Results 1 to 10 of about 188 (83)

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene.
Anabel Rico, Ana Aiastui, Mónica Zufiria   +2 more
exaly   +6 more sources

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study [PDF]

Annals of Clinical and Translational Neurology
Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish ...
Stephanie Hunn, Lindsay N Alfano, Doris G․ Leung   +2 more
exaly   +5 more sources

Patient-specific iPSC-derived cellular models of LGMDR1

Stem Cell Research, 2021
Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain 3 gene, with over 500 mutations
Angel Raya, Adolfo Lopez De Munain
exaly   +7 more sources

Inflammation-Linked Muscle Atrophy in Limb Girdle Muscular Dystrophy R1 (LGMDR1): Insights into Disease Mechanisms [PDF]

Current Issues in Molecular Biology
Background: Muscle atrophy is a major feature of Limb Girdle Muscular Dystrophy R1 (LGMDR1) patients, but its underlying molecular mechanisms have not been fully explored.
Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma, Manoj K. Goyal   +3 more
doaj   +3 more sources

In situ detection of activation of CAPN3, a responsible gene product for LGMDR1, in mouse skeletal myotubes [PDF]

Journal of Biological Chemistry
CAPN3/calpain-3/p94, a muscle-specific Ca2+-dependent cysteine protease, is responsible for limb-girdle muscular dystrophy R1 (LGMDR1), an autosomal recessive muscular dystrophy. However, the activation mechanism and physiological function of CAPN3 in skeletal muscles remain unknown.
Fumiko Shinkai-Ouchi, Shoji Hata, Yasuko Ono   +2 more
exaly   +4 more sources

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related [PDF]

Journal of Neuromuscular Diseases
We aimed to investigate the validity of urinary N-terminal titin (TTN) fragment as a biomarker for limb-girdle muscular dystrophy LGMDR1-calpain 3 related. Thirteen LGMDR1 patients and eleven healthy controls were enrolled for the study. LGMDR1 patients had significantly increased urinary N-terminal titin fragment concentrations than age-matched ...
Roberto Fernández-Torrón, Adolfo Lopez De Munain, Amets Saenz   +2 more
exaly   +5 more sources

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy [PDF]

Cells
Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3’s function in muscle, but its loss results in aberrant sarcomere formation.
Andrea Valls, Cristina Ruiz-Roldán, Jenita Immanuel, Sonia Alonso-Martín, Eduard Gallardo, Roberto Fernández-Torrón, Mario Bonilla, Ana Lersundi, Aurelio Hernández-Laín, Cristina Domínguez-González, Juan Jesús Vílchez, Pablo Iruzubieta, Adolfo López de Munain, Amets Sáenz   +13 more
doaj   +2 more sources

Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations [PDF]

Frontiers in Cell and Developmental Biology, 2022
LGMDR1 is caused by mutations in the CAPN3 gene that encodes calpain 3 (CAPN3), a non-lysosomal cysteine protease necessary for proper muscle function.
Jaione Lasa-Elgarresta, Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Laura Mosqueira-Martín, Klaudia González-Imaz, Pablo Marco-Moreno, Gorka Gerenu, Gorka Gerenu, Gorka Gerenu, Kamel Mamchaoui, Vincent Mouly, Adolfo López de Munain, Adolfo López de Munain, Adolfo López de Munain, Ainara Vallejo-Illarramendi, Ainara Vallejo-Illarramendi, Ainara Vallejo-Illarramendi   +16 more
doaj   +2 more sources

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India [PDF]

Global Medical Genetics, 2022
Calpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are ...
Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini   +16 more
doaj   +2 more sources

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report [PDF]

BMC Musculoskeletal Disorders, 2021
Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene
Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė   +8 more
doaj   +2 more sources