https://www.mdpi.com/1422-0067/21/17/6429
https://doi.org/10.3390/ijms21176429
https://pubmed.ncbi.nlm.nih.gov/32899400/
TITLE:
The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
ALTERNATIVE TITLE:
None
DATE:
Verify – Wed, 09 Sep 2020 06:00:00 -0400
AUTHORS:
Sara Bachiller,Isabel M Alonso-Bellido,Luis Miguel Real,Eva María Pérez-Villegas,José Luis Venero,Tomas Deierborg,José Ángel Armengol,Rocío Ruiz
SOURCE:
International journal of molecular sciences
DESCRIPTION:
Neuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than 150 different types of NMDs, where the common feature is the loss of muscle strength. These disorders are classified according to their neuroanatomical location, as motor neuron diseases, peripheral nerve diseases, neuromuscular junction diseases, and muscle diseases. Over the years, numerous studies have pointed to protein homeostasis as a crucial factor in the development of these fatal diseases. The…
CONTENT:
Int J Mol Sci. 2020 Sep 3;21(17):E6429. doi: 10.3390/ijms21176429.
ABSTRACT
Neuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than 150 different types of NMDs, where the common feature is the loss of muscle strength. These disorders are classified according to their neuroanatomical location, as motor neuron diseases, peripheral nerve diseases, neuromuscular junction diseases, and muscle diseases. Over the years, numerous studies have pointed to protein homeostasis as a crucial factor in the development of these fatal diseases. The ubiquitin-proteasome system (UPS) plays a fundamental role in maintaining protein homeostasis, being involved in protein degradation, among other cellular functions. Through a cascade of enzymatic reactions, proteins are ubiquitinated, tagged, and translocated to the proteasome to be degraded. Within the ubiquitin system, we can find three main groups of enzymes: E1 (ubiquitin-activating enzymes), E2 (ubiquitin-conjugating enzymes), and E3 (ubiquitin-protein ligases). Only the ubiquitinated proteins with specific chain linkages (such as K48) will be degraded by the UPS. In this review, we describe the relevance of this system in NMDs, summarizing the UPS proteins that have been involved in pathological conditions and neuromuscular disorders, such as Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth disease (CMT), or Duchenne Muscular Dystrophy (DMD), among others. A better knowledge of the processes involved in the maintenance of proteostasis may pave the way for future progress in neuromuscular disorder studies and treatments.
PMID:32899400 | DOI:10.3390/ijms21176429
PUBMED ID:
pubmed:32899400
OTHER ID:
pmid:32899400,doi:10.3390/ijms21176429
PUBLICATION DATE:
Wed, 09 Sep 2020 06:00:00 -0400
2020-09-09
RETRIEVAL DATE :
09/09/20 06:49AM
LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/32899400/?utm_source=Other&utm_medium=rss&utm_campaign=pubmed-2&utm_content=1l7lJQBQXfTBJkL86rnvYKzafMiKbgcUrlv_X8_D_H5EuRmkjR&fc=20200708141943&ff=20200909064914&v=2.11.5
LINK – DOI:
https://doi.org/10.3390/ijms21176429
LINK – FULL TEXT:
Pending
NOTES:
None