Results 41 to 50 of about 207 (93)

A New Approach to Modeling LGMDR1: Pyrvinium-Treated capn3b crispant Zebrafish

Abstract The lack of an accurate animal model for LGMDR1 is a major obstacle to therapeutic development. While murine models do not replicate the human gene expression profile, zebrafish offers a promising alternative.
Ruiz-Roldán Cristina, Valls Andrea, Immanuel Jenita, De Santis Flavia, Fernández-Torrón Roberto, López de Munain Adolfo, Saenz Amets   +6 more
openaire   +1 more source

IL-32 in limb-girdle muscular dystrophy LGMDR1-calpain 3 related: A Pilot Study on Its Role as a Biomarker

Abstract In LGMDR1-Calpain-3 related, as in all muscular dystrophies, clinical trial monitoring remains a challenge due to the lack of reliable biomarkers. This study assessed IL-32 concentrations in both serum and urine, uncovering a marked increase in patients compared to healthy controls.
Jenita Immanuel, Andrea Valls, Cristina Ruiz, Juan José Poza, Patricia Garay-Albizuri, Roberto Fernández-Torrón, Adolfo López de Munain, Amets Sáenz   +7 more
openaire   +1 more source

Engineering a Cure: Constructing a NonViral Prime Editor for LGMDR1 - Limb Girdle Muscular Dystrophy

This preprint presents a research proposal for a non-viral prime editing therapeutic strategy targeting Limb-girdle muscular dystrophy recessive 1. LGMDR1 is a severely debilitating neuromuscular disorder caused by variations in the CAPN3 gene. Traditional adeno-associated virus gene therapies have struggled with severe safety issues, including fatal ...
openaire   +2 more sources

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

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   +1 more source

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls. [PDF]

Int J Mol Sci, 2023
Magri F, Napoli L, Ripolone M, Ciscato P, Moggio M, Corti S, Comi GP, Sciacco M, Zanotti S.   +8 more
europepmc   +1 more source

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3. [PDF]

J Biol Chem
Hisatsune C, Shinkai-Ouchi F, Hata S, Ono Y.   +3 more
europepmc   +1 more source

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness. [PDF]

Neurol Genet
James MK, Iammarino MA, Reash NF, Steiner CL, Knight AB, Smith MA, Moat D, Michell-Sodhi J, Wong KSW, Grover E, Robinson EJ, Mayhew AG, Eagle M, Elseed M, Guglieri M, Straub V, Marini-Bettolo C, Muni-Lofra R, Diaz-Manera J, Lowes LP, Alfano LN.   +20 more
europepmc   +1 more source

Editorial: Muscular dystrophies: Current therapeutic advances to improve and restore muscle homeostasis. [PDF]

Front Cell Dev Biol, 2022
Bargiela A, Hernández-Torres F.
europepmc   +1 more source

New Pharmacological Approaches for Rare Diseases. [PDF]

Int J Mol Sci, 2023
Ortega-Gutiérrez S.
europepmc   +1 more source