CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. (Q52951368)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25877298%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy (English)

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5 March 2020

5

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5 March 2020

Jaakko Sarparanta

2

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5 March 2020

author name string

Karine Charton

1

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5 March 2020

Anna Vihola

3

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5 March 2020

Astrid Milic

4

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5 March 2020

Laurence Suel

6

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5 March 2020

Helena Luque

7

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5 March 2020

Imène Boumela

8

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5 March 2020

Isabelle Richard

9

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5 March 2020

Bjarne Udd

10

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publication date

15 April 2015

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5 March 2020

published in

Human Molecular Genetics

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5 March 2020

volume

24

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issue

13

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page(s)

3718-3731

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Gigantic business: titin properties and function through thick and thin

5 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Regulation and physiological roles of the calpain system in muscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Myogenic stage, sarcomere length, and protease activity modulate localization of muscle-specific calpain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

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%2FDDV116

Calpain 3: a key regulator of the sarcomere?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Def defines a conserved nucleolar pathway that leads p53 to proteasome-independent degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Tibial muscular dystrophy in a Belgian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Atypical phenotypes in titinopathies explained by second titin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Biophysical characterization of naturally occurring titin M10 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

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%2FDDV116

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Nuclear titin interacts with A- and B-type lamins in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

The structure of the sarcomeric M band: localization of defined domains of myomesin, M-protein, and the 250-kD carboxy-terminal region of titin by immunoelectron microscopy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

GPS-CCD: a novel computational program for the prediction of calpain cleavage sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

On the sequential determinants of calpain cleavage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Ca2+ dependency of calpain 3 (p94) activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Autolytic activation of calpain 3 proteinase is facilitated by calmodulin protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Endogenous calpain-3 activation is primarily governed by small increases in resting cytoplasmic [Ca2+] and is not dependent on stretch

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Purification of native p94, a muscle-specific calpain, and characterization of its autolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Identification and mapping of protein kinase A binding sites in the costameric protein myospryn

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Myospryn is a calcineurin-interacting protein that negatively modulates slow-fiber-type transformation and skeletal muscle regeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

α-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Induction of insulin-like growth factor 1 splice forms by subfragments of myofibrillar proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Stimulation of mechano-growth factor expression by myofibrillar proteins in murine myoblasts and myotubes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Titin is a target of matrix metalloproteinase-2: implications in myocardial ischemia/reperfusion injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Truncations of titin causing dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116

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%2FDDV116

Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV116