Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features (Q26741163)

Creative Commons Attribution 4.0 International

Europe PubMed Central

title

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features (English)

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author name string

Lorenzo Maggi

series ordinal

1

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Nicola Carboni

series ordinal

2

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Pia Bernasconi

series ordinal

3

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language of work or name

English

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publication date

2016

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1 reference

5

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issue

3

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copyright license

start time

11 August 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody

7 April 2017

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Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

7 April 2017

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

7 April 2017

1 reference

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Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

7 April 2017

1 reference

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Prenylated prelamin A interacts with Narf, a novel nuclear protein

7 April 2017

1 reference

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

7 April 2017

1 reference

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Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C

7 April 2017

1 reference

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Emery-Dreifuss muscular dystrophy - a 40 year retrospective

7 April 2017

1 reference

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Targeting Mitogen-Activated Protein Kinase Signaling in Mouse Models of Cardiomyopathy Caused by Lamin A/C Gene Mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes.

28 September 2017

1 reference

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Border Safety: Quality Control at the Nuclear Envelope

28 September 2017

1 reference

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Nuclear membrane diversity: underlying tissue-specific pathologies in disease?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Lamins at the crossroads of mechanosignaling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Lamins: the structure and protein complexes

28 September 2017

1 reference

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Nuclear envelope and striated muscle diseases

28 September 2017

1 reference

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Diagnostic approach to the congenital muscular dystrophies

28 September 2017

1 reference

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Striated muscle laminopathies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Broken nuclei--lamins, nuclear mechanics, and disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Partners and post-translational modifications of nuclear lamins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

'State-of-the-heart' of cardiac laminopathies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Myoblasts and embryonic stem cells differentially engraft in a mouse model of genetic dilated cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Reactivation of autophagy ameliorates LMNA cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Clinical and genetic heterogeneity in laminopathies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Nuclear lamins and laminopathies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Lamin A/C deficiency as a cause of familial dilated cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

"Laminopathies": a wide spectrum of human diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

The nuclear lamina comes of age.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Proteins that bind A-type lamins: integrating isolated clues

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

The nuclear muscular dystrophies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5040975

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle.

31 May 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Pre-Lamin A processing is linked to heterochromatin organization.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Primary prevention of sudden death in patients with lamin A/C gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

De novo LMNA mutations cause a new form of congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Heart-hand syndrome of Slovenian type: a new kind of laminopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Inflammatory changes in infantile-onset LMNA-associated myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FCELLS5030033

Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

12 December 2020

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

1 reference

12 December 2020

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

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12 December 2020

Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?

1 reference

12 December 2020

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused byLMNAgene mutations

1 reference

12 December 2020

A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery–Dreifuss muscular dystrophy phenotype

1 reference

12 December 2020

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

1 reference

12 December 2020

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

12 December 2020

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

1 reference

12 December 2020

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

12 December 2020

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

1 reference

12 December 2020