Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Seferian, A.; Malfatti, Edoardo; Bosson, Caroline; Pelletier, Laurent; Taytard, Jessica; Forin, V.; Gidaro, T.; Gargaun, E.; Carlier, Pierre; Fauré, Julien; Romero, Norma B.; Rendu, John; Servais, Laurent

doi:10.1016/j.nmd.2016.07.011

Cited by 15 publications

(16 citation statements)

References 22 publications

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“…In humans, mutations in the Klhl40 gene have been associated with various forms of nemaline myopathies [216][217][218][219][220][221][222][223][224]. Intriguingly, acetylcholinesterase inhibition initiated a sustained positive response in a patient with a Klhl40 mutation, suggesting a role for this BTB-domain-containing protein in NMJ formation and function [225].…”

Section: Klhl40/kbtbd5mentioning

confidence: 99%

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease

Blondelle

Biju

Lange

2020

IJMS

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The well-orchestrated turnover of proteins in cross-striated muscles is one of the fundamental processes required for muscle cell function and survival. Dysfunction of the intricate protein degradation machinery is often associated with development of cardiac and skeletal muscle myopathies. Most muscle proteins are degraded by the ubiquitin–proteasome system (UPS). The UPS involves a number of enzymes, including E3-ligases, which tightly control which protein substrates are marked for degradation by the proteasome. Recent data reveal that E3-ligases of the cullin family play more diverse and crucial roles in cross striated muscles than previously anticipated. This review highlights some of the findings on the multifaceted functions of cullin-RING E3-ligases, their substrate adapters, muscle protein substrates, and regulatory proteins, such as the Cop9 signalosome, for the development of cross striated muscles, and their roles in the etiology of myopathies.

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Section: Klhl40/kbtbd5mentioning

confidence: 99%

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease

Blondelle

Biju

Lange

2020

IJMS

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“…22 One patient with a mild form of NM has been reported to be homozygous for a missense mutation, p.Arg500Cys, in KLHL40. 63 This mutation has not been found in the severe cases published to date. 22,64,65 Furthermore, one patient with severe NM due to compound heterozygous mutations in KLHL40 showed prolonged beneficial response to treatment with high-dose acetylcholinesterase inhibitors (pyridostigmine).…”

Section: Dominant Variants Inherited Acrossmentioning

confidence: 84%

Update on the Genetics of Congenital Myopathies

Pelin

Wallgren‐Pettersson

2019

Seminars in Pediatric Neurology

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The congenital myopathies form a large clinically and genetically heterogeneous group of disorders. Currently mutations in at least 27 different genes have been reported to cause a congenital myopathy, but the number is expected to increase due to the accelerated use of next-generation sequencing methods. There is substantial overlap between the causative genes and the clinical and histopathologic features of the congenital myopathies. The mode of inheritance can be autosomal recessive, autosomal dominant or X-linked. Both dominant and recessive mutations in the same gene can cause a similar disease phenotype, and the same clinical phenotype can also be caused by mutations in different genes. Clear genotype-phenotype correlations are few and far between.

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“…The KLHL40 gene, which is predicted to be a cis-regulation gene of LOC105603392 in this study, was reported as a muscle-specific transcript gene locus ( Garg et al, 2014 ). A number of studies have verified that KLHL40 is a key regulatory control gene in sarcomere thin filament growth ( Chen et al, 2016 ; Seferian et al, 2016 ; Winter et al, 2016 ), though its impact on muscle production is still unknown. Our results indicate that LOC105603392 may affect muscle growth through the cis-regulation of KLHL40.…”

Section: Discussionmentioning

confidence: 99%

Sheep skeletal muscle transcriptome analysis reveals muscle growth regulatory lncRNAs

Chao

Hou

et al. 2018

PeerJ

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As widely distributed domestic animals, sheep are an important species and the source of mutton. In this study, we aimed to evaluate the regulatory lncRNAs associated with muscle growth and development between high production mutton sheep (Dorper sheep and Qianhua Mutton Merino sheep) and low production mutton sheep (Small-tailed Han sheep). In total, 39 lncRNAs were found to be differentially expressed. Using co-expression analysis and functional annotation, 1,206 co-expression interactions were found between 32 lncRNAs and 369 genes, and 29 of these lncRNAs were found to be associated with muscle development, metabolism, cell proliferation and apoptosis. lncRNA–mRNA interactions revealed 6 lncRNAs as hub lncRNAs. Moreover, three lncRNAs and their associated co-expressed genes were demonstrated by cis-regulatory gene analyses, and we also found a potential regulatory relationship between the pseudogene lncRNA LOC101121401 and its parent gene FTH1. This study provides a genome-wide resolution of lncRNA and mRNA regulation in muscles from mutton sheep.

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Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Cited by 15 publications

References 22 publications

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease

The Role of Cullin-RING Ligases in Striated Muscle Development, Function, and Disease

Update on the Genetics of Congenital Myopathies

Sheep skeletal muscle transcriptome analysis reveals muscle growth regulatory lncRNAs

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