Molecular and cellular basis of genetically inherited skeletal muscle disorders

JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Genetic therapy for congenital myopathies

N Maani, S Karolczak, JJ Dowling - Current Opinion in Neurology, 2021 - journals.lww.com
Genetic therapy for congenital myopathies : Current Opinion in Neurology Genetic therapy for
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Pharmacological Inhibition of myostatin in a mouse model of typical nemaline myopathy increases muscle size and force

J Lindqvist, H Granzier - International Journal of Molecular Sciences, 2023 - mdpi.com
Nemaline myopathy is one of the most common non-dystrophic congenital myopathies.
Individuals affected by this condition experience muscle weakness and muscle smallness …

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

E Karimi, J Gohlke, M van der Borgh, J Lindqvist… - Acta …, 2024 - Springer
Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in
physiological processes such as regulating thin filament length (TFL), cross-bridge cycling …

The effect of muscle ultrastructure on the force, displacement and work capacity of skeletal muscle

N Dhawale, D Labonte, NC Holt - Journal of the Royal …, 2024 - royalsocietypublishing.org
Skeletal muscle powers animal movement through interactions between the contractile
proteins, actin and myosin. Structural variation contributes greatly to the variation in …

Removal of MuRF1 increases muscle mass in nemaline myopathy models, but does not provide functional benefits

J Lindqvist, J Kolb, J de Winter, P Tonino… - International journal of …, 2022 - mdpi.com
Nemaline myopathy (NM) is characterized by skeletal muscle weakness and atrophy. No
curative treatments exist for this debilitating disease. NM is caused by mutations in proteins …

Characterization of NEB mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

E Karimi, M van der Borgh, J Lindqvist, J Gohlke… - bioRxiv, 2023 - biorxiv.org
Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in
physiological processes such as regulating thin filament length (TFL), cross-bridge cycling …

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

L Sagath, VL Lehtokari, C Wallgren-Pettersson, K Pelin… - Plos one, 2022 - journals.plos.org
The human genome contains repetitive regions, such as segmental duplications, known to
be prone to copy number variation. Segmental duplications are highly identical and …

Nebulin: Size matters for optimal muscle function

K Pelin - Journal of General Physiology, 2021 - rupress.org
Nebulin: Size matters for optimal muscle function | Journal of General Physiology |
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Toward an understanding of myofibrillar function in health and disease

RL Moss, C Cremo, HL Granzier - 2021 - rupress.org
Toward an understanding of myofibrillar function in health and disease | Journal of General
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