Transmembrane Collagens in Neuromuscular Development and Disorders

Neuromuscular development is a multistep process and involves interactions among various extracellular and transmembrane molecules that facilitate the precise targeting of motor axons to synaptogenic regions of the target muscle. Collagenous proteins with transmembrane domains have recently emerged...

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Main Author: Tomoko Wakabayashi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Molecular Neuroscience
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2020.635375/full
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spelling doaj-54de604288f1459590c07de15ee02acc2021-01-18T05:15:17ZengFrontiers Media S.A.Frontiers in Molecular Neuroscience1662-50992021-01-011310.3389/fnmol.2020.635375635375Transmembrane Collagens in Neuromuscular Development and DisordersTomoko WakabayashiNeuromuscular development is a multistep process and involves interactions among various extracellular and transmembrane molecules that facilitate the precise targeting of motor axons to synaptogenic regions of the target muscle. Collagenous proteins with transmembrane domains have recently emerged as molecules that play essential roles in multiple aspects of neuromuscular formation. Membrane-associated collagens with interrupted triple helices (MACITs) are classified as an unconventional subtype of the collagen superfamily and have been implicated in cell adhesion in a variety of tissues, including the neuromuscular system. Collagen XXV, the latest member of the MACITs, plays an essential role in motor axon growth within the developing muscle. In humans, loss-of-function mutations of collagen XXV result in developmental ocular motor disorders. In contrast, collagen XIII contributes to the formation and maintenance of neuromuscular junctions (NMJs), and disruption of its function leads to the congenital myasthenic syndrome. Transmembrane collagens are conserved not only in mammals but also in organisms such as C. elegans, where a single MACIT, COL-99, has been documented to function in motor innervation. Furthermore, in C. elegans, a collagen-like transmembrane protein, UNC-122, is implicated in the structural and functional integrity of the NMJ. This review article summarizes recent advances in understanding the roles of transmembrane collagens and underlying molecular mechanisms in multiple aspects of neuromuscular development and disorders.https://www.frontiersin.org/articles/10.3389/fnmol.2020.635375/fullcollagenextracellular matrixneuromuscular junction (NMJ)motor neuronaxon guidancemyasthenia gravis
collection DOAJ
language English
format Article
sources DOAJ
author Tomoko Wakabayashi
spellingShingle Tomoko Wakabayashi
Transmembrane Collagens in Neuromuscular Development and Disorders
Frontiers in Molecular Neuroscience
collagen
extracellular matrix
neuromuscular junction (NMJ)
motor neuron
axon guidance
myasthenia gravis
author_facet Tomoko Wakabayashi
author_sort Tomoko Wakabayashi
title Transmembrane Collagens in Neuromuscular Development and Disorders
title_short Transmembrane Collagens in Neuromuscular Development and Disorders
title_full Transmembrane Collagens in Neuromuscular Development and Disorders
title_fullStr Transmembrane Collagens in Neuromuscular Development and Disorders
title_full_unstemmed Transmembrane Collagens in Neuromuscular Development and Disorders
title_sort transmembrane collagens in neuromuscular development and disorders
publisher Frontiers Media S.A.
series Frontiers in Molecular Neuroscience
issn 1662-5099
publishDate 2021-01-01
description Neuromuscular development is a multistep process and involves interactions among various extracellular and transmembrane molecules that facilitate the precise targeting of motor axons to synaptogenic regions of the target muscle. Collagenous proteins with transmembrane domains have recently emerged as molecules that play essential roles in multiple aspects of neuromuscular formation. Membrane-associated collagens with interrupted triple helices (MACITs) are classified as an unconventional subtype of the collagen superfamily and have been implicated in cell adhesion in a variety of tissues, including the neuromuscular system. Collagen XXV, the latest member of the MACITs, plays an essential role in motor axon growth within the developing muscle. In humans, loss-of-function mutations of collagen XXV result in developmental ocular motor disorders. In contrast, collagen XIII contributes to the formation and maintenance of neuromuscular junctions (NMJs), and disruption of its function leads to the congenital myasthenic syndrome. Transmembrane collagens are conserved not only in mammals but also in organisms such as C. elegans, where a single MACIT, COL-99, has been documented to function in motor innervation. Furthermore, in C. elegans, a collagen-like transmembrane protein, UNC-122, is implicated in the structural and functional integrity of the NMJ. This review article summarizes recent advances in understanding the roles of transmembrane collagens and underlying molecular mechanisms in multiple aspects of neuromuscular development and disorders.
topic collagen
extracellular matrix
neuromuscular junction (NMJ)
motor neuron
axon guidance
myasthenia gravis
url https://www.frontiersin.org/articles/10.3389/fnmol.2020.635375/full
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