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Nesprins: tissue-specific expression of epsilon and other short isoforms

PloS one, 2014-04, Vol.9 (4), p.e94380-e94380

2014

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Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Have Reduced Expression of Proteins Important in Neuronal Development

Frontiers in cellular neuroscience, 2016-01, Vol.9, p.506-506

2016

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The Cajal body

Biochimica et biophysica acta, 2008-11, Vol.1783 (11), p.2108-2115

Morris, Glenn E.

2008

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Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

The Journal of biological chemistry, 2011-11, Vol.286 (44), p.38427-38438

2011

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MSH2 ATPase domain mutation affects CTGCAG repeat instability in transgenic mice

PLoS genetics, 2009-05, Vol.5 (5), p.e1000482

2009

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Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

Nature medicine, 2003-08, Vol.9 (8), p.1009-1014

2003

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Characterization of 65 epitope-specific dystrophin monoclonal antibodies in canine and murine models of duchenne muscular dystrophy by immunostaining and western blot

PloS one, 2014-02, Vol.9 (2), p.e88280-e88280

2014

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Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues

DNA repair, 2013-01, Vol.12 (1), p.46-52

2013

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Primary laminopathy fibroblasts display altered genome organization and apoptosis

Aging cell, 2007-04, Vol.6 (2), p.139-153

2007

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An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs

BMC molecular and cell biology, 2020-12, Vol.21 (1), p.88-88, Article 88

2020

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Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features

PloS one, 2008-12, Vol.3 (12), p.e3968-e3968

2008

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Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Genes to cells : devoted to molecular & cellular mechanisms, 2007-09, Vol.12 (9), p.1035-1048

2007

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Nesprin isoforms: are they inside or outside the nucleus?

Biochemical Society transactions, 2010-02, Vol.38 (Pt 1), p.278

2010

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Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies

Biochemical and biophysical research communications, 2012-07, Vol.424 (2), p.354-357

2012

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Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation

The Journal of clinical investigation, 2002-09, Vol.110 (6), p.807-814

2002

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Phase i study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy

Human gene therapy, 2004-11, Vol.15 (11), p.1065-1076

2004

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Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis

Human molecular genetics, 2017-06, Vol.26 (12), p.2258-2276

2017

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Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

The Journal of clinical investigation, 2014-04, Vol.124 (4), p.1821-1834

2014

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A Direct Interaction between the Survival Motor Neuron Protein and p53 and Its Relationship to Spinal Muscular Atrophy

The Journal of biological chemistry, 2002-01, Vol.277 (4), p.2852-2859

2002

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Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy

Neuromuscular disorders : NMD, 2020-06, Vol.30 (6), p.443-456

2020

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Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

Neuromuscular disorders : NMD, 2015-02, Vol.25 (2), p.137-137

Morris, Glenn E

2015

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Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle

Scientific reports, 2019-10, Vol.9 (1), p.14202-12, Article 14202

2019

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High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Human molecular genetics, 2014-03, Vol.23 (6), p.1551-1562

2014

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In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide

Nature biotechnology, 2000-06, Vol.18 (6), p.615-622

2000

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Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

Scientific reports, 2018-10, Vol.8 (1), p.15728-10, Article 15728

2018

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Nesprins: tissue-specific expression of epsilon and other short isoforms

Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Have Reduced Expression of Proteins Important in Neuronal Development

The Cajal body

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

MSH2 ATPase domain mutation affects CTGCAG repeat instability in transgenic mice

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

Characterization of 65 epitope-specific dystrophin monoclonal antibodies in canine and murine models of duchenne muscular dystrophy by immunostaining and western blot

Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues

Primary laminopathy fibroblasts display altered genome organization and apoptosis

An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs

Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Nesprin isoforms: are they inside or outside the nucleus?

Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies

Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation

Phase i study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy

Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

A Direct Interaction between the Survival Motor Neuron Protein and p53 and Its Relationship to Spinal Muscular Atrophy

Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

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