Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A (Q24314667)

2

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V Allamand

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F Fougerousse

4

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N Chiannilkulchai

5

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N Bourg

6

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L Brenguier

7

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C Devaud

8

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P Pasturaud

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C Roudaut

Regional localization of human chromosome 15 loci

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language of work or name

English

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publication date

7 April 1995

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published in

Cell

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volume

81

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issue

1

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page(s)

27-40

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cites work

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Intrinsic potential for high fetal hemoglobin production in a Druz family with beta-thalassemia is due to an unlinked genetic determinant

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Gene structure of calcium-dependent protease retains the ancestral organization of the calcium-binding protein gene

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Degradation of transcription factors, c-Jun and c-Fos, by calpain

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Weight matrix descriptions of four eukaryotic RNA polymerase II promoter elements derived from 502 unrelated promoter sequences

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The promoter-specific transcription factor Sp1 binds to upstream sequences in the SV40 early promoter

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Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface

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The protein Id: a negative regulator of helix-loop-helix DNA binding proteins

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MyoD or Myf-5 is required for the formation of skeletal muscle

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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

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Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy

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Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

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Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15.

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Population frequencies of inherited neuromuscular diseases—A world survey

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Evolutionary origin of a calcium-dependent protease by fusion of genes for a thiol protease and a calcium-binding protein?

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A novel genetic system to detect protein-protein interactions

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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

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Magnetic bead capture of expressed sequences encoded within large genomic segments

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Calmodulin-binding proteins as calpain substrates.

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Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

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Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

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An interactive graphics program for comparing and aligning nucleic acid and amino acid sequences

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Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

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Limited autolysis of calcium-activated neutral protease (CANP): reduction of the Ca2+-requirement is due to the NH2-terminal processing of the large subunit

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Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families

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