Results 21 to 30 of about 1,730 (187)

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
Muscle biopsies from patients across eight neuromuscular disorders and healthy controls were analyzed using immunofluorescence (IF) and immunoblot (WB) to evaluate the expression and localization of seven annexin proteins (A1, A2, A4, A5, A6, A7, A11).
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 more
europepmc   +2 more sources

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

Quantitative Guanidinium CEST-Based pH Mapping at 3 T in Healthy and Pathological Muscle. [PDF]

NMR Biomed
Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Henriet V, Baudin PY, Marty B, Lapert M, Reyngoudt H.   +4 more
europepmc   +2 more sources

The accumulation of muscle RING finger-1 in regenerating myofibers: Implications for muscle repair in immune-mediated necrotizing myopathy

Frontiers in Neurology, 2022
BackgroundMuscle RING finger-1 (MuRF-1) plays a key role in the degradation of skeletal muscle proteins. We hypothesize the involvement of MuRF-1 in immune-mediated necrotizing myopathy (IMNM).MethodsMuscle biopsies from patients with IMNM (n = 37) were ...
Meng-Ge Yang, Qing Zhang, Hong Wang, Xue Ma, Suqiong Ji, Yue Li, Li Xu, Zhuajin Bi, Bitao Bu   +8 more
doaj   +1 more source

P.165 Clinical outcome study of dysferlinopathy: lower limb water T2 predicts functional decline in patients with dysferlinopathy [PDF]

, 2022
Water-T2 (T2H2O) mapping is used in muscular dystrophies to assess disease activity. It has been suggested as a surrogate outcome measure for clinical trials.
Carlier, P, James, M, Smith, F, Straub, V, Moore, U, Blamire, A, Gordish-Dressman, H, Mayhew, A, Manera, J Díaz, Rufibach, L, Wilson, J, Reyngoudt, H, de Almeida Araujo, E Caldas, Stojkovic, T   +13 more
core   +2 more sources

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

BMC Neurology, 2022
Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics.
Ning Wang, Xu Han, Shengpu Hao, Jingzhe Han, Xiaomeng Zhou, Shuyan Sun, Jin Tang, Yanpeng Lu, Hongran Wu, Shaojuan Ma, Xueqin Song, Guang Ji   +11 more
doaj   +1 more source

A Regional Panorama of Dysferlinopathies [PDF]

Turkish Journal of Pathology, 2012
We describe the characteristic features of 11 patients (6 men and 5 women) with dysferlinopathies confirmed by muscle biopsies. In addition, we aimed to provide a realistic comprehensive picture of the severe muscle diseases in the Aegean Region of Turkey.We retrospectively reviewed 90 patients who underwent muscle biopsy examinations between 2008 and ...
Gülden Diniz, Gaye Eryaşar, Sabiha Türe, Ayfer Akçay, Ragıp Ortaç, Hasan Tekgül, Galip Akhan   +6 more
openaire   +3 more sources

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies

Acta Neuropathologica Communications, 2022
The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies.
Nicole Becker, Steven A. Moore, Karra A. Jones   +2 more
doaj   +1 more source

Therapeutic exon ‘switching’ for dysferlinopathies? [PDF]

European Journal of Human Genetics, 2010
We read with interest but also some surprise, the recent ‘Therapeutic exon skipping for Dysferlinopathies?' article by Aartsma-Rus et al,1 published in the Eur J Hum Genet (advance online publication, 10 February 2010; doi:10.1038/ejhg.2010.4). This report contains some inaccuracies and mistakes, and we do not agree with some of its main contents ...
Lévy, Nicolas, Wein, Nicolas, Barthelemy, Florian, Mouly, Vincent, Garcia, Luis, Krahn, Martin, Bartoli, Marc   +6 more
openaire   +2 more sources

Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study [PDF]

, 2022
\ua9 2022 The Authors. Muscle & Nerve published by Wiley Periodicals LLC. INTRODUCTION/AIMS: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy.
Lowes LP, Mayhew AG, Carlier PG, Paradas C, Mori-Yoshimura M, Jacobs M, James MK, Blamire AM, Bourke J, Pestronk A, Mendell JR, Gordish-Dressman H, Diaz-Manera J, Straub V, Walter MC, Bushby K, Guglieri M, Day JW, Jones KJ, Moore U, Stojkovic T, Rufibach LE, Bharucha-Goebel DX, Bravver E, Fernandez-Torron R, Feng J, Spuler S, Harris E, Pegoraro E, Salort-Campana E   +29 more
core   +7 more sources