Results 51 to 60 of about 631 (138)

LGMD2A gaixotasunaren diagnostiko molekularra

EKAIA Euskal Herriko Unibertsitateko Zientzi eta Teknologi Aldizkaria, 2016
2A motako gerrietako muskulu-distrofia (LGMD2A) CAPN3 geneko mutazioen ondorio den gaixotasun autosomiko azpirakorra da. CAPN3 geneak muskulu eskeletikoan adierazten den kalpaina 3 proteina kodetzen du. Ikerlan honetan, LGMD2A gaixoen diagnostiko molekularra egin da eta MLPA erabili da berrordenatze posibleak identifikatzeko.
openaire   +3 more sources

From Variant Interpretation to Biomarker Translation: Multi‐omics Integration in Inherited Neuromuscular Diseases

Human Mutation, Volume 2026, Issue 1, 2026.
Genetic neuromuscular diseases are highly heterogeneous disorders characterized by diagnostic challenges and limited therapeutic options, underscoring an urgent need for precise biomarkers. The rapid advancement of multi‐omics technologies has broadened biomarker discovery from single genomics to multidimensional integrative analyses encompassing ...
Suming Zhang, Xiaoling Lang, Lunxin Liu, Hao Chi   +3 more
wiley   +1 more source

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene [PDF]

Brain, 2005
We present here the clinical, molecular and biochemical findings from 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing approximately 50% (238 out of 484) of the suspected calpainopathy cases referred for the molecular study of the calpain 3 (CAPN3) gene.
Saenz, A., Leturcq, F., Cobo, A. M., Poza, J. J., Ferrer, X., Otaegui, D., Camano, P., Urtasun, M., Vilchez, J., Gutierrez-Rivas, E., Emparanza, J., Merlini, L., Paisan, C., Goicoechea, M., Blazquez, L., Eymard, B., Lochmüller, H., Walter, M., Bönnemann, C., Figarella-Branger, D., Kaplan, J. C., Urtizberea, J. A., Marti-Masso, J. F., de Munain, A. L.   +23 more
openaire   +3 more sources

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

Annals of Clinical and Translational Neurology, Volume 6, Issue 11, Page 2328-2333, November 2019., 2019
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 intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable.
Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano   +8 more
wiley   +1 more source

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

PLoS ONE, 2017
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno   +3 more
doaj   +1 more source

Limb‐girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies

Muscle &Nerve, Volume 71, Issue 2, Page 138-146, February 2025.
Abstract Limb‐girdle muscular dystrophies (LGMDs) constitute a diverse group of inherited disorders primarily affecting skeletal muscle. Despite the absence of cures, rehabilitative treatments offer potential for preventing and mitigating loss of muscle strength. However, the role of exercise training in LGMD patients remains contentious.
Giorgia D'Este, Mattia Spagna, Sara Federico, Luisa Cacciante, Błażej Cieślik, Pawel Kiper, Rita Barresi   +6 more
wiley   +1 more source

Killing Two Angry Birds with One Stone: Autophagy Activation by Inhibiting Calpains in Neurodegenerative Diseases and Beyond

BioMed Research International, Volume 2019, Issue 1, 2019., 2019
Proteolytic machineries execute vital cellular functions and their disturbances are implicated in diverse medical conditions, including neurodegenerative diseases. Interestingly, calpains, a class of Ca2+‐dependent regulatory proteases, can modulate the degradational system of autophagy by cleaving proteins involved in this pathway.
Jonasz Jeremiasz Weber, Priscila Pereira Sena, Elisabeth Singer, Huu Phuc Nguyen, Gessica Sala   +4 more
wiley   +1 more source

Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy

Molecular Therapy: Methods & Clinical Development, 2019
We delivered plasmid DNA encoding therapeutic genes to the muscles of mouse models of limb girdle muscular dystrophy (LGMD) 2A, 2B, and 2D, deficient in calpain3, dysferlin, and alpha-sarcoglycan, respectively.
Tuhin K. Guha, Christophe Pichavant, Michele P. Calos   +2 more
doaj   +1 more source

Loss of Calpain 3 dysregulates store‐operated calcium entry and its exercise response in mice

The FASEB Journal, Volume 38, Issue 14, 31 July 2024.
In resting control skeletal muscles, store operated Ca2+ entry (SOCE) is low, and sarcoplasmic reticulum (SR) Ca2+ stores are high. Exercise depletes SR Ca2+ and triggers SOCE. Loss of Calpain 3 elevates resting SOCE and disrupts exercise induced SOCE.
Katelyn R. Villani, Renjia Zhong, C. Spencer Henley‐Beasley, Giorgia Rastelli, Erin Harris, Simona Boncompagni, Elisabeth R. Barton, Lan Wei‐LaPierre   +7 more
wiley   +1 more source