Results 21 to 30 of about 258 (116)

Case report: A single novel calpain 3 gene variant associated with mild myopathy [PDF]

Frontiers in Genetics
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described.
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis, Marina Grandis   +20 more
doaj   +2 more sources

Generation of new LGMDR1 models with CRISPR/Cas9 and studies to expand insight into the disease. [PDF]

, 2022
La LGMDR1 es la forma más común de las distrofias musculares de cinturas, y está causada por mutaciones en el gen CAPN3. Este gen codifica la proteína calpaína 3, una proteasa no lisosomal que se expresa principalmente en el músculo esquelético. La enfermedad, que actualmente no tiene cura ni tratamiento disponible, se caracteriza clínicamente por una ...
Dehesa Etxebeste, Martxel Pedro
core   +3 more sources

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy

Muscle &Nerve, Volume 69, Issue 4, Page 472-476, April 2024.
Abstract Introduction/Aims Limb‐girdle muscular dystrophy R1 (LGMDR1) calpain 3‐related usually presents as a recessively transmitted weakness of proximal limb‐girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4)
Andrea Valls, Gerardo Gutiérrez‐Gutiérrez, Agustín Martínez, Cristina Ruiz‐Roldán, Pilar Camaño, Adolfo López de Munain, Amets Sáenz   +6 more
wiley   +2 more sources

Additional file 5 of Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

, 2023
Additional file 5: Table S2. Used antibodies.
Rico, Anabel, Valls, Andrea, Guembelzu, Garazi, Azpitarte, Margarita, Aiastui, Ana, Zufiria, Mónica, Jaka, Oihane, López de Munain, Adolfo, Sáenz, Amets   +8 more
openaire   +2 more sources

Quantitative muscle magnetic resonance imaging in limb-girdle muscular dystrophy type R1 (LGMDR1)

Limb-girdle muscular dystrophy (LGMD) type R1 (LGMDR1) is the most common subtype of LGMD in Europe. Prospective longitudinal data, including clinical assessments and new biomarkers such as quantitative magnetic resonance imaging (qMRI), are needed to evaluate the natural course of the disease and therapeutic options. We evaluated eight thigh and seven
Forsting, Johannes (Dr. med.), Wächter, Marian, Froeling, Martijn (Dr. ir.), Rohm, Marlena (M. Sc.), Güttsches, Anne-Katrin (Dr. med.), De Lorenzo, Alice, Südkamp, Nicolina Nathalie (Dr. med.), Kocabaş, Abdulhadi (Dr. med.), Vorgerd, Matthias (Prof. Dr. med.), Enax-Krumova, Elena (Jun.-Prof. Dr. med.), Rehmann, Robert (Dr. med.), Schlaffke, Lara (PD Dr. rer. nat.)   +11 more
openaire   +2 more sources

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3. [PDF]

Muscle Nerve
ABSTRACT Introduction A 20 kDa fragment at the N‐terminus of titin is highly excreted in the urine of patients with Duchenne muscular dystrophy (DMD), making urine titin a prominent biomarker for muscle breakdown. This N‐terminal fragment is presumed to be a product of degradation by a protein‐degrading enzyme, calpain 3; however, whether calpain 3 is ...
Nambu Y, Matsumura T, Machida K, Tsutsumi R, Hata S, Shinkai-Ouchi F, Ono Y, Osawa K, Shirakawa T, Bo R, Nishio H, Sakaue H, Awano H, Matsuo M.   +13 more
europepmc   +2 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +2 more sources

A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging. [PDF]

Brain Pathol, 2023
Brain Pathology, Volume 33, Issue 5, September 2023.
Tanboon J, El Sherif R, Inoue M, Okubo M, Malfatti E, Nishino I.   +5 more
europepmc   +2 more sources

Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications. [PDF]

Am J Case Rep
BACKGROUND: Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene.
Maya-González C, Díaz De Ståhl T, Wessman S, Taylan F, Tesi B, Lagerstedt-Robinson K, Tettamanti G, Dukic M, Poluha A, Ljungman G, Nordgren A.   +10 more
europepmc   +2 more sources

Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related. [PDF]

Int J Mol Sci, 2021
18 p.-8 fig.-1 tab.Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy produced by mutations in the CAPN3 gene.
Rico A, Guembelzu G, Palomo V, Martínez A, Aiastui A, Casas-Fraile L, Valls A, López de Munain A, Sáenz A.   +8 more
europepmc   +2 more sources