(Q28283658)

2

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Stuart K M Townsend

3

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Terry Hacker

4

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Peter F M van der Ven

5

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Gonzalo Blanco

The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein

6

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language of work or name

English

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publication date

15 November 2004

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published in

Human Molecular Genetics

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volume

13

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page(s)

2863-74

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issue

22

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

A superfamily of archaeal, bacterial, and eukaryotic proteins homologous to animal transglutaminases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Peptide-N-glycanases and DNA repair proteins, Xp-C/Rad4, are, respectively, active and inactivated enzymes sharing a common transglutaminase fold

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Cyk3, a novel SH3-domain protein, affects cytokinesis in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Cloning and developmental expression analysis of ltd-1, the Caenorhabditis elegans homologue of the mouse kyphoscoliosis (ky) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Cardiac myosin binding protein C: its role in physiology and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Molecular analysis of Methanobacterium phage psiM2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Myotilin is mutated in limb girdle muscular dystrophy 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH308