Results 31 to 40 of about 2,287 (160)

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

Genomics Insights Into High-Latitude Adaptation of Tibetan Macaques. [PDF]

Adv Sci (Weinh)
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Zhang R, Hu Y, Teng Y, Qi J, Ciren Y, Zhang L, Du Q, Xu W, Zhou L, Fan Z, Xing J, Li M, Li J.   +12 more
europepmc   +2 more sources

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

Chinese Medical Journal, 2016
Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease. Methods: Eighty-nine index patients were included in the study.
Su-Qin Jin, Meng Yu, Wei Zhang, He Lyu, Yun Yuan, Zhao-Xia Wang   +5 more
doaj   +2 more sources

Impaired myogenesis in limb girdle muscular dystrophy type 2B [PDF]

Scientific Reports
The skeletal muscle tissue has a remarkable capacity of growth and regeneration. Fusion of myoblasts and myotubes elongation are fundamental processes in muscle development.
Lucas Santos Souza, Renata Ishiba, Antonio Fernando Ribeiro-Junior, Isabela Aquino Zogbi, Dounia Bouragba, Anne Bigot, Vincent Mouly, Mariz Vainzof   +7 more
doaj   +2 more sources

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy [PDF]

Nature Communications
Dystrophy-associated fer-1-like protein (dysferlin) conducts plasma membrane repair. Mutations in the DYSF gene cause a panoply of genetic muscular dystrophies.
Helena Escobar, Silvia Di Francescantonio, Julia Smirnova, Robin Graf, Stefanie Müthel, Andreas Marg, Alexej Zhogov, Supriya Krishna, Eric Metzler, Mina Petkova, Oliver Daumke, Ralf Kühn, Simone Spuler   +12 more
doaj   +4 more sources

Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. [PDF]

PLoS ONE, 2012
The dysferlinopathies comprise a group of untreatable muscle disorders including limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment syndrome, and rigid spine syndrome.
William E Grose, K Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M Shontz, Chrystal L Montgomery, Sarah Lewis, Robert H Brown, Paul M L Janssen, Jerry R Mendell, Louise R Rodino-Klapac   +10 more
doaj   +4 more sources

Cosegregation of congenital dysferlinopathy phenotype and marinesco–sjögren syndrome: a case report with literature review [PDF]

BMC Pediatrics
The congenital dysferlinopathy phenotype is the rarest and earliest manifestation variant, described in two closely related Spanish and Turkish families, with a homozygous pathogenic frameshift variant in exon 26 of the DYSF gene. This article presents a
Sergey N. Bardakov, Alexey M. Emelin, Sergey S. Nikitin, Vasiliy М. Suslov, Ivan V. Dmitrochenko, Irina S. Kovalevskaya, Polina R. Korzun, Ivan A. Yakovlev, Аrtur А. Isaev, Roman V. Deev   +9 more
doaj   +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