Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G&gt;A, p.Trp25X mutation

Chamova, Teodora; Bichev, Stoyan; Todorov, Tihomir; Господинова, Мариана; Taneva, Ani; Kastreva, Kristina; Zlatareva, Dora; Krupev, Martin; Hadjiivanov, Rosen; Guergueltcheva, Velina; Grozdanova, L; Tzoneva, Д.; Huebner, Angela; Hagen, Maja von der; Schöser, Benedikt; Lochmüller, Hanns; Тодорова, Албена; Tournev, Ivailo

doi:10.1016/j.nmd.2018.05.005

Cited by 15 publications

(3 citation statements)

References 16 publications

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“…TCAP is localized at the Z line of the sarcomere and has been implicated in sarcomere assembly. TCAP knockout mice have been found to develop heart failure with biomechanical stress (Knö ll et al, 2011), and human mutations in TCAP are associated with a form of autosomal recessive limb-girdle muscular dystrophy (AR LGMD) type 2G and dilated cardiomyopathy (Chamova et al, 2018;Francis et al, 2014;Hershberger et al, 2008;Hirtle-Lewis et al, 2013;Knö ll et al, 2002;Markert et al, 2010;Moreira et al, 2000). We show that the circadian E3 ligase FBXL21 governs rhythmic accumulation of TCAP.…”

Section: Discussionmentioning

confidence: 92%

The GSK-3β-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function

et al. 2020

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FBXL21 is a clock-controlled E3 ligase modulating circadian periodicity via subcellular-specific CRYPTO-CHROME degradation. How FBXL21 regulates tissue-specific circadian physiology and what mechanism operates upstream is poorly understood. Here we report the sarcomere component TCAP as a cytoplasmic substrate of FBXL21. FBXL21 interacts with TCAP in a circadian manner antiphasic to TCAP accumulation in skeletal muscle, and circadian TCAP oscillation is disrupted in Psttm mice with an Fbxl21 hypomorph mutation. GSK-3b phosphorylates FBXL21 and TCAP to activate FBXL21-mediated, phosphodegron-dependent TCAP degradation. GSK-3b inhibition or knockdown diminishes FBXL21-Cul1 complex formation and delays FBXL21-mediated TCAP degradation. Finally, Psttm mice show significant skeletal muscle defects, including impaired fiber size, exercise tolerance, grip strength, and response to glucocorticoid-induced atrophy, in conjunction with cardiac dysfunction. These data highlight a circadian regulatory pathway where a GSK-3b-FBXL21 functional axis controls TCAP degradation via SCF complex formation and regulates skeletal muscle function.

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Section: Discussionmentioning

confidence: 92%

The GSK-3β-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function

et al. 2020

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“…Each data point represents the percentage difference between the two sides. LGMDs as well such as telethonin myopathy [33], calpainopathy [34] and dysferlinopathy [35]. Although, asymmetry has been observed in other LGMDs, it has never been investigated systematically with muscle MRI and compared with other LGMDs or other neuromuscular dystrophies.…”

Section: Discussionmentioning

confidence: 99%

“…Women with ANO5-deficiency showed significant asymmetry in all three gluteus muscles. The notion that the disease can be quite asymmetric likely relies on a few outlier muscles clearly presenting as asymmetric, but it does not change the overall findings of a LGMDs as well such as telethonin myopathy [33], calpainopathy [34] and dysferlinopathy [35]. Although, asymmetry has been observed in other LGMDs, it has never been investigated systematically with muscle MRI and compared with other LGMDs or other neuromuscular dystrophies.…”

Section: Discussionmentioning

confidence: 99%

Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency

Khawajazada

Kass

Rudolf

et al. 2021

Euro J of Neurology

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Several muscle diseases are traditionally named after the topography of muscle affection. Attention to the involvement of the axial musculature, however, is scarce, possibly due to the difficulties in assessing strength in these muscles compared with muscles of the limbs and face. Consequently, the involvement of the axial musculature is largely unexplored in muscle diseases [1]. Recently, several magnetic resonance imaging (MRI) studies have described significant involvement of the paraspinal musculature in patients with facioscapulohumeral dystrophy (FSHD) [2], and limb-girdle muscular dystrophy (LMGD) types R1 [3], R2 [4] and R3 [3, 5]. However, no

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Autosomal Recessive Limb-Girdle Muscular Dystrophies

Tanboon,

Nishino

2023

Current Clinical Neurology

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Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation

Cited by 15 publications

References 16 publications

The GSK-3β-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function

The GSK-3β-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function

Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency

Autosomal Recessive Limb-Girdle Muscular Dystrophies

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