A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy

Nebulin: big protein with big responsibilities

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Update on the genetics of congenital myopathies

(2019) Katarina Pelin et al.   Seminars in Pediatric Neurology

Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy

(2019) Frank Li et al.   HUMAN MOLECULAR GENETICS

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(2019) Kristl G Claeys   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Ryanodine receptor type 3 (RYR3 ) as a novel gene associated with a myopathy with nemaline bodies

(2018) Y. Nilipour et al.   EUROPEAN JOURNAL OF NEUROLOGY

TNNT1 nemaline myopathy: natural history and therapeutic frontier

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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3  splice variant

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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

(2018) Tamar E. Sztal et al.   Acta Neuropathologica Communications

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy

(2018) Adriana M. Messineo et al.   Scientific Reports

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

(2018) Kohei Hamanaka et al.   GENETICS IN MEDICINE

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

(2018) Kirsi J. Kiiski et al.   NEUROMUSCULAR DISORDERS

Deep intronic mutations and human disease

(2017) Rita Vaz-Drago et al.   HUMAN GENETICS

The determinants of alternative RNA splicing in human cells

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Myopathology in congenital myopathies

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KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

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Nebulin, a multi-functional giant

(2016) Miensheng Chu et al.   JOURNAL OF EXPERIMENTAL BIOLOGY

Roles of Nebulin Family Members in the Heart

(2015) Marie-Louise Bang et al.   CIRCULATION JOURNAL

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

(2015) Michaela Yuen et al.   JOURNAL OF CLINICAL INVESTIGATION

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture

(2015) Hou‐Feng Zheng et al.   NATURE

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

(2014) Vilma-Lotta Lehtokari et al.   HUMAN MUTATION

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

(2014) Ankit Garg et al.   JOURNAL OF CLINICAL INVESTIGATION

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

(2014) Minttu Marttila et al.   Skeletal Muscle

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

(2014) Edoardo Malfatti et al.   Acta Neuropathologica Communications

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

(2013) Vandana A. Gupta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

(2013) Edoardo Malfatti et al.   NEUROMUSCULAR DISORDERS

Expression of multiple nebulin isoforms in human skeletal muscle and brain

(2012) Jenni Laitila et al.   MUSCLE & NERVE

Muscle Biopsy Evaluation in Neuromuscular Disorders

(2012) Nanette C. Joyce et al.   Physical Medicine and Rehabilitation Clinics of North America

The Sarcomeric Protein Nebulin: Another Multifunctional Giant in Charge of Muscle Strength Optimization

(2012) Coen A. C. Ottenheijm et al.   Frontiers in Physiology

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Titin Diversity—Alternative Splicing Gone Wild

(2010) Wei Guo et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Differential splicing of the large sarcomeric protein nebulin during skeletal muscle development

(2010) Danielle Buck et al.   JOURNAL OF STRUCTURAL BIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

(2009) C. A.C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

(2009) Vilma-Lotta Lehtokari et al.   NEUROMUSCULAR DISORDERS