Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation

(2018) Violeta Muñoz-Fuentes et al.   CONSERVATION GENETICS

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

(2018) Pietro Fratta et al.   EMBO JOURNAL

RNS60 exerts therapeutic effects in the SOD1 ALS mouse model through protective glia and peripheral nerve rescue

(2018) Antonio Vallarola et al.   Journal of Neuroinflammation

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

(2018) Matthew A. White et al.   NATURE NEUROSCIENCE

Microglia-mediated recovery from ALS-relevant motor neuron degeneration in a mouse model of TDP-43 proteinopathy

(2018) Krista J. Spiller et al.   NATURE NEUROSCIENCE

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

(2018) Ching-Chieh Chou et al.   NATURE NEUROSCIENCE

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype

(2018) Orly Goldstein et al.   NEUROBIOLOGY OF AGING

Living inside the box: environmental effects on mouse models of human disease

(2018) John P. Sundberg et al.   Disease Models & Mechanisms

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction

(2018) David Gordon et al.   NEUROBIOLOGY OF DISEASE

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

(2018) Jone López-Erauskin et al.   NEURON

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice

(2016) Gen Shiihashi et al.   BRAIN

UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome

(2016) Roland Hjerpe et al.   CELL

Emerging molecular biomarker targets for amyotrophic lateral sclerosis

(2016) Júlia Costa et al.   CLINICA CHIMICA ACTA

Assessment of the upper motor neuron in amyotrophic lateral sclerosis

(2016) William Huynh et al.   CLINICAL NEUROPHYSIOLOGY

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

(2016) Jelena Scekic‐Zahirovic et al.   EMBO JOURNAL

Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis

(2016) Simran J. Kaur et al.   GENE

Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS–FTD-linkedUBQLN2mutations

(2016) Nhat T. T. Le et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43/FUS in motor neuron disease: Complexity and challenges

(2016) Erika N. Guerrero et al.   PROGRESS IN NEUROBIOLOGY

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

(2016) Aarti Sharma et al.   Nature Communications

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

(2016) Paul K. Potter et al.   Nature Communications

Genotype-phenotype correlations of amyotrophic lateral sclerosis

(2016) Hong-Fu Li et al.   Translational Neurodegeneration

Functional recovery in new mouse models of ALS/FTLD after clearance of pathological cytoplasmic TDP-43

(2015) Adam K. Walker et al.   ACTA NEUROPATHOLOGICA

Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin

(2015) Benoît Marin et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis

(2015) C. Tarlarini et al.   EUROPEAN JOURNAL OF NEUROLOGY

Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response

(2015) Frédérique Larroquette et al.   HUMAN MOLECULAR GENETICS

Increased anxiety-like behavior and selective learning impairments are concomitant to loss of hippocampal interneurons in the presymptomatic SOD1(G93A) ALS mouse model

(2015) Eros Quarta et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Off-target Effects in CRISPR/Cas9-mediated Genome Engineering

(2015) Xiao-Hui Zhang et al.   Molecular Therapy-Nucleic Acids

Risk factors for amyotrophic lateral sclerosis

(2015) Fang Fang et al.   Clinical Epidemiology

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS

(2015) Jacqueline C Mitchell et al.   Acta Neuropathologica Communications

Discovery of transgene insertion sites by high throughput sequencing of mate pair libraries

(2014) Anuj Srivastava et al.   BMC GENOMICS

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Cytoplasmic sequestration of FUS/TLS associated with ALS alters histone marks through loss of nuclear protein arginine methyltransferase 1

(2014) Michael Tibshirani et al.   HUMAN MOLECULAR GENETICS

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

(2014) Peter I. Joyce et al.   HUMAN MOLECULAR GENETICS

Mitochondrial Dysfunction and Decrease in Body Weight of a Transgenic Knock-in Mouse Model for TDP-43

(2014) Carola Stribl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

(2014) Haiyan Qiu et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology

(2014) Rosie K. A. Bunton-Stasyshyn et al.   NEUROSCIENTIST

A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects

(2014) Thomas Ricketts et al.   PLoS One

The Lonely Mouse – Single Housing Affects Serotonergic Signaling Integrity Measured by 8-OH-DPAT-Induced Hypothermia in Male Mice

(2014) Otto Kalliokoski et al.   PLoS One

Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutantUBQLN2

(2014) George H. Gorrie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activity-dependent FUS dysregulation disrupts synaptic homeostasis

(2014) C. F. Sephton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Improving Bioscience Research Reporting: The ARRIVE Guidelines for Reporting Animal Research

(2014) Carol Kilkenny et al.   Animals

Transcriptomic indices of fast and slow disease progression in two mouse models of amyotrophic lateral sclerosis

(2013) Giovanni Nardo et al.   BRAIN

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

(2013) Rachele A. Saccon et al.   BRAIN

C57BL/6J congenic Prp-TDP43A315T mice develop progressive neurodegeneration in the myenteric plexus of the colon without exhibiting key features of ALS

(2013) Theo Hatzipetros et al.   BRAIN RESEARCH

Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons

(2013) Leonardo Aliaga et al.   HUMAN MOLECULAR GENETICS

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

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

Neuronal sensitivity to TDP-43 overexpression is dependent on timing of induction

(2012) Ashley Cannon 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

Effect of genetic background on onset and disease progression in the SOD1-G93A model of amyotrophic lateral sclerosis

(2012) Renzo Mancuso et al.   Amyotrophic Lateral Sclerosis

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis

(2012) K. S. Graffmo et al.   HUMAN MOLECULAR GENETICS

A progressive translational mouse model of human valosin-containing protein disease: TheVCPR155H/+mouse

(2012) Angèle Nalbandian et al.   MUSCLE & NERVE

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology

(2012) Angèle Nalbandian et al.   PLoS One

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

Effect of genetic background on phenotype variability in transgenic mouse models of amyotrophic lateral sclerosis: A window of opportunity in the search for genetic modifiers

(2011) Terry D. Heiman-Patterson et al.   Amyotrophic Lateral Sclerosis

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Sensorimotor and cognitive functions in a SOD1G37R transgenic mouse model of amyotrophic lateral sclerosis

(2011) Mohammed Filali et al.   BEHAVIOURAL BRAIN RESEARCH

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments

(2011) Vivek Swarup et al.   BRAIN

A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis

(2011) A. Acevedo-Arozena et al.   Disease Models & Mechanisms

Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice

(2011) Lionel M. Igaz et al.   JOURNAL OF CLINICAL INVESTIGATION

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

(2011) Ya-Fei Xu et al.   Molecular Neurodegeneration

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

(2011) Han-Xiang Deng et al.   NATURE

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

ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development

(2011) Giulietta Riboldi et al.   PROGRESS IN NEUROBIOLOGY

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

(2010) Brian C. Kraemer et al.   ACTA NEUROPATHOLOGICA

Aggregation modulating elements in mutant human superoxide dismutase 1

(2010) Celeste M. Karch et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Structures of mouse SOD1 and human/mouse SOD1 chimeras

(2010) Sai V. Seetharaman et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

SOD1 targeted to the mitochondrial intermembrane space prevents motor neuropathy in the Sod1 knockout mouse

(2010) Lindsey R. Fischer et al.   BRAIN

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

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

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

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Progressive motor weakness in transgenic mice expressing human TDP-43

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

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

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

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

Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse

(2009) L. Wang et al.   HUMAN MOLECULAR GENETICS

Effects of environmental enrichment on the amyotrophic lateral sclerosis mouse model

(2009) A D Sorrells et al.   LABORATORY ANIMALS

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

ENU Mutagenesis, a Way Forward to Understand Gene Function

(2008) Abraham Acevedo-Arozena et al.   Annual Review of Genomics and Human Genetics

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach

(2008) Deng Han-Xiang et al.   HUMAN MOLECULAR GENETICS

Modulation of mutant superoxide dismutase 1 aggregation by co-expression of wild-type enzyme

(2008) Mercedes Prudencio et al.   JOURNAL OF NEUROCHEMISTRY

Neuron-Specific Expression of Mutant Superoxide Dismutase Is Sufficient to Induce Amyotrophic Lateral Sclerosis in Transgenic Mice

(2008) D. Jaarsma et al.   JOURNAL OF NEUROSCIENCE

Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS

(2008) B TURNER et al.   PROGRESS IN NEUROBIOLOGY