UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD.

التفاصيل البيبلوغرافية
العنوان:	UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD.
المؤلفون:	Lin BC; Program in Neuroscience, University of Maryland School of Medicine, Baltimore, MD, USA.; Center for Biomedical Engineering and Technology, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD, USA., Higgins NR; Center for Biomedical Engineering and Technology, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD, USA.; Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Phung TH; Center for Biomedical Engineering and Technology, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD, USA., Monteiro MJ; Program in Neuroscience, University of Maryland School of Medicine, Baltimore, MD, USA.; Center for Biomedical Engineering and Technology, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD, USA.; Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
المصدر:	The FEBS journal [FEBS J] 2022 Oct; Vol. 289 (20), pp. 6132-6153. Date of Electronic Publication: 2021 Jul 28.
نوع المنشور:	Journal Article; Review; Research Support, N.I.H., Extramural
اللغة:	English
بيانات الدورية:	Publisher: Published by Blackwell Pub. on behalf of the Federation of European Biochemical Societies Country of Publication: England NLM ID: 101229646 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-4658 (Electronic) Linking ISSN: 1742464X NLM ISO Abbreviation: FEBS J Subsets: MEDLINE
أسماء مطبوعة:	Original Publication: Oxford, UK : Published by Blackwell Pub. on behalf of the Federation of European Biochemical Societies, c2005-
مواضيع طبية MeSH:	Amyotrophic Lateral Sclerosis/metabolism , Frontotemporal Dementia/genetics, Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Animals ; Autophagy-Related Proteins/genetics ; Autophagy-Related Proteins/metabolism ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; Mitochondrial Proteins/genetics ; Mutation ; Nuclear Proteins/genetics ; Proteasome Endopeptidase Complex/metabolism ; Ubiquitins/genetics ; Ubiquitins/metabolism
مستخلص:	Ubiquilin (UBQLN) proteins are a dynamic and versatile family of proteins found in all eukaryotes that function in the regulation of proteostasis. Besides their canonical function as shuttle factors in delivering misfolded proteins to the proteasome and autophagy systems for degradation, there is emerging evidence that UBQLN proteins play broader roles in proteostasis. New information suggests the proteins function as chaperones in protein folding, protecting proteins prior to membrane insertion, and as guardians for mitochondrial protein import. In this review, we describe the evidence for these different roles, highlighting how different domains of the proteins impart these functions. We also describe how changes in the structure and phase separation properties of UBQLNs may regulate their activity and function. Finally, we discuss the pathogenic mechanisms by which mutations in UBQLN2 cause amyotrophic lateral sclerosis and frontotemporal dementia. We describe the animal model systems made for different UBQLN2 mutations and how lessons learnt from these systems provide fundamental insight into the molecular mechanisms by which UBQLN2 mutations drive disease pathogenesis through disturbances in proteostasis. (© 2021 Federation of European Biochemical Societies.)
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معلومات مُعتمدة:	R01 NS098243 United States NS NINDS NIH HHS; R01 NS100008 United States NS NINDS NIH HHS; RF1 NS098243 United States NS NINDS NIH HHS
فهرسة مساهمة:	Keywords: ALS; OXPHOS; UBQLN2; mitochondria
المشرفين على المادة:	0 (Adaptor Proteins, Signal Transducing) 0 (Autophagy-Related Proteins) 0 (Cell Cycle Proteins) 0 (Mitochondrial Proteins) 0 (Nuclear Proteins) 0 (Ubiquitins) EC 3.4.25.1 (Proteasome Endopeptidase Complex)
تواريخ الأحداث:	Date Created: 20210717 Date Completed: 20221019 Latest Revision: 20230111
رمز التحديث:	20231215
مُعرف محوري في PubMed:	PMC8761781
DOI:	10.1111/febs.16129
PMID:	34273246
قاعدة البيانات:	MEDLINE

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تدمد:	1742-4658
DOI:	10.1111/febs.16129