Results 61 to 70 of about 132 (72)

Figure 6—figure supplement 1. KLHL40 stabilization of LMOD3 is independent of poly-ubiquitination.

core   +1 more source

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism. [PDF]

Human Molecular Genetics, 2023
Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene (KLHL40).
Macarena Cabrera Serrano, Gianina Ravenscroft   +1 more
exaly   +2 more sources

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

Neuromuscular Disorders, 2016
International audienceNemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common
Edoardo Malfatti, Laurent Servais, Julien Fauré   +2 more
exaly   +2 more sources

KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report

Genes
Background: Mutations in the KLHL40 gene are a common cause of severe or even lethal nemaline myopathy. Some cases with mild forms have been described, although the cases are still anecdotal.
Alessandro Orsini, Silvia Frosini, Giada Sgherri   +2 more
exaly   +2 more sources

The dynamics of the β-propeller domain in Kelch protein KLHL40 changes upon nemaline myopathy-associated mutation† [PDF]

RSC Advances, 2016
Evolutionarily widespread, functionally and structurally diverse and still largely unexplored, Kelch proteins, characterized by the presence of a conserved C-terminal β-propeller, are implicated in a number of diverse fundamental biological functions ...
Matteo Lambrughi, Marco Sola, Carlo A. Bortolotti   +2 more
exaly   +2 more sources

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Journal of Clinical Investigation, 2014
Nigel G Laing, Robert Grange, Eric N Olson   +2 more
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8

Neuromuscular Disorders, 2022
N Laing, J Clayton, E Oates
exaly  

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Journal of Neurology, 2016
Cecilia Jimenez-Mallebrera, Juliane Müller, Hanns Lochmüller   +2 more
exaly  

Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state

Brain and Development, 2015
Ichizo Nishino, Tokio Sugiura, Takao Togawa   +2 more
exaly  

Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence

Prenatal Diagnosis, 2016
Lee-Jun C Wong, Tai-Heng Chen, Pao-Lin Kuo   +2 more
exaly