgenic mouse model of ALS
GM Alexander et al.
MOLECULAR BRAIN RESEARCH (2004)
High-throughput engineering of the mouse genome coupled with high-resolution expression analysis
DM Valenzuela et al.
NATURE BIOTECHNOLOGY (2003)
Recombineering: A powerful new tool for mouse functional genomics
NG Copeland et al.
NATURE REVIEWS GENETICS (2001)
Share Paper
