Results 21 to 30 of about 2,650 (160)

Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling. [PDF]

PLoS ONE, 2010
Calpain 3 (CAPN3) is a cysteine protease that when mutated causes Limb Girdle Muscular Dystrophy 2A. It is thereby the only described Calpain family member that genetically causes a disease.
Antoine de Morrée, David Lutje Hulsik, Antonietta Impagliazzo, Herman H H B M van Haagen, Paula de Galan, Alexandra van Remoortere, Peter A C 't Hoen, Gertjan B van Ommen, Rune R Frants, Silvère M van der Maarel   +9 more
doaj   +1 more source

Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients

Frontiers in Neuroscience, 2021
Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome sequencing (WES), only one mutant allele of CAPN3 is found in a significant number of LGMDR ...
Anna Macias, Jakub Piotr Fichna, Malgorzata Topolewska, Maria J. Rȩdowicz, Anna M. Kaminska, Anna Kostera-Pruszczyk   +5 more
doaj   +1 more source

Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle Progression through Def Recruitment of Calpain3. [PDF]

PLoS Biology, 2016
Digestive organ expansion factor (Def) is a nucleolar protein that plays dual functions: it serves as a component of the ribosomal small subunit processome for the biogenesis of ribosomes and also mediates p53 degradation through the cysteine proteinase ...
Yihong Guan, Delai Huang, Feng Chen, Ce Gao, Ting Tao, Hui Shi, Shuyi Zhao, Zuyuan Liao, Li Jan Lo, Yingchun Wang, Jun Chen, Jinrong Peng   +11 more
doaj   +1 more source

Carrier frequency of 550delA mutation of CAPN3 gene in Croatia [PDF]

Acta myologica, 2002
Aim.To screen general population for 550delA mutation because our previous study showed that calpainopathy (LGMD2A) is the prevalent autosomal recessive muscular dystrophy in Croatia with high frequency of 550delA mutation (63, 8% ; 23/36 of CAPN3 chromosomes). Methods. We used allele specific PCR, which proved to be less time consuming then previously
Grgičević, Damir, Canki-Klain, Nina, Kovač, Biserka, Trlaja, Anuška   +3 more
  +7 more sources

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy [PDF]

Advances in Psychiatry and Neurology
Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek   +6 more
doaj   +2 more sources

Hepatic depletion of nucleolar protein mDEF causes excessive mitochondrial copper accumulation associated with p53 and NRF1 activation

iScience, 2023
Summary: Copper is an essential component in the mitochondrial respiratory chain complex IV (cytochrome c oxidases). However, whether any nucleolar factor(s) is(are) involved in regulating the mitochondrial copper homeostasis remains unclear.
Jinsong Wei, Shuai Wang, Haozhe Zhu, Wei Cui, Jianan Gao, Ce Gao, Bo Yu, Bojing Liu, Jun Chen, Jinrong Peng   +9 more
doaj   +1 more source

Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation

Molecular Therapy: Nucleic Acids, 2023
With thousands of patients worldwide, CAPN3 c.550delA is the most frequent mutation causing severe, progressive, and untreatable limb girdle muscular dystrophy. We aimed to genetically correct this founder mutation in primary human muscle stem cells.
Stefanie Müthel, Andreas Marg, Busem Ignak, Janine Kieshauer, Helena Escobar, Christian Stadelmann, Simone Spuler   +6 more
doaj   +1 more source

Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy [PDF]

Journal of Korean Medical Science, 2007
The limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessively inherited disease caused by a mutation of the calpain 3 gene (CAPN3), and is considered one of the most prevalent subtypes of limb-girdle muscular dystrophy (LGMD). In this study, we aimed to identify CAPN3 mutations and to characterize the phenotype of Korean patients with LGMD2A ...
Shin, Jin-Hong, Kim, Hyang-Suk, Lee, Chang-Hoon, Kim, Cheol-Min, Park, Kyu-Hyun, Kim, Dae-Seong   +5 more
openaire   +2 more sources

Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1

Molecular Therapy: Methods & Clinical Development, 2021
Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene and CAPN3 loss of function, is known to play a role in disease pathogenicity.
Zarife Sahenk, Burcak Ozes, Darren Murrey, Morgan Myers, Kyle Moss, Mehmet E. Yalvac, Alicia Ridgley, Lei Chen, Jerry R. Mendell   +8 more
doaj   +1 more source

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations [PDF]

International Journal of Molecular Sciences, 2019
Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb muscles that usually appears in children and young adults and results in loss of ambulation within 20 years after disease onset in ...
Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, Ainara Vallejo-Illarramendi   +5 more
openaire   +3 more sources