(Q53309822)

13 May 2018

title

Myofibrillar instability exacerbated by acute exercise in filaminopathy. (English)

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13 May 2018

author

Stephan von Hörsten

10

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13 May 2018

Ursula Schlötzer-Schrehardt

8

object named as

Ursula Schlötzer-Schrehardt

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13 May 2018

Frédéric Chevessier

1

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13 May 2018

Julia Schuld

2

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13 May 2018

Zacharias Orfanos

3

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13 May 2018

Anne-C Plank

4

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13 May 2018

Lucie Wolf

5

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13 May 2018

Alexandra Maerkens

6

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13 May 2018

Andreas Unger

7

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13 May 2018

Rudolf A Kley

9

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13 May 2018

Katrin Marcus

11

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13 May 2018

Wolfgang A Linke

12

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13 May 2018

Matthias Vorgerd

13

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13 May 2018

Peter F M van der Ven

14

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13 May 2018

Dieter O Fürst

15

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13 May 2018

Rolf Schröder

16

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13 May 2018

publication date

15 October 2015

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13 May 2018

published in

Human Molecular Genetics

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13 May 2018

volume

24

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13 May 2018

issue

25

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13 May 2018

page(s)

7207-7220

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13 May 2018

Myofibrillar myopathies: a clinical and myopathological guide.

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

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

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

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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

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

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Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

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A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients

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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.

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

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The biological role of the Alzheimer amyloid precursor protein in epithelial cells

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Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling

21 January 2018

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Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.

21 January 2018

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Chaperone-assisted selective autophagy is essential for muscle maintenance

21 January 2018

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Cellular mechanotransduction relies on tension-induced and chaperone-assisted autophagy

21 January 2018

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

21 January 2018

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21 January 2018

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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

21 January 2018

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21 January 2018

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

21 January 2018

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The limits of promiscuity: isoform-specific dimerization of filamins

21 January 2018

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

21 January 2018

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Novel interactions of ankyrins-G at the costameres: the muscle-specific Obscurin/Titin-Binding-related Domain (OTBD) binds plectin and filamin C

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDV421

1 reference

13 May 2018

1 reference

13 May 2018