(Q57877560)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16444016%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

review article

1 reference

title

Mouse models of triplet repeat diseases (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16444016%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1

1 reference

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16 January 2020

author name string

Roman Gonitel

series ordinal

2

1 reference

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16 January 2020

publication date

1 February 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16444016%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

published in

Molecular Biotechnology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16444016%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16444016%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16444016%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

147-158

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16444016%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1385/mb:32:2:147

16 January 2020

exact match

0 references

cites work

YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.

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12 December 2020

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

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12 December 2020

Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy

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12 December 2020

Decreased expression of striatal signaling genes in a mouse model of Huntington's disease

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12 December 2020

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

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12 December 2020

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

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12 December 2020

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

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12 December 2020

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

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12 December 2020

RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model

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12 December 2020

Fragile X mice develop sensory hyperreactivity to auditory stimuli

1 reference

12 December 2020

Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7

1 reference

12 December 2020

Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice

1 reference

12 December 2020

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

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12 December 2020

Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders.

1 reference

12 December 2020

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

1 reference

12 December 2020

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

1 reference

12 December 2020

Coenzyme Q10 and remacemide hydrochloride ameliorate motor deficits in a Huntington's disease transgenic mouse model

1 reference

12 December 2020

Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA.

1 reference

12 December 2020

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice

1 reference

12 December 2020

Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA.

1 reference

12 December 2020

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12 December 2020

Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease

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12 December 2020

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease

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12 December 2020

Changes in cortical and striatal neurons predict behavioral and electrophysiological abnormalities in a transgenic murine model of Huntington's disease

1 reference

12 December 2020

Inhibition of myogenesis in transgenic mice expressing the human DMPK 3'-UTR.

1 reference

12 December 2020

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

1 reference

12 December 2020

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

1 reference

12 December 2020

Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease

1 reference

12 December 2020

Pathological cell-cell interactions elicited by a neuropathogenic form of mutant Huntingtin contribute to cortical pathogenesis in HD mice.

1 reference

12 December 2020

Increased survival and neuroprotective effects of BN82451 in a transgenic mouse model of Huntington's disease.

1 reference

12 December 2020

Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice

1 reference

12 December 2020

Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration

1 reference

12 December 2020

Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Overexpression of heat shock protein 70 in R6/2 Huntington's disease mice has only modest effects on disease progression

1 reference

12 December 2020

Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy.

1 reference

12 December 2020

Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development.

1 reference

12 December 2020

Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human

1 reference

12 December 2020

1 reference

12 December 2020

Frataxin knockin mouse

1 reference

12 December 2020

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

1 reference

12 December 2020

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins

1 reference

12 December 2020

Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death

1 reference

12 December 2020

Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene

1 reference

12 December 2020

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

1 reference

12 December 2020

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice

1 reference

12 December 2020

Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice.

1 reference

12 December 2020

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

12 December 2020

A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice

1 reference

12 December 2020

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

1 reference

12 December 2020

DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

1 reference

12 December 2020

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

1 reference

12 December 2020

Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

1 reference

12 December 2020

The protective effects of cystamine in the R6/2 Huntington's disease mouse involve mechanisms other than the inhibition of tissue transglutaminase

1 reference

12 December 2020

Riluzole prolongs survival time and alters nuclear inclusion formation in a transgenic mouse model of Huntington's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Myotonia and muscle contractile properties in mice with SIX5 deficiency.

1 reference

12 December 2020

A muscleblind knockout model for myotonic dystrophy

1 reference

12 December 2020

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

1 reference

12 December 2020

Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.

1 reference

12 December 2020

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

1 reference

12 December 2020

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

1 reference

12 December 2020

Frataxin overexpressing mice.

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuroprotective effects of phenylbutyrate in the N171-82Q transgenic mouse model of Huntington's disease

1 reference

12 December 2020

A decade of molecular studies of fragile X syndrome

1 reference

12 December 2020

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

1 reference

12 December 2020

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.

1 reference

12 December 2020

Identification of benzothiazoles as potential polyglutamine aggregation inhibitors of Huntington's disease by using an automated filter retardation assay

1 reference

12 December 2020

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

1 reference

12 December 2020

Instability of a (CGG)98 repeat in the Fmr1 promoter.

1 reference

12 December 2020

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

1 reference

12 December 2020

Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium

1 reference

12 December 2020

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum

1 reference

12 December 2020

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types

1 reference

12 December 2020

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

1 reference

12 December 2020

RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia.

1 reference

12 December 2020

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

1 reference

12 December 2020

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice

1 reference

12 December 2020

Friedreich ataxia: a paradigm for mitochondrial diseases

1 reference

12 December 2020

Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase

1 reference

12 December 2020

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

1 reference

12 December 2020

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

1 reference

12 December 2020

Fragile X-associated tremor/ataxia syndrome (FXTAS).

1 reference

12 December 2020

Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice.

1 reference

12 December 2020

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1 reference

12 December 2020

Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy.

1 reference

12 December 2020

Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency

1 reference

12 December 2020

Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology.

1 reference

12 December 2020

Of mice and the fragile X syndrome.

1 reference

12 December 2020

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

1 reference

12 December 2020

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

1 reference

12 December 2020

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

1 reference

12 December 2020

Histone Deacetylase Inhibition by Sodium Butyrate Chemotherapy Ameliorates the Neurodegenerative Phenotype in Huntington's Disease Mice

1 reference

12 December 2020

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

1 reference

12 December 2020

Minocycline and doxycycline are not beneficial in a model of Huntington's disease

1 reference

12 December 2020

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

1 reference

12 December 2020

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

1 reference

12 December 2020

Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model by reducing nuclear-localized mutant androgen receptor protein

1 reference

12 December 2020

Essential fatty acids given from conception prevent topographies of motor deficit in a transgenic model of Huntington's disease

1 reference

12 December 2020

Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA.

1 reference

12 December 2020

Dominantly inherited, non-coding microsatellite expansion disorders

1 reference

12 December 2020

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

1 reference

12 December 2020

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

1 reference

12 December 2020

Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice

1 reference

12 December 2020

Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene.

1 reference

12 December 2020

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia

1 reference

12 December 2020

CTG repeat instability and size variation timing in DNA repair-deficient mice

1 reference

12 December 2020

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

1 reference

12 December 2020

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

1 reference

12 December 2020

Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Somatosensory cortical barrel dendritic abnormalities in a mouse model of the fragile X mental retardation syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine

1 reference

12 December 2020

Pathogenic RNA repeats: an expanding role in genetic disease

1 reference

12 December 2020

A mouse model of spinal and bulbar muscular atrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

New insights into fragile X syndrome: from molecules to neurobehaviors

1 reference

12 December 2020

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

1 reference

12 December 2020

Increased trinucleotide repeat instability with advanced maternal age.

1 reference

12 December 2020

Lipoic acid improves survival in transgenic mouse models of Huntington's disease

1 reference

12 December 2020

Enhanced sensitivity to N-methyl-D-aspartate receptor activation in transgenic and knockin mouse models of Huntington's disease

1 reference

12 December 2020

Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice.

1 reference

12 December 2020

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

1 reference

12 December 2020

Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

12 December 2020

Progressive decrease in chaperone protein levels in a mouse model of Huntington's disease and induction of stress proteins as a therapeutic approach

1 reference

12 December 2020

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

1 reference

12 December 2020

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

1 reference

12 December 2020

Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease

1 reference

12 December 2020

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

1 reference

12 December 2020