Modelling brain diseases in mice: the challenges of design and analysis (Q35097346)

6 August 2017

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title

Modelling brain diseases in mice: the challenges of design and analysis (English)

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6 August 2017

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Huda Y Zoghbi

2

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author name string

Kei Watase

series ordinal

1

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6 August 2017

1 April 2003

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6 August 2017

Nature Reviews Genetics

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6 August 2017

4

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6 August 2017

4

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6 August 2017

296-307

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https://scigraph.springernature.com/pub.10.1038/nrg1045

6 August 2017

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cites work

Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease).

1 reference

Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease

31 March 2020

1 reference

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

31 March 2020

1 reference

Genetic classification of primary neurodegenerative disease.

31 March 2020

1 reference

Toxic proteins in neurodegenerative disease

31 March 2020

1 reference

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

31 March 2020

1 reference

SCA1 molecular genetics: a history of a 13 year collaboration against glutamines

31 March 2020

1 reference

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

31 March 2020

1 reference

Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation

31 March 2020

1 reference

Identification of genes that modify ataxin-1-induced neurodegeneration.

31 March 2020

1 reference

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.

31 March 2020

1 reference

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus

31 March 2020

1 reference

A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.

31 March 2020

1 reference

Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy

31 March 2020

1 reference

Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy

31 March 2020

1 reference

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders

31 March 2020

1 reference

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

31 March 2020

1 reference

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.

31 March 2020

1 reference

Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice.

31 March 2020

1 reference

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

31 March 2020

1 reference

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

31 March 2020

1 reference

A mouse model of spinal and bulbar muscular atrophy.

31 March 2020

1 reference

Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy

31 March 2020

1 reference

SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.

31 March 2020

1 reference

Recent advances in the genetics and pathogenesis of Parkinson disease

31 March 2020

1 reference

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

31 March 2020

1 reference

Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders

31 March 2020

1 reference

Neuropathology in mice expressing human alpha-synuclein

31 March 2020

1 reference

Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein.

31 March 2020

1 reference

Misfolded proteinase K-resistant hyperphosphorylated alpha-synuclein in aged transgenic mice with locomotor deterioration and in human alpha-synucleinopathies

31 March 2020

1 reference

Motor dysfunction and gliosis with preserved dopaminergic markers in human alpha-synuclein A30P transgenic mice

31 March 2020

1 reference

BAC to the future: the use of bac transgenic mice for neuroscience research

31 March 2020

1 reference

Recombineering: a powerful new tool for mouse functional genomics

31 March 2020

1 reference

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

31 March 2020

1 reference

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

31 March 2020

1 reference

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

31 March 2020

1 reference

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

31 March 2020

1 reference

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

31 March 2020

1 reference

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

31 March 2020

1 reference

31 March 2020

Frataxin knockin mouse

1 reference

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

31 March 2020

1 reference

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

31 March 2020

1 reference

The molecular bases of spinal muscular atrophy

31 March 2020

1 reference

A novel nuclear structure containing the survival of motor neurons protein

31 March 2020

1 reference

A mouse model for spinal muscular atrophy

31 March 2020

1 reference

Histological and histochemical changes in skeletal muscle from cases of chronic juvenile and early adult spinal muscular atrophy (the Kugelberg-Welander syndrome).

31 March 2020

1 reference

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

31 March 2020

1 reference

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

31 March 2020

1 reference

Treatment of spinal muscular atrophy by sodium butyrate

31 March 2020

1 reference

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

31 March 2020

1 reference

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

31 March 2020

1 reference

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome

31 March 2020

1 reference

Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti

31 March 2020

1 reference

A decade of molecular studies of fragile X syndrome

31 March 2020

1 reference

Fmr1 knockout mice: A model to study fragile X mental retardation

31 March 2020

1 reference

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

31 March 2020

1 reference

Analysis of neocortex in three males with the fragile X syndrome

31 March 2020

1 reference

Adult fragile X syndrome. Clinico-neuropathologic findings.

31 March 2020

1 reference

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

31 March 2020

1 reference

Abnormal development of dendritic spines in FMR1 knock-out mice

31 March 2020

1 reference

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

31 March 2020

1 reference

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

31 March 2020

1 reference

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

31 March 2020

1 reference

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

31 March 2020

1 reference

Imprinting in Prader-Willi and Angelman syndromes.

31 March 2020

1 reference

31 March 2020

1 reference

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

31 March 2020

1 reference

Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice.

31 March 2020

1 reference

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

31 March 2020

1 reference

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

31 March 2020

1 reference

A potassium channel mutation in neonatal human epilepsy

31 March 2020

1 reference

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

31 March 2020

1 reference

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

31 March 2020

1 reference

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

31 March 2020

1 reference

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

31 March 2020

1 reference

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

31 March 2020

1 reference

Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors

31 March 2020

1 reference

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

31 March 2020

1 reference

Nicotinic receptor function: new perspectives from knockout mice

31 March 2020

1 reference

Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors

31 March 2020

1 reference

Voltage-dependent calcium channel mutations in neurological disease.

31 March 2020

1 reference

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

31 March 2020

1 reference

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

31 March 2020

1 reference

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

31 March 2020

1 reference

Monogenic causes of X-linked mental retardation.

31 March 2020

1 reference

Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.

31 March 2020

1 reference

Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice

31 March 2020

1 reference

HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells

31 March 2020

1 reference

A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice

31 March 2020

1 reference

Characterization of benzodiazepine-sensitive behaviors in the A/J and C57BL/6J inbred strains of mice.

31 March 2020

1 reference

Gene-targeting studies of mammalian behavior: is it the mutation or the background genotype?

31 March 2020

1 reference

Contextual learning and cue association in fear conditioning in mice: a strain comparison and a lesion study.

31 March 2020

1 reference

FVB/N: an inbred mouse strain preferable for transgenic analyses

31 March 2020

1 reference

Behavioral and neuroanatomical characterization of FVB/N inbred mice.

31 March 2020

1 reference

Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice.

31 March 2020

1 reference

Genetic mapping of a mouse modifier gene that can prevent ALS onset

31 March 2020

1 reference

Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

31 March 2020

1 reference

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

31 March 2020

1 reference

An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria

31 March 2020

1 reference

Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis

31 March 2020

1 reference

ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.

31 March 2020

1 reference

Protein misfolding, amyloid formation, and neurodegeneration: a critical role for molecular chaperones?

31 March 2020

1 reference

Prions, peptides and protein misfolding

31 March 2020

1 reference

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

31 March 2020

1 reference

alpha-Galactosidase A deficient mice: a model of Fabry disease

31 March 2020

1 reference

Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice

31 March 2020

1 reference

Gene therapy for Fabry disease

31 March 2020

1 reference

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

31 March 2020

1 reference

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy

31 March 2020

1 reference

Tools for targeted manipulation of the mouse genome

31 March 2020

1 reference

Conditional control of gene expression in the mouse

31 March 2020

1 reference

Application of magnetic resonance to animal models of cerebral ischemia.

31 March 2020

1 reference

Beta-amyloid precursor protein transgenic mice that harbor diffuse A beta deposits but do not form plaques show increased ischemic vulnerability: role of inflammation

31 March 2020

1 reference

Compromised hemodynamic response in amyloid precursor protein transgenic mice.

31 March 2020

1 reference

Imaging physiologic dysfunction of individual hippocampal subregions in humans and genetically modified mice.

31 March 2020

1 reference

In vivo detection of amyloid plaques in a mouse model of Alzheimer's disease

31 March 2020

1 reference

Targeting alzheimer amyloid plaques in vivo

31 March 2020

1 reference

Imaging of amyloid-beta deposits in brains of living mice permits direct observation of clearance of plaques with immunotherapy.

31 March 2020

1 reference

Molecular targeting of Alzheimer's amyloid plaques for contrast-enhanced magnetic resonance imaging

31 March 2020

1 reference

Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease.

31 March 2020

1 reference

Creatine increase survival and delays motor symptoms in a transgenic animal model of Huntington's disease

31 March 2020

1 reference

Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease.

31 March 2020

1 reference

Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease

31 March 2020

1 reference

Dichloroacetate exerts therapeutic effects in transgenic mouse models of Huntington's disease

31 March 2020

1 reference

Therapeutic effects of cystamine in a murine model of Huntington's disease.

31 March 2020

1 reference

Epidermal immunization by a needle-free powder delivery technology: Immunogenicity of influenza vaccine and protection in mice

31 March 2020

1 reference

A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice

31 March 2020

1 reference

Towards new models of disease and physiology in the neurosciences: the role of induced and naturally occurring mutations

31 March 2020

1 reference

List of transgenic and knockout mice: behavioral profiles

31 March 2020

1 reference

Long-term consequences of developmental exposure to aluminum in a suboptimal diet for growth and behavior of Swiss Webster mice

31 March 2020

1 reference

Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations.

31 March 2020

1 reference

Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse

31 March 2020

1 reference

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

31 March 2020

1 reference

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases

31 March 2020

1 reference

Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress

31 March 2020

1 reference

Conservative amino acid substitution in the myelin proteolipid protein of jimpymsd mice

31 March 2020

1 reference

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

31 March 2020

1 reference

Assembly of CNS myelin in the absence of proteolipid protein

31 March 2020

1 reference

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin.

31 March 2020

1 reference

Neurological abnormalities in a knock-in mouse model of Huntington's disease

31 March 2020

1 reference

Generation and characterization of androgen receptor knockout (ARKO) mice: an in vivo model for the study of androgen functions in selective tissues

31 March 2020

1 reference

A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease

31 March 2020

1 reference

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7 January 2021

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Identifiers

DOI

10.1038/NRG1045

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6 August 2017

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PubMed ID

12671660