Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain (Q28594016)

6 July 2017

title

Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain (English)

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6 July 2017

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GOA release 2020-03-11

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Elena Kudryashova

2

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6 July 2017

Kimberly A Huebsch

1

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6 July 2017

Christine M Wooley

3

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6 July 2017

Roger B Sher

4

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6 July 2017

Kevin L Seburn

5

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6 July 2017

Melissa J Spencer

6

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6 July 2017

Gregory A Cox

7

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6 July 2017

publication date

22 August 2005

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6 July 2017

published in

Human Molecular Genetics

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6 July 2017

volume

14

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6 July 2017

issue

19

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6 July 2017

page(s)

2801-2811

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

6 July 2017

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17 March 2017

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Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling

17 March 2017

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17 March 2017

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17 March 2017

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17 March 2017

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

17 March 2017

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Muscle-specific RING finger-1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1

17 March 2017

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The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

17 March 2017

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Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system

17 March 2017

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Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain

17 March 2017

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Myotilin is mutated in limb girdle muscular dystrophy 1A

17 March 2017

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Identification of Ankrd2, a novel skeletal muscle gene coding for a stretch-responsive ankyrin-repeat protein

17 March 2017

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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

17 March 2017

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Accumulation of muscle ankyrin repeat protein transcript reveals local activation of primary myotube endcompartments during muscle morphogenesis

17 March 2017

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

17 March 2017

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Titins: giant proteins in charge of muscle ultrastructure and elasticity

17 March 2017

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Regulation of skeletal muscle stiffness and elasticity by titin isoforms: a test of the segmental extension model of resting tension

17 March 2017

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Gait analysis detects early changes in transgenic SOD1(G93A) mice

17 March 2017

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The kinase domain of titin controls muscle gene expression and protein turnover

29 September 2017

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29 September 2017

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29 September 2017

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Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.

29 September 2017

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

29 September 2017

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Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.

29 September 2017

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Cardiac ankyrin repeat protein is a novel marker of cardiac hypertrophy: role of M-CAT element within the promoter

29 September 2017

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Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events

29 September 2017

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

29 September 2017

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Titin as a scaffold and spring. Cytoskeleton

29 September 2017

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

29 September 2017

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The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line

29 September 2017

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Overshooting production of satellite cells in murine skeletal muscle affected by the mutation "muscular dystrophy with myositis" (mdm, Chr 2).

29 September 2017

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Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle.

3 June 2018

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Muscle-specific RING finger-2 (MURF-2) is important for microtubule, intermediate filament and sarcomeric M-line maintenance in striated muscle development

3 June 2018

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Skeletal Muscle-Specific Calpain, p94, and Connectin/Titin: Their Physiological Functions and Relationship to Limb-Girdle Muscular Dystrophy Type 2A

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI313

The Ankrd2 Protein, a Link Between the Sarcomere and the Nucleus in Skeletal Muscle

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI313

Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI313

Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle

21 January 2018

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The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI313

21 January 2018

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Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI313

Myopathy with respiratory failure and typical myofibrillar lesions

21 January 2018

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Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A

27 November 2018

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12 December 2020

The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin

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12 December 2020

Detection of giant myofibrillar proteins connectin and nebulin by electrophoresis in 2% polyacrylamide slab gels strengthened with agarose

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12 December 2020

Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity

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12 December 2020

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

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12 December 2020

Calcium binding to an elastic portion of connectin/titin filaments

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12 December 2020

Elastic and length-force characteristics of the gastrocnemius of the hopping mouse (Notomys alexis) and the rat (Rattus norvegicus)

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12 December 2020

Titin develops restoring force in rat cardiac myocytes

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDI313

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6 July 2017

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6 July 2017

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