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1
Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50910
Abstract: CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of…
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Keywords:
capn3 roma;
novel intronic;
capn3;
intronic capn3 ... See more keywords
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1
Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24421
Abstract: The investigated intronic CAPN3 variant NM_000070.3:c.1746‐20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on 14 patients carrying the CAPN3…
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Keywords:
calpain related;
20c variant;
capn3 1746;
1746 20c ... See more keywords
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3
Published in 2023 at "Clinical Genetics"
DOI: 10.1111/cge.14330
Abstract: Limb‐girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a specific LGMD caused by a gene mutation encoding the calcium‐dependent neutral cysteine protease calpain‐3 (CAPN3). In our study, the compound heterozygosity with two…
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Keywords:
model;
injury;
capn3;
homozygous mice ... See more keywords
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Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.822563
Abstract: LGMDR1 is caused by mutations in the CAPN3 gene that encodes calpain 3 (CAPN3), a non-lysosomal cysteine protease necessary for proper muscle function. Our previous findings show that CAPN3 deficiency leads to reduced SERCA levels…
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Keywords:
muscle;
serca levels;
ubiquitin proteasome;
protein ... See more keywords