Abstract:
:Torsin ATPases (Torsins) belong to the widespread AAA+ (ATPases associated with a variety of cellular activities) family of ATPases, which share structural similarity but have diverse cellular functions. Torsins are outliers in this family because they lack many characteristics of typical AAA+ proteins, and they are the only members of the AAA+ family located in the endoplasmic reticulum and contiguous perinuclear space. While it is clear that Torsins have essential roles in many, if not all metazoans, their precise cellular functions remain elusive. Studying Torsins has significant medical relevance since mutations in Torsins or Torsin-associated proteins result in a variety of congenital human disorders, the most frequent of which is early-onset torsion (DYT1) dystonia, a severe movement disorder. A better understanding of the Torsin system is needed to define the molecular etiology of these diseases, potentially enabling corrective therapy. Here, we provide a comprehensive overview of the Torsin system in metazoans, discuss functional clues obtained from various model systems and organisms and provide a phylogenetic and structural analysis of Torsins and their regulatory cofactors in relation to disease-causative mutations. Moreover, we review recent data that have led to a dramatically improved understanding of these machines at a molecular level, providing a foundation for investigating the molecular defects underlying the associated movement disorders. Lastly, we discuss our ideas on how recent progress may be utilized to inform future studies aimed at determining the cellular role(s) of these atypical molecular machines and their implications for dystonia treatment options.
journal_name
Crit Rev Biochem Mol Bioljournal_title
Critical reviews in biochemistry and molecular biologyauthors
Rose AE,Brown RS,Schlieker Cdoi
10.3109/10409238.2015.1091804subject
Has Abstractpub_date
2015-01-01 00:00:00pages
532-49issue
6eissn
1040-9238issn
1549-7798journal_volume
50pub_type
杂志文章,评审abstract::HEPN (Higher Eukaryotes and Prokaryotes Nucleotide-binding) RNases are an emerging class of functionally diverse RNA processing and degradation enzymes. Members are defined by a small α-helical bundle encompassing a short consensus RNase motif. HEPN dimerization is a universal requirement for RNase activation as the c...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章
doi:10.1080/10409238.2020.1856769
更新日期:2021-02-01 00:00:00
abstract::The lytic transglycosylases (LTs) are bacterial enzymes that catalyze the non-hydrolytic cleavage of the peptidoglycan structures of the bacterial cell wall. They are not catalysts of glycan synthesis as might be surmised from their name. Notwithstanding the seemingly mundane reaction catalyzed by the LTs, their lytic...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409238.2017.1337705
更新日期:2017-10-01 00:00:00
abstract::Small regulatory RNAs can modify the activity of proteins and the stability and translation of mRNAs. They have now been found in a wide range of organisms, and can play previously unsuspected critical regulatory roles. The bacterial small RNAs include two major classes. The largest family(with at least 20 members in ...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409230590918702
更新日期:2005-03-01 00:00:00
abstract::O-linked β-N-acetylglucosamine (O-GlcNAc) is a regulatory post-translational modification of intracellular proteins. The dynamic and inducible cycling of the modification is governed by O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA) in response to UDP-GlcNAc levels in the hexosamine biosynthetic pathway (HBP). Due t...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409238.2014.884535
更新日期:2014-03-01 00:00:00
abstract::We know of three routes that organisms have evolved to synthesize complex organic molecules from CO2: the Calvin cycle, the reverse tricarboxylic acid cycle, and the reductive acetyl-CoA pathway. This review describes the enzymatic steps involved in the acetyl-CoA pathway, also called the Wood pathway, which is the ma...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239109114070
更新日期:1991-01-01 00:00:00
abstract::Proper and timely regulation of cellular processes is fundamental to the overall health and viability of organisms across all kingdoms of life. Thus, organisms have evolved multiple highly dynamic and complex biochemical signaling cascades in order to adapt and survive diverse challenges. One such method of conferring...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409238.2017.1394265
更新日期:2018-02-01 00:00:00
abstract::Low-copy nuclear genes in plants are a rich source of phylogenetic information. They hold a great potential to improve the robustness of phylogenetic reconstruction at all taxonomic levels, especially where universal markers such as cpDNA and nrDNA are unable to generate strong phylogenetic hypotheses. Low-copy nuclea...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409230290771474
更新日期:2002-01-01 00:00:00
abstract::Adaptive mutation is a generic term for processes that allow individual cells of nonproliferating cell populations to acquire advantageous mutations and thereby to overcome the strong selective pressure of proliferation-limiting environmental conditions. Prerequisites for an occurrence of adaptive mutation are that th...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409230701507773
更新日期:2007-07-01 00:00:00
abstract::One of the experimental platforms to study programs increasing genetic diversity in cells under stressful or nondividing conditions is adaptive mutagenesis, also called stationary phase mutagenesis or stress-induced mutagenesis. In some model systems, there is evidence that mutagenesis occurs in genes that are activel...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409230701597717
更新日期:2007-09-01 00:00:00
abstract::For more than a century amyloid was considered to be an interesting, unique, but inconsequential pathologic entity that rarely caused significant clinical problems. We now recognize that amyloid is not one entity. In vivo it is a uniform organization of a disease, or process, specific protein co-deposited with a set o...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239709082674
更新日期:1997-01-01 00:00:00
abstract::A protein is usually classified into one of the following five structural classes: alpha, beta, alpha + beta, alpha/beta, and zeta (irregular). The structural class of a protein is correlated with its amino acid composition. However, given the amino acid composition of a protein, how may one predict its structural cla...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239509083488
更新日期:1995-01-01 00:00:00
abstract::The major intrinsic protein (MIP) of the bovine lens fiber cell membrane was the first member of the MIP family of proteins to be sequenced and characterized. It is probably a homotetramer with transmembrane channel activity that plays a role in lens biogenesis or maintenance. The polypeptide chain of each subunit may...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239309086796
更新日期:1993-01-01 00:00:00
abstract::The discovery that SRA RNA can function as a nuclear receptor (NR) coactivator resulted in a fundamental change in the perception of how NRs and their coregulators may regulate hormone signaling pathways. The subsequent identification of molecules capable of binding SRA, including SHARP, p68, and more recently SLIRP, ...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409230802661719
更新日期:2009-01-01 00:00:00
abstract::The eukaryotic MCM2-7 complex is recruited onto origins of replication during the G1 phase of the cell cycle and acts as the main helicase at the replication fork during the S phase. Over the last few years a number of structural reports on MCM proteins using both electron microscopy and protein crystallography have b...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409230903186012
更新日期:2009-09-01 00:00:00
abstract::Rab GTPases are becoming increasingly implicated in neurodegenerative disorders, although their role in amyotrophic lateral sclerosis (ALS) has been somewhat overlooked. However, dysfunction of intracellular transport is gaining increasing attention as a pathogenic mechanism in ALS. Many previous studies have focused ...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409238.2018.1553926
更新日期:2018-12-01 00:00:00
abstract::Telomere DNA-binding proteins protect the ends of chromosomes in eukaryotes. A subset of these proteins are constructed with one or more OB folds and bind with G+T-rich single-stranded DNA found at the extreme termini. The resulting DNA-OB protein complex interacts with other telomere components to coordinate critical...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409238.2011.609295
更新日期:2011-10-01 00:00:00
abstract::Insulin-degrading enzyme (IDE) is a ubiquitous zinc peptidase of the inverzincin family, which has been initially discovered as the enzyme responsible for insulin catabolism; therefore, its involvement in the onset of diabetes has been largely investigated. However, further studies on IDE unraveled its ability to degr...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409238.2017.1337707
更新日期:2017-10-01 00:00:00
abstract::Studies with biomimetic models can yield considerable insight into mechanisms of enzymatic catalysis. The discussion above indicates how such information has been important in the cases of flavoproteins, hemoproteins, and, to a lesser extent, the copper protein dopamine beta-hydroxylase. Some of the moieties that we g...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239009090607
更新日期:1990-01-01 00:00:00
abstract::Renin, the first enzyme in the renin-angiotensin system, is critically important for the maintenance of blood pressure, and, therefore, as a target for antihypertensive therapy. The three-dimensional structure of renin would be an invaluable aid in understanding the functional properties of renin as well as in the des...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239109081721
更新日期:1991-01-01 00:00:00
abstract::Glycosaminoglycans (GAGs) play an intricate role in the extracellular matrix (ECM), not only as soluble components and polyelectrolytes, but also by specific interactions with growth factors and other transient components of the ECM. Modifications of GAG chains, such as isomerization, sulfation, and acetylation, gener...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239509083490
更新日期:1995-01-01 00:00:00
abstract::The nicotinic acetylcholine receptor (nAcChR) is a ligand-gated ion channel found in the postsynaptic membranes of electric organs, at the neuromuscular junction, and at nicotinic cholinergic synapses of the mammalian central and peripheral nervous system. The nAcChR from Torpedo electric organ and mammalian muscle is...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409238909082553
更新日期:1989-01-01 00:00:00
abstract::Every type of nucleic acid in cells may undergo some kind of post-replicative or post-transcriptional chemical modification. Recent evidence has highlighted their importance in biology and their chemical complexity. In the following pages, we will describe new discoveries of modifications, with a focus on tRNA and mRN...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章
doi:10.1080/10409238.2020.1818685
更新日期:2020-12-01 00:00:00
abstract::Some asparagine and glutamine residues in proteins undergo deamidation to aspartate and glutamate with rates that depend upon the sequence and higher-order structure of the protein. Functional groups within the protein can catalyze this reaction, acting as general acids, bases, or stabilizers of the transition state. ...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239109081719
更新日期:1991-01-01 00:00:00
abstract::Type 1 protein phosphatases (PP-1) comprise a group of widely distributed enzymes that specifically dephosphorylate serine and threonine residues of certain phosphoproteins. They all contain an isoform of the same catalytic subunit, which has an extremely conserved primary structure. One of the properties of PP-1 that...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239209082564
更新日期:1992-01-01 00:00:00
abstract::Activation of cell growth leads to the multiple phosphorylation of 40S ribosomal protein S6. The kinase responsible for controling this event is termed p70s6k/p85s6k. Both isoforms of the kinase are derived from a common gene activated by a complex set of phosphorylation events; each resides in a unique cellular compa...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239409083485
更新日期:1994-01-01 00:00:00
abstract::The maintenance of genomic stability relies on the coordinated action of a number of cellular processes, including activation of the DNA-damage checkpoint, DNA replication, DNA repair, and telomere homeostasis. Many proteins involved in these cellular processes use different types of functional modules to regulate and...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409238.2010.488216
更新日期:2010-08-01 00:00:00
abstract::Clathrin constitutes the coat of vesicles involved in three receptor-mediated intracellular transport pathways; the export of aggregated material from the trans-Golgi network for regulated secretion, the transfer of lysosomal hydrolases from the trans-Golgi network to lysosomes and receptor-mediated endocytosis at the...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239309078441
更新日期:1993-01-01 00:00:00
abstract::Aldehydes are highly reactive molecules that may have a variety of effects on biological systems. They can be generated from a virtually limitless number of endogenous and exogenous sources. Although some aldehyde-mediated effects such as vision are beneficial, many effects are deleterious, including cytotoxicity, mut...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.3109/10409239209082565
更新日期:1992-01-01 00:00:00
abstract::Fibronectin is a large vertebrate glycoprotein that is found in soluble and insoluble forms and involved in diverse processes. Protomeric fibronectin is a dimer of subunits, each of which comprises 29-31 modules - 12 type I, two type II and 15-17 type III. Plasma fibronectin is secreted by hepatocytes and circulates i...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409238.2016.1184224
更新日期:2015-07-01 00:00:00
abstract::The mevalonate-isoprenoid-cholesterol biosynthesis pathway plays a key role in human health and disease. The importance of this pathway is underscored by the discovery that two major isoprenoids, farnesyl and geranylgeranyl pyrophosphate, are required to modify an array of proteins through a process known as protein p...
journal_title:Critical reviews in biochemistry and molecular biology
pub_type: 杂志文章,评审
doi:10.1080/10409238.2018.1458070
更新日期:2018-06-01 00:00:00