Results 201 to 210 of about 28,592 (236)
Some of the next articles are maybe not open access.

ADULTS WITH EOSINOPHILIC MYOSITIS AND CALPAIN-3 MUTATIONS

Neurology, 2008
A recent report found that six patients who presented with eosinophilic myositis in childhood actually had a calpainopathy (LGMD 2A).1 I have encountered two patients previously diagnosed with adult-onset eosinophilic polymyositis who had mutations in the calpain-3 gene ( CAPN3 ). ### Case reports. #### Case 1. A 22-year-old woman presented with a 1-
openaire   +2 more sources

Ca2+ Dependency of Calpain 3 (p94) Activation

Biochemistry, 2006
Calpain 3, commonly called p94 in the literature, is the abundant skeletal muscle-specific calpain that is genetically linked to limb girdle muscular dystrophy type 2A. Recently, we showed that p94's insertion sequence 1 (IS1) is a propeptide that must be autoproteolytically cleaved to provide access of substrates and inhibitors to the enzyme's active ...
Beatriz E, García Díaz   +2 more
openaire   +2 more sources

Calpain-3 is activated following eccentric exercise

Journal of Applied Physiology, 2009
to the editor: In a recent article by Lehti et al. ([3][1]) the effect of fatiguing exercise on the mRNA expression of a number of skeletal muscle proteins was examined. In the discussion it was stated that in a study conducted by our laboratory, calpain-3 mRNA was increased 24 h after a bout ...
Lamb, Graham., Murphy, Robyn Maree.
openaire   +1 more source

Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A

Neuromuscular Disorders, 2009
Immunoblot is currently the preferred laboratory test to assist the diagnosis of limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy). To assess whether immunohistochemistry may offer a reliable alternative screening we used two antibodies, Calp3-2C4 (exon 1) and Calp3-12A2 (exon 8), to label blots and sections of skeletal muscle from controls and ...
Charlton R   +6 more
openaire   +3 more sources

Calpain-3 Deficiency Causes a Mild Muscular Dystrophy in Childhood

Neuropediatrics, 1997
Among our 20 families with LGMD2, 10 were documented to have muscle-specific calcium-activated neutral protease 3 (calpain-3) deficiency. Consanguinity was present in all. The current ages of the index cases were between 12 and 23 years, and there were additional nine members affected.
H, Topaloğlu   +9 more
openaire   +2 more sources

Characterization of the expression profile of calpain-3 (CAPN3) gene in chicken

Molecular Biology Reports, 2011
Calpain-3 is a skeletal muscle-specific protease and participates in the regulation of myogenesis. In this study, we quantified the expression of calpain-3 (CAPN3) mRNA in a Chinese local chicken breed (Sichuan Mountainous Black-boned chicken [MB]), to discern the tissue and ontogenic expression pattern. Meanwhile, we compared the CAPN3 mRNA expression
Zeng-Rong, Zhang   +5 more
openaire   +2 more sources

[Alterations in functional proteins. Calpaine-3 deficiency].

Revista de neurologia, 1999
Muscular dystrophies due to calpain deficiency are the first example of a muscular dystrophy due to the mutation of a gene codifying for a non-structural enzymatic protein of unknown function and substrate.More than 70 mutations have been described in the gene structure, localized to chromosome 15.
A, López de Munain   +9 more
openaire   +1 more source

Novel mutations in the calpain 3 gene in Germany

Clinical Genetics, 2005
A, Todorova, W, Kress, Cr, Mueller
openaire   +2 more sources

Home - About - Disclaimer - Privacy