When lamins go bad: nuclear structure and disease (Q26827624)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

When lamins go bad: nuclear structure and disease (English)

2 references

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26 February 2020

2

1 reference

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26 February 2020

author name string

Katherine H Schreiber

series ordinal

1

1 reference

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26 February 2020

language of work or name

1 reference

1 March 2013

1 reference

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26 February 2020

2 references

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26 February 2020

volume

152

2 references

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26 February 2020

issue

6

2 references

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26 February 2020

page(s)

1365-1375

1 reference

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Mouse models of laminopathies

26 February 2020

cites work

1 reference

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Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

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TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy

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A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model

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Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing

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The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus

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Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

7 April 2017

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Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

7 April 2017

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

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

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

7 April 2017

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

7 April 2017

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

7 April 2017

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Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice

7 April 2017

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LMNA mutations in atypical Werner's syndrome

7 April 2017

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

7 April 2017

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

7 April 2017

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A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

7 April 2017

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Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

7 April 2017

2 references

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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

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

7 April 2017

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Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria

7 April 2017

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A dual role for A-type lamins in DNA double-strand break repair

7 April 2017

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Prelamin A farnesylation and progeroid syndromes

7 April 2017

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Lamin B1 duplications cause autosomal dominant leukodystrophy

7 April 2017

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Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells

7 April 2017

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7 April 2017

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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

7 April 2017

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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

7 April 2017

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Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation

7 April 2017

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Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

7 April 2017

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Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

7 April 2017

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A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

7 April 2017

1 reference

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Nuclear lamina defects cause ATM-dependent NF-κB activation and link accelerated aging to a systemic inflammatory response

7 April 2017

1 reference

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Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

28 September 2017

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A truncated lamin A in the Lmna -/- mouse line: implications for the understanding of laminopathies

28 September 2017

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

28 September 2017

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

28 September 2017

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Nuclear lamin functions and disease

28 September 2017

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Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.

28 September 2017

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Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies

28 September 2017

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Inner nuclear membrane proteins: impact on human disease

28 September 2017

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Nuclear lamina at the crossroads of the cytoplasm and nucleus

28 September 2017

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Post-natal myogenic and adipogenic developmental: defects and metabolic impairment upon loss of A-type lamins.

28 September 2017

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Lamins, laminopathies and disease mechanisms: possible role for proteasomal degradation of key regulatory proteins

28 September 2017

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Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells

28 September 2017

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Investigating the purpose of prelamin A processing

28 September 2017

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LINC complexes in health and disease

28 September 2017

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Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin

28 September 2017

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Functional Coupling between the Extracellular Matrix and Nuclear Lamina by Wnt Signaling in Progeria

28 September 2017

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Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence

28 September 2017

1 reference

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An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria

28 September 2017

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Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene

28 September 2017

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Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes.

28 September 2017

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Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients

28 September 2017

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Novel roles for A-type lamins in telomere biology and the DNA damage response pathway.

28 September 2017

1 reference

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Telomere length in Hutchinson-Gilford progeria syndrome

28 September 2017

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Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta-catenin

28 September 2017

1 reference

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Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells.

28 September 2017

1 reference

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Fast regulation of AP-1 activity through interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear envelope

28 September 2017

1 reference

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Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.

28 September 2017

1 reference

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Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53.

28 September 2017

1 reference

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Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated.

28 September 2017

1 reference

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Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

28 September 2017

1 reference

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Nuclear envelope defects cause stem cell dysfunction in premature-aging mice

28 September 2017

1 reference

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Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutation.

28 September 2017

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Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A.

28 September 2017

1 reference

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Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

28 September 2017

1 reference

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Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy

28 September 2017

1 reference

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

28 September 2017

1 reference

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Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

28 September 2017

1 reference

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Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest

28 September 2017

1 reference

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Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome

28 September 2017

1 reference

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Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

28 September 2017

1 reference

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A-type lamins regulate retinoblastoma protein function by promoting subnuclear localization and preventing proteasomal degradation

28 September 2017

1 reference

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Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Lamin a truncation in Hutchinson-Gilford progeria.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Expression of nuclear envelope lamins A and C in human myeloid leukemias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Phosphorylation of connexin43 on S279/282 may contribute to laminopathy-associated conduction defects.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

ERK1/2 MAP kinases promote cell cycle entry by rapid, kinase-independent disruption of retinoblastoma-lamin A complexes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Nuclear A-type lamins are differentially expressed in human lung cancer subtypes

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Emery–Dreifuss muscular dystrophy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

An association of Hutchinson–Gilford progeria and malignancy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Lamin B-receptor mutations in Pelger-Huët anomaly.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

The role of isoprenylation in membrane attachment of nuclear lamins. A single point mutation prevents proteolytic cleavage of the lamin A precursor and confers membrane binding properties

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202

Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23498943

12 December 2020

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23498943

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23498943

12 December 2020

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23498943

12 December 2020

10.1016/J.CELL.2013.02.015

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

23498943

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json