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Tytuł:
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Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
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Autorzy:
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Korb MK; Departments of Neurology, University of California Irvine, Orange, California, USA.
Kimonis VE; Departments of Pediatrics, University of California Irvine, Orange, California, USA.
Mozaffar T; Departments of Neurology, University of California Irvine, Orange, California, USA.; Departments of Orthopedic Surgery, University of California Irvine, Orange, California, USA.; Departments of Pathology & Laboratory Medicine, University of California Irvine, Orange, California, USA.
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Źródło:
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Muscle & nerve [Muscle Nerve] 2021 Apr; Vol. 63 (4), pp. 442-454. Date of Electronic Publication: 2020 Nov 03.
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Typ publikacji:
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Journal Article; Review
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Język:
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English
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Imprint Name(s):
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Publication: <2005-> : Hoboken, NJ : John Wiley & Sons
Original Publication: New York, NY : John Wiley & Sons
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MeSH Terms:
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Cell Cycle Proteins/*genetics
Motor Neuron Disease/*pathology
RNA-Binding Proteins/*genetics
Valosin Containing Protein/*metabolism
Cell Cycle Proteins/metabolism ; Humans ; Motor Neuron Disease/genetics ; Motor Neuron Disease/metabolism ; Mutation/genetics ; Nuclear Matrix-Associated Proteins/genetics ; Nuclear Matrix-Associated Proteins/metabolism ; RNA-Binding Proteins/metabolism ; Valosin Containing Protein/genetics
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References:
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Contributed Indexing:
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Keywords: Paget disease of bone; VCP; amyotrophic lateral sclerosis; inclusion body myopathy; multiple system proteinopathy
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Substance Nomenclature:
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0 (Cell Cycle Proteins)
0 (Nuclear Matrix-Associated Proteins)
0 (RNA-Binding Proteins)
EC 3.6.4.6 (Valosin Containing Protein)
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Entry Date(s):
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Date Created: 20201104 Date Completed: 20210428 Latest Revision: 20210428
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Update Code:
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20240105
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DOI:
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10.1002/mus.27097
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PMID:
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33145792
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Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause neurodegeneration, myopathy, and bone disease, and share common pathophysiology. Originally referred to as inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD), attributed to mutations in the gene encoding valosin-containing protein (VCP), it has more recently been discovered that there are several other genes responsible for similar clinical and pathological phenotypes with muscle, brain, nerve, and bone involvement, in various combinations. These include heterogeneous nuclear ribonucleoprotein A2B1 and A1 (hnRNPA2B1, hnRNPA1), sequestosome 1 (SQSTM1), matrin 3 (MATR3), T-cell restricted intracellular antigen 1 (TIA1), and optineurin (OPTN), all of which share disruption of RNA stress granule function and autophagic degradation. This review will discuss each of the genes implicated in MSP, exploring the molecular pathogenesis, clinical features, current standards of care, and future directions for this diverse yet mechanistically linked spectrum of disorders.
(© 2020 Wiley Periodicals LLC.)