Filamin C-related myopathies: pathology and mechanisms. (Q37450673)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23109048%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Filamin C-related myopathies: pathology and mechanisms (English)

1 reference

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16 February 2020

0 references

5

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16 February 2020

author name string

Dieter O Fürst

1

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16 February 2020

Lev G Goldfarb

2

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16 February 2020

Rudolf A Kley

3

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16 February 2020

Matthias Vorgerd

4

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16 February 2020

Peter F M van der Ven

6

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16 February 2020

publication date

30 October 2012

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16 February 2020

published in

Acta Neuropathologica

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16 February 2020

volume

125

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16 February 2020

issue

1

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16 February 2020

page(s)

33-46

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

16 February 2020

cites work

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23 August 2017

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Titin mutation segregates with hereditary myopathy with early respiratory failure

23 August 2017

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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

23 August 2017

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Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

23 August 2017

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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

23 August 2017

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Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

23 August 2017

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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

23 August 2017

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Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy

23 August 2017

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Distal muscular dystrophies

23 August 2017

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23 August 2017

Myofibrillar myopathies

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Towards a knowledge-based Human Protein Atlas

23 August 2017

1 reference

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The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin

23 August 2017

1 reference

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Chaperone-assisted selective autophagy is essential for muscle maintenance

23 August 2017

1 reference

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Myofibrillar myopathies: a clinical and myopathological guide.

23 August 2017

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Protein aggregate myopathies. Introduction

23 August 2017

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Mutation in BAG3 causes severe dominant childhood muscular dystrophy

23 August 2017

1 reference

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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

23 August 2017

1 reference

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Build it up-Tear it down: protein quality control in the cardiac sarcomere

23 August 2017

1 reference

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23 August 2017

Myofibrillar myopathies

1 reference

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Distinct muscle imaging patterns in myofibrillar myopathies.

23 August 2017

1 reference

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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

23 August 2017

1 reference

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Nebulette interacts with filamin C

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Identification of CAP as a costameric protein that interacts with filamin C.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

23 August 2017

1 reference

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Filamins: promiscuous organizers of the cytoskeleton

23 August 2017

1 reference

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Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP

23 August 2017

1 reference

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The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins

23 August 2017

1 reference

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A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

23 August 2017

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The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

23 August 2017

1 reference

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Congenital myopathies at their molecular dawning

23 August 2017

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New N-RAP-binding partners α-actinin, filamin and Krp1 detected by yeast two-hybrid screening: implications for myofibril assembly

23 August 2017

1 reference

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

23 August 2017

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The limits of promiscuity: isoform-specific dimerization of filamins

23 August 2017

1 reference

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Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Structural and functional aspects of filamins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Filamins as integrators of cell mechanics and signalling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Molecular cloning of human ABPL, an actin-binding protein homologue

23 August 2017

1 reference

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Comparative mapping of the actin-binding protein 280 genes in human and mouse

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

23 August 2017

1 reference

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Dominant-negative effects of a novel mutation in the filamin myopathy

23 August 2017

1 reference

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Ponsin interacts with Nck adapter proteins: implications for a role in cytoskeletal remodelling during differentiation of skeletal muscle cells

14 September 2017

1 reference

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DNA sequencing errors in molecular diagnostics of filamin myopathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Structural basis for vertebrate filamin dimerization

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Mutations in two regions of FLNB result in atelosteogenesis I and III.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127197

Dominant-negative effects of a novel mutation in the filamin myopathy

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23109048

12 December 2020

inferred from PubMed ID database lookup

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23109048

12 December 2020

inferred from PubMed ID database lookup

The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23109048

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00401-012-1054-9

1 reference

Fatcat

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30 July 2022

release_ruloojbcjbew3gztujbcxcklqu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ruloojbcjbew3gztujbcxcklqu

30 July 2022

https://api.fatcat.wiki/v0/release/ruloojbcjbew3gztujbcxcklqu

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/ruloojbcjbew3gztujbcxcklqu

PubMed publication ID

1 reference

30 July 2022