(Q54528213)

30 May 2018

title

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. (English)

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30 May 2018

limb-girdle muscular dystrophy

main subject

lymphocyte

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5

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30 May 2018

Juan J. Vílchez

9

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30 May 2018

author name string

L Blázquez

1

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30 May 2018

M Azpitarte

2

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30 May 2018

A Sáenz

3

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30 May 2018

M Goicoechea

4

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30 May 2018

X Ferrer

6

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30 May 2018

I Illa

7

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30 May 2018

E Gutierrez-Rivas

8

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30 May 2018

A López de Munain

10

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30 May 2018

publication date

19 June 2008

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30 May 2018

published in

Neurogenetics

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30 May 2018

volume

9

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30 May 2018

issue

3

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30 May 2018

page(s)

173-182

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30 May 2018

https://scigraph.springernature.com/pub.10.1007/s10048-008-0129-1

exact match

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cites work

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

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Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy

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21 January 2018

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Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin

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Influence of specific regions in Lp82 calpain on protein stability, activity, and localization within lens

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A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

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Lp85 calpain is an enzymatically active rodent-specific isozyme of lens Lp82

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Newly identified exons encoding novel variants of p94/calpain 3 are expressed ubiquitously and overlap the alpha-glucosidase C gene

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Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle

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Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

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Screening of the CAPN3 gene in patients with possible LGMD2A

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12 December 2020

Transcriptional explorations ofCAPN3identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

1 reference

12 December 2020

Muscle pathology in dysferlin deficiency

1 reference

12 December 2020

10.1007/S10048-008-0129-1

Identifiers

DOI

1 reference

30 May 2018

1 reference

30 May 2018