Mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the death of upper and lower motor neurons. Numerous studies show that structural and functional impairments of neuromuscular junctions (NMJ) occur as early as the presymptomatic stage of ALS. NMJ involv...

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Main Authors: Aydar N. Khabibrakhmanov, Liaisan A. Akhmadieva, Kerim K. Nagiev, Marat A. Mukhamedyarov
Format: Article
Language:English
Published: Research Center of Neurology 2025-04-01
Series:Анналы клинической и экспериментальной неврологии
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Online Access:https://annaly-nevrologii.com/pathID/article/viewFile/1070/pdf
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author Aydar N. Khabibrakhmanov
Liaisan A. Akhmadieva
Kerim K. Nagiev
Marat A. Mukhamedyarov
author_facet Aydar N. Khabibrakhmanov
Liaisan A. Akhmadieva
Kerim K. Nagiev
Marat A. Mukhamedyarov
author_sort Aydar N. Khabibrakhmanov
collection DOAJ
description Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the death of upper and lower motor neurons. Numerous studies show that structural and functional impairments of neuromuscular junctions (NMJ) occur as early as the presymptomatic stage of ALS. NMJ involvement is independent and one of the primary events in ALS pathogenesis. Aim: to review the data on characteristics and mechanisms of NMJ dysfunction at pre- and postsynaptic levels in ALS patients and a transgenic animal model of the disease. Furthermore, we report on the dysfunction of perisynaptic Schwann cells and impaired mechanisms of motor neuron and skeletal muscle interaction in ALS, with a focus on reviewed publications on targeting of molecular mechanisms underlying NMJ dysfunction and disruption in ALS. The NMJ may be a potential target for novel therapeutic approaches for ALS.
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2409-2533
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publisher Research Center of Neurology
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series Анналы клинической и экспериментальной неврологии
spelling doaj-art-df492f7c65d34c57907296597f72ecbb2025-08-20T02:20:10ZengResearch Center of NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-25332025-04-01191536110.17816/ACEN.1070721Mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosisAydar N. Khabibrakhmanov0https://orcid.org/0000-0001-5625-8658Liaisan A. Akhmadieva1https://orcid.org/0009-0000-4926-3192Kerim K. Nagiev2https://orcid.org/0009-0000-1577-9780Marat A. Mukhamedyarov3https://orcid.org/0000-0002-0397-9002Kazan State Medical UniversityKazan State Medical UniversityKazan State Medical UniversityKazan State Medical UniversityAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the death of upper and lower motor neurons. Numerous studies show that structural and functional impairments of neuromuscular junctions (NMJ) occur as early as the presymptomatic stage of ALS. NMJ involvement is independent and one of the primary events in ALS pathogenesis. Aim: to review the data on characteristics and mechanisms of NMJ dysfunction at pre- and postsynaptic levels in ALS patients and a transgenic animal model of the disease. Furthermore, we report on the dysfunction of perisynaptic Schwann cells and impaired mechanisms of motor neuron and skeletal muscle interaction in ALS, with a focus on reviewed publications on targeting of molecular mechanisms underlying NMJ dysfunction and disruption in ALS. The NMJ may be a potential target for novel therapeutic approaches for ALS.https://annaly-nevrologii.com/pathID/article/viewFile/1070/pdfamyotrophic lateral sclerosisneuromuscular junctionnerve terminalskeletal musclemotor unit
spellingShingle Aydar N. Khabibrakhmanov
Liaisan A. Akhmadieva
Kerim K. Nagiev
Marat A. Mukhamedyarov
Mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosis
Анналы клинической и экспериментальной неврологии
amyotrophic lateral sclerosis
neuromuscular junction
nerve terminal
skeletal muscle
motor unit
title Mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosis
title_full Mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosis
title_fullStr Mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosis
title_full_unstemmed Mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosis
title_short Mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosis
title_sort mechanisms of neuromuscular junction dysfunction in amyotrophic lateral sclerosis
topic amyotrophic lateral sclerosis
neuromuscular junction
nerve terminal
skeletal muscle
motor unit
url https://annaly-nevrologii.com/pathID/article/viewFile/1070/pdf
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