Results 11 to 20 of about 4,375 (200)

A Novel Dysferlin-Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy. [PDF]

FASEB J
When the cell membrane is injured, extracellular calcium enters the cell, triggering the accumulation of dysferlin at the lesion site. In the presence of dysferlin, CK2 is efficiently recruited to the damaged membrane and maintains its kinase activity through interaction with dysferlin.
Nakamura N, Suzuki N, Kanno SI, Yamanaka R, Ono H, Izumi R, Muliang R, Borgo C, Ohno A, Harada R, Saito S, Funayama Y, Ikeda K, Mitsuzawa S, Watanabe Y, Shijo T, Akiyama T, Takahashi T, Kanzaki M, Osana S, Warita H, Aoki Y, Ebihara S, Salvi M, Nagatomi R, Yasui A, Miyake K, Aoki M.   +27 more
europepmc   +2 more sources

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy. [PDF]

Adv Sci (Weinh)
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Wu P, Zhang Z, Zheng K, Zhu Z, Zhu Y, Kiram A, Zhao L, Chen H, Xu Z, Li X, Sun B, Li Z, Xu D.   +12 more
europepmc   +2 more sources

Enhancing the Performance of a Blood-Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across Continents. [PDF]

Neuropathol Appl Neurobiol
We validated an immunohistochemical method for detecting dysferlin in neutrophils from peripheral blood films (PBFs), offering a minimally invasive alternative to muscle biopsy. In an Indian cohort, the assay showed 100% sensitivity. Specificity depended on sample quality and storage conditions.
D'Este G, Cox D, Maistrello L, Emmons SS, Gaitonde P, Dastur R, Barresi R.   +6 more
europepmc   +2 more sources

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies. [PDF]

Eur J Neurol
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
Payá M, Portela S, Sivera R, Frasquet M, Más-Estellés F, Martí P, Azorín I, Aragon-Gawinska K, Tárrega M, Argente-Escrig H, Vázquez-Costa JF, Vilchez R, Vilchez JJ, Sevilla T, Muelas N.   +14 more
europepmc   +2 more sources

An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

Annals of Clinical and Translational Neurology, 2023
The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun, Zhiying Xie, Lu Cong, Yan Xu, Zunjing Liu   +4 more
doaj   +1 more source

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

Physiological Reports, 2023
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles.
Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin   +6 more
doaj   +1 more source

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Biomedicines, 2023
Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli   +8 more
doaj   +1 more source

Null variants in DYSF result in earlier symptom onset

Clinical Genetics, 2021
Abstract We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype–phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF .
Hyung Jun Park, Young Bin Hong, Ji‐Man Hong, UnKyu Yun, Seung Woo Kim, Ha Young Shin, Seung Min Kim, Young‐Chul Choi   +7 more
openaire   +4 more sources

Dysregulation of testis mRNA expression levels in hatchery-produced vs wild greater amberjack Seriola dumerili

Scientific Reports, 2023
Reproductive dysfunctions have been recently documented in male greater amberjack Seriola dumerili caught from the wild and reared in captivity. In the present study, we compared testis transcriptome in wild fish (WILD), hatchery-produced fish with ...
Anna Lavecchia, Caterina Manzari, Chrysovalentinos Pousis, Luigi Mansi, Sharon N. Cox, Constantinos C. Mylonas, Rosa Zupa, Claudio Lo Giudice, Caterina De Virgilio, Ernesto Picardi, Gianluca Ventriglia, Graziano Pesole, Aldo Corriero   +12 more
doaj   +1 more source

4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations

iScience, 2022
Summary: Dysferlinopathies are muscular dystrophies caused by recessive loss-of-function mutations in dysferlin (DYSF), a membrane protein involved in skeletal muscle membrane repair.
Kana Tominaga, Naoomi Tominaga, Eric O. Williams, Laura Rufibach, Verena Schöwel, Simone Spuler, Mohan Viswanathan, Leonard P. Guarente   +7 more
doaj   +1 more source