Nuclear proteins and cell death in inherited neuromuscular disease (Q33933843)

30 July 2017

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title

Nuclear proteins and cell death in inherited neuromuscular disease (English)

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30 July 2017

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Morris GE

1

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30 July 2017

publication date

1 June 2000

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30 July 2017

published in

Neuromuscular Disorders

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30 July 2017

volume

10

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30 July 2017

issue

4-5

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30 July 2017

page(s)

217-227

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Apoptotic pathways: the roads to ruin

30 July 2017

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Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial?

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Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

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7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

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7 January 2021

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

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7 January 2021

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

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Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

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Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

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7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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7 January 2021

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

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Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy

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Demonstration of mechanical connections between integrins, cytoskeletal filaments, and nucleoplasm that stabilize nuclear structure

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7 January 2021

Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy

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7 January 2021

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).

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7 January 2021

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

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7 January 2021

Muscular dystrophies and the dystrophin-glycoprotein complex

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7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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7 January 2021

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

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7 January 2021

Organization of connectin/titin filaments in sarcomeres of differentiating chicken skeletal muscle cells

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7 January 2021

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

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7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

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7 January 2021

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

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7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

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7 January 2021

Coiled bodies and gems: Janus or gemini?

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7 January 2021

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

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7 January 2021

Ultrastructure of the nucleus in relation to transcription and splicing: roles of perichromatin fibrils and interchromatin granules

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7 January 2021

Protein phosphorylation and the nuclear organization of pre-mRNA splicing

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7 January 2021

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

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7 January 2021

The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding.

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7 January 2021

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution

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7 January 2021

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

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7 January 2021

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

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7 January 2021

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

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7 January 2021

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

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7 January 2021

When is a deletion not a deletion? When it is converted

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7 January 2021

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

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7 January 2021

The role of the SMN gene in proximal spinal muscular atrophy

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7 January 2021

Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy

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7 January 2021

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

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7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

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7 January 2021

Myotonic dystrophy reviewed: back to the future?

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7 January 2021

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Identification and expression of six family genes in mouse retina

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7 January 2021

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy

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7 January 2021

The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development

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7 January 2021

Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels

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7 January 2021

Expanding complexity in myotonic dystrophy

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7 January 2021

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat

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7 January 2021

Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

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7 January 2021

Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain

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7 January 2021

Ataxin-3 is transported into the nucleus and associates with the nuclear matrix

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7 January 2021

Heterogeneous intracellular localization and expression of ataxin-3.

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7 January 2021

Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7

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7 January 2021

The androgen receptor as mediator of gene expression and signal transduction pathways

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7 January 2021

Intracellular aggregate formation of dentatorubral-pallidoluysian atrophy (DRPLA) protein with the extended polyglutamine

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7 January 2021

Localization of rabbit huntingtin using a new panel of monoclonal antibodies

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7 January 2021

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

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7 January 2021

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A cellular model that recapitulates major pathogenic steps of Huntington's disease

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7 January 2021

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

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7 January 2021

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

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7 January 2021

Nuclear targeting of mutant Huntingtin increases toxicity

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7 January 2021

Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation

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7 January 2021

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

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7 January 2021

Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

1 reference

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7 January 2021

The linkage of Kennedy's neuron disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator

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7 January 2021

Androgen receptor transactivation domain and control of spermatogenesis

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7 January 2021

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

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7 January 2021

PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival

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7 January 2021

Trinucleotide (CAG) repeat length is positively correlated with the degree of DNA fragmentation in Huntington's disease striatum

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7 January 2021

Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity

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7 January 2021

Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis

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7 January 2021

Caspase-8 is required for cell death induced by expanded polyglutamine repeats.

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7 January 2021

Huntington disease: new insights into the relationship between CAG expansion and disease

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7 January 2021

Expression of polyglutamine-expanded Huntingtin activates the SEK1-JNK pathway and induces apoptosis in a hippocampal neuronal cell line

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

The human poly(A)-binding protein 1 shuttles between the nucleus and the cytoplasm

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7 January 2021

Oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Evidence for at least eight Fanconi anemia genes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

p53-mediated apoptosis is attenuated in Werner syndrome cells

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

The Bloom's syndrome gene product is homologous to RecQ helicases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

1 reference

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7 January 2021

Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR

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7 January 2021

The dystrophinopathies: an alternative to the structural hypothesis

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https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Colocalization of emerin and lamins in interphase nuclei and changes during mitosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

The fragile X mental retardation protein is associated with ribosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Myonuclear apoptosis in dystrophic mdx muscle occurs by perforin-mediated cytotoxicity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900131-5

7 January 2021

10.1016/S0960-8966(99)00131-5

Identifiers

DOI

1 reference

30 July 2017

1 reference