Results 71 to 80 of about 3,769 (195)

On the role of dysferlin in striated muscle: membrane repair, t‐tubules and Ca2+ handling

Journal of Physiology
Dysferlin is a 237 kDa membrane‐associated protein characterised by multiple C2 domains with a diverse role in skeletal and cardiac muscle physiology. Mutations in DYSF are known to cause various types of human muscular dystrophies, known collectively as
Topical Review, C. Quinn, E. Cartwright, A. Trafford, K. Dibb, Laura Bennet, Wolfgang A. Linke   +6 more
semanticscholar   +1 more source

Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins

International Journal of Molecular Sciences, 2022
Dysferlinopathies are a clinically heterogeneous group of muscular dystrophies caused by a genetic deficiency of the membrane-associated protein dysferlin, which usually manifest post-growth in young adults.
E. Lloyd, G. Pinniger, M. Grounds, R. Murphy   +3 more
semanticscholar   +1 more source

Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis

Annals of Neurology, Volume 99, Issue 4, Page 1083-1089, April 2026.
The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten, Ana M. Marques, Elisabeth J. Vinke, C. Louk de Mol, Rinze F. Neuteboom, M. Kamran Ikram, Mohsen Ghanbari, Frank J. Wolters, Beatrijs Wokke, Meike W. Vernooij, Joost Smolders   +10 more
wiley   +1 more source

Functions of Vertebrate Ferlins

Cells, 2020
Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
doaj   +1 more source

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Molecular Therapy: Methods & Clinical Development, 2021
Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo, Eun Kyoung Kim, Jaeil Choi, Dae-Seong Kim, Jin-Hong Shin   +4 more
doaj   +1 more source

Impact of OMICS Technologies in Our Understanding of the Pathogenesis of Peri‐Implantitis

Clinical and Experimental Dental Research, Volume 12, Issue 2, April 2026.
ABSTRACT Objectives To evaluate the contribution of OMICS technologies to the understanding of peri‐implantitis pathogenesis from a host immune perspective. Materials and Methods A narrative review was conducted based on electronic searches of PubMed, MEDLINE, and Google Scholar up to October 2025, complemented by manual screening of reference lists ...
Farah Asa'ad, Akira Hasuike, Koki Yoshida, Ronaldo Lira‐Junior, Akhilanand Chaurasia, Paula Milena Giraldo‐Osorno, Carlos Garaicoa‐Pazmino   +6 more
wiley   +1 more source

Comparative analysis of canonical and noncanonical rhodopsins in Amphidinium carterae and Karlodinium veneficum

Journal of Phycology, Volume 62, Issue 2, Page 360-376, April 2026.
Abstract Rhodopsins are ancient and versatile light‐sensitive proteins, widely distributed across microbial life. In dinoflagellates, however, their diversity and function remain poorly understood, owing to the lineage's extreme genomic divergence. Here, we surveyed the rhodopsin complements of two dinoflagellates, Amphidinium carterae and Karlodinium ...
Jens Wira, Miranda Judd, Anne Baldino, Tsvetan Bachvaroff, Allen R. Place   +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

Inhibition of the immunoproteasome modulates innate immunity to ameliorate muscle pathology of dysferlin-deficient BlAJ mice

Cell Death and Disease, 2022
Muscle repair in dysferlinopathies is defective. Although macrophage (Mø)-rich infiltrates are prominent in damaged skeletal muscles of patients with dysferlinopathy, the contribution of the immune system to the disease pathology remains to be fully ...
A. Farini, L. Tripodi, C. Villa, F. Napolitano, F. Strati, D. Molinaro, F. Facciotti, B. Cassani, Y. Torrente   +8 more
semanticscholar   +1 more source

Exon Skipping in a Dysf-Missense Mutant Mouse Model

Molecular Therapy: Nucleic Acids, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Jakub Malcher, Leonie Heidt, Aurélie Goyenvalle, Helena Escobar, Andreas Marg, Cyriaque Beley, Rachid Benchaouir, Michael Bader, Simone Spuler, Luis García, Verena Schöwel   +10 more
doaj   +1 more source