Skeletal muscle: A review of molecular structure and function, in health and disease

K Mukund, S Subramaniam - Wiley Interdisciplinary Reviews …, 2020 - Wiley Online Library
Decades of research in skeletal muscle physiology have provided multiscale insights into
the structural and functional complexity of this important anatomical tissue, designed to …

Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes—a comprehensive review

K Ohno, B Ohkawara, XM Shen, D Selcen… - International journal of …, 2023 - mdpi.com
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

Precision targeting of autoantigen-specific B cells in muscle-specific tyrosine kinase myasthenia gravis with chimeric autoantibody receptor T cells

S Oh, X Mao, S Manfredo-Vieira, J Lee, D Patel… - Nature …, 2023 - nature.com
Muscle-specific tyrosine kinase myasthenia gravis (MuSK MG) is an autoimmune disease
that causes life-threatening muscle weakness due to anti-MuSK autoantibodies that disrupt …

The neuromuscular junction in health and disease: molecular mechanisms governing synaptic formation and homeostasis

PM Rodríguez Cruz, J Cossins, D Beeson… - Frontiers in molecular …, 2020 - frontiersin.org
The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …

Myasthenia gravis—autoantibody characteristics and their implications for therapy

NE Gilhus, GO Skeie, F Romi, K Lazaridis… - Nature reviews …, 2016 - nature.com
Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies that target the
neuromuscular junction, leading to muscle weakness and fatigability. Currently available …

Neuromuscular junction formation, aging, and disorders

L Li, WC Xiong, L Mei - Annual review of physiology, 2018 - annualreviews.org
Synapses, the fundamental unit in neuronal circuits, are critical for learning and memory,
perception, thinking, and reaction. The neuromuscular junction (NMJ) is a synapse formed …

[HTML][HTML] Mechanisms regulating neuromuscular junction development and function and causes of muscle wasting

LA Tintignac, HR Brenner… - Physiological …, 2015 - journals.physiology.org
The neuromuscular junction is the chemical synapse between motor neurons and skeletal
muscle fibers. It is designed to reliably convert the action potential from the presynaptic …

Laminins in basement membrane assembly

E Hohenester, PD Yurchenco - Cell adhesion & migration, 2013 - Taylor & Francis
The heterotrimeric laminins are a defining component of all basement membranes and self-
assemble into a cell-associated network. The three short arms of the cross-shaped laminin …

Cholesterol: its regulation and role in central nervous system disorders

M Orth, S Bellosta - Cholesterol, 2012 - Wiley Online Library
Cholesterol is a major constituent of the human brain, and the brain is the most cholesterol‐
rich organ. Numerous lipoprotein receptors and apolipoproteins are expressed in the brain …

Structures of LRP2 reveal a molecular machine for endocytosis

A Beenken, G Cerutti, J Brasch, Y Guo, Z Sheng… - Cell, 2023 - cell.com
The low-density lipoprotein (LDL) receptor-related protein 2 (LRP2 or megalin) is
representative of the phylogenetically conserved subfamily of giant LDL receptor-related …