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BICD2

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https://www.readbyqxmd.com/read/29038173/combinatorial-regulation-of-the-balance-between-dynein-microtubule-end-accumulation-and-initiation-of-directed-motility
#1
Rupam Jha, Johanna Roostalu, Nicholas I Cade, Martina Trokter, Thomas Surrey
Cytoplasmic dynein is involved in a multitude of essential cellular functions. Dynein's activity is controlled by the combinatorial action of several regulatory proteins. The molecular mechanism of this regulation is still poorly understood. Using purified proteins, we reconstitute the regulation of the human dynein complex by three prominent regulators on dynamic microtubules in the presence of end binding proteins (EBs). We find that dynein can be in biochemically and functionally distinct pools: either tracking dynamic microtubule plus-ends in an EB-dependent manner or moving processively towards minus ends in an adaptor protein-dependent manner...
October 16, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28883039/disease-associated-mutations-in-human-bicd2-hyperactivate-motility-of-dynein-dynactin
#2
Walter Huynh, Ronald D Vale
Bicaudal D2 (BICD2) joins dynein with dynactin into a ternary complex (termed DDB) capable of processive movement. Point mutations in the BICD2 gene have been identified in patients with a dominant form of spinal muscular atrophy, but how these mutations cause disease is unknown. To investigate this question, we have developed in vitro motility assays with purified DDB and BICD2's membrane vesicle partner, the GTPase Rab6a. Rab6a-GTP, either in solution or bound to artificial liposomes, released BICD2 from an autoinhibited state and promoted robust dynein-dynactin transport...
October 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#3
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28554554/expanding-the-phenotypic-spectrum-associated-with-mutations-of-dync1h1
#4
Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing, Gianina Ravenscroft
Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy. Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28542137/dt-13-synergistically-enhanced-vinorelbine-mediated-mitotic-arrest-through-inhibition-of-foxm1-bicd2-axis-in-non-small-cell-lung-cancer-cells
#5
Hongyang Li, Li Sun, Hang Li, Xiaodan Lv, Herve Semukunzi, Ruiming Li, Jun Yu, Shengtao Yuan, Sensen Lin
Non-small-cell lung cancer (NSCLC) is the most commonly diagnosed malignant disease with the leading cause of cancer-related death. Combination treatment remains the major strategy in the clinical therapy of NSCLC. Vinorelbine (NVB), a semi-synthetic vinca alkaloid, is used for advanced and metastatic NSCLC by destabilizing microtubule formation to induce mitotic arrest and cell death. However, the side effect of NVB heavily affected its effectiveness in clinical therapy. Hence, it is of great significance to develop new agents to synergize with NVB and decrease the adverse effect...
May 25, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28456383/adult-onset-spinal-muscular-atrophy-an-update
#6
REVIEW
R Juntas Morales, N Pageot, G Taieb, W Camu
Spinal muscular atrophy (SMA) refers to a group of disorders affecting lower motor neurons. The age of onset of these disorders is variable, ranging from the neonatal period to adulthood. Over the last few years, there has been enormous progress in the description of new genes and phenotypes that throw new light on the molecular pathways involved in motor neuron degeneration. Advances in our understanding of the pathophysiology of the most frequent forms, SMA linked to SMN1 gene mutations and Kennedy disease, has led to the development of therapeutic strategies currently being tested in clinical trials...
April 26, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28335620/a-novel-mutation-of-bicd2-gene-associated-with-juvenile-amyotrophic-lateral-sclerosis
#7
Xiao Huang, Dongsheng Fan
No abstract text is available yet for this article.
March 23, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28320825/structure-of-the-rzz-complex-and-molecular-basis-of-its-interaction-with-spindly
#8
Shyamal Mosalaganti, Jenny Keller, Anika Altenfeld, Michael Winzker, Pascaline Rombaut, Michael Saur, Arsen Petrovic, Annemarie Wehenkel, Sabine Wohlgemuth, Franziska Müller, Stefano Maffini, Tanja Bange, Franz Herzog, Herbert Waldmann, Stefan Raunser, Andrea Musacchio
Kinetochores are macromolecular assemblies that connect chromosomes to spindle microtubules (MTs) during mitosis. The metazoan-specific ≈800-kD ROD-Zwilch-ZW10 (RZZ) complex builds a fibrous corona that assembles on mitotic kinetochores before MT attachment to promote chromosome alignment and robust spindle assembly checkpoint signaling. In this study, we combine biochemical reconstitutions, single-particle electron cryomicroscopy, cross-linking mass spectrometry, and structural modeling to build a complete model of human RZZ...
April 3, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28215293/neuronal-roles-of-the-bicaudal-d-family-of-motor-adaptors
#9
REVIEW
M Budzinska, K B Wicher, M Terenzio
All cell types rely on active intracellular cargo transport to shuttle essential cellular components such as proteins, lipids, RNA, and even organelles from the center to the periphery and vice versa. Additionally, several signaling pathways take advantage of intracellular transport to propagate their signals by moving activated receptors and protein effectors to specific locations inside the cell. Neurons particularly, being a very polarized cell type, are highly dependent on molecular motors for the anterograde and retrograde delivery of essential cellular components and signaling molecules...
2017: Vitamins and Hormones
https://www.readbyqxmd.com/read/28196890/dync1h1-mutations-associated-with-neurological-diseases-compromise-processivity-of-dynein-dynactin-cargo-adaptor-complexes
#10
Ha Thi Hoang, Max A Schlager, Andrew P Carter, Simon L Bullock
Mutations in the human DYNC1H1 gene are associated with neurological diseases. DYNC1H1 encodes the heavy chain of cytoplasmic dynein-1, a 1.4-MDa motor complex that traffics organelles, vesicles, and macromolecules toward microtubule minus ends. The effects of the DYNC1H1 mutations on dynein motility, and consequently their links to neuropathology, are not understood. Here, we address this issue using a recombinant expression system for human dynein coupled to single-molecule resolution in vitro motility assays...
February 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27784775/expanding-the-phenotype-of-bicd2-mutations-toward-skeletal-muscle-involvement
#11
Andreas Unger, Gabriele Dekomien, Anne Güttsches, Thomas Dreps, Rudolf Kley, Martin Tegenthoff, Andreas Ferbert, Joachim Weis, Christoph Heyer, Wolfgang A Linke, Lilian Martinez-Carrera, Markus Storbeck, Brunhilde Wirth, Sabine Hoffjan, Matthias Vorgerd
OBJECTIVE: To expand the spectrum of bicaudal D, Drosophila, homologue 2 (BICD2) gene-related diseases, which so far includes autosomal dominant spinal muscular atrophy with lower extremity predominance 2 and hereditary spastic paraplegia due to mutations in the BICD2 gene. METHODS: We analyzed 2 independent German families with clinical, genetic, and muscle MRI studies. In both index patients, muscle histopathologic studies were performed. Transfection studies were carried out to analyze the functional consequences of the disease-causing mutations...
November 22, 2016: Neurology
https://www.readbyqxmd.com/read/27751653/recurrent-de-novo-bicd2-mutation-associated-with-arthrogryposis-multiplex-congenita-and-bilateral-perisylvian-polymicrogyria
#12
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
November 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27454819/the-mammalian-dynein-dynactin-complex-is-a-strong-opponent-to-kinesin-in-a-tug-of-war-competition
#13
Vladislav Belyy, Max A Schlager, Helen Foster, Armando E Reimer, Andrew P Carter, Ahmet Yildiz
Kinesin and dynein motors transport intracellular cargos bidirectionally by pulling them in opposite directions along microtubules, through a process frequently described as a 'tug of war'. While kinesin produces 6 pN of force, mammalian dynein was found to be a surprisingly weak motor (0.5-1.5 pN) in vitro, suggesting that many dyneins are required to counteract the pull of a single kinesin. Mammalian dynein's association with dynactin and Bicaudal-D2 (BICD2) activates its processive motility, but it was unknown how this affects dynein's force output...
September 2016: Nature Cell Biology
https://www.readbyqxmd.com/read/27365401/hook-adaptors-induce-unidirectional-processive-motility-by-enhancing-the-dynein-dynactin-interaction
#14
Mara A Olenick, Mariko Tokito, Malgorzata Boczkowska, Roberto Dominguez, Erika L F Holzbaur
Cytoplasmic dynein drives the majority of minus end-directed vesicular and organelle motility in the cell. However, it remains unclear how dynein is spatially and temporally regulated given the variety of cargo that must be properly localized to maintain cellular function. Recent work has suggested that adaptor proteins provide a mechanism for cargo-specific regulation of motors. Of particular interest, studies in fungal systems have implicated Hook proteins in the regulation of microtubule motors. Here we investigate the role of mammalian Hook proteins, Hook1 and Hook3, as potential motor adaptors...
August 26, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26998597/autosomal-dominant-spinal-muscular-atrophy-with-lower-extremity-predominance-a-recognizable-phenotype-of-bicd2-mutations
#15
Sabine Rudnik-Schöneborn, Florian Deden, Katja Eggermann, Thomas Eggermann, Dagmar Wieczorek, Bernd Sellhaus, Alfred Yamoah, Anand Goswami, Kristl G Claeys, Joachim Weis, Klaus Zerres
INTRODUCTION: Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED). METHODS: We analyzed the BICD2 gene in a selected group of 25 index patients with neurogenic muscle atrophy. RESULTS: We identified 2 new BICD2 missense mutations, c.2515G>A, p.Gly839Arg, in a family with autosomal dominant inheritance, and c.2202G>T, p.Lys734Asn, as a de novo mutation in an isolated patient with similar phenotype...
September 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/26968983/tyrosination-of-%C3%AE-tubulin-controls-the-initiation-of-processive-dynein-dynactin-motility
#16
Richard J McKenney, Walter Huynh, Ronald D Vale, Minhajuddin Sirajuddin
Post-translational modifications (PTMs) of α/β-tubulin are believed to regulate interactions with microtubule-binding proteins. A well-characterized PTM involves in the removal and re-ligation of the C-terminal tyrosine on α-tubulin, but the purpose of this tyrosination-detyrosination cycle remains elusive. Here, we examined the processive motility of mammalian dynein complexed with dynactin and BicD2 (DDB) on tyrosinated versus detyrosinated microtubules. Motility was decreased ~fourfold on detyrosinated microtubules, constituting the largest effect of a tubulin PTM on motor function observed to date...
June 1, 2016: EMBO Journal
https://www.readbyqxmd.com/read/26773477/how-dynein-and-dynactin-transport-cargos-a-structural-perspective
#17
REVIEW
Andrew P Carter, Aristides G Diamant, Linas Urnavicius
Recent structures of the dynein motor in three different conformations reveal how it uses ATP hydrolysis to move along microtubules. Attention is now turning to how cytoplasmic dynein-1 and dynactin act together to carry cargos. Cryo-electron microscopy (cryo-EM) has revealed the structure of dynactin and how it binds dynein in the presence of a cargo adaptor protein Bicaudal-D2 (BICD2). Future questions will include how dynein-1 transports so many different cargos and how the 2.4MDa dynein/dynactin transport machine is regulated...
April 2016: Current Opinion in Structural Biology
https://www.readbyqxmd.com/read/26700412/mechanism-of-the-dendritic-translation-and-localization-of-brain-derived-neurotrophic-factor
#18
Souichi Oe, Harukata Miki, Wataru Nishimura, Yasuko Noda
Brain-derived neurotrophic factor (BDNF) is a neurotrophic factor critical for synaptic plasticity, neuronal development and neurite extension. BDNF mRNA is transported to dendrites and axons, where it is expressed locally. We previously reported that dendritic targeting elements in the BDNF 3' UTR are necessary for dendritic transport and interact with cytoplasmic polyadenylation element binding protein 1. Here, we demonstrated that the short 3' UTR directs local translation of BDNF and that locally synthesized BDNF exists in a novel compartment that does not co-localize with markers of endosomes, endoplasmic reticulum, Golgi or the trans-Golgi network...
March 26, 2016: Cell Structure and Function
https://www.readbyqxmd.com/read/26594138/dominant-spinal-muscular-atrophy-is-caused-by-mutations-in-bicd2-an-important-golgin-protein
#19
REVIEW
Lilian A Martinez-Carrera, Brunhilde Wirth
Spinal muscular atrophies (SMAs) are characterized by degeneration of spinal motor neurons and muscle weakness. Autosomal recessive SMA is the most common form and is caused by homozygous deletions/mutations of the SMN1 gene. However, families with dominant inherited SMA have been reported, for most of them the causal gene remains unknown. Recently, we and others have identified heterozygous mutations in BICD2 as causative for autosomal dominant SMA, lower extremity-predominant, 2 (SMALED2) and hereditary spastic paraplegia (HSP)...
2015: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/26246603/lamins-position-the-nuclear-pores-and-centrosomes-by-modulating-dynein
#20
Yuxuan Guo, Yixian Zheng
Lamins, the type V nuclear intermediate filament proteins, are reported to function in both interphase and mitosis. For example, lamin deletion in various cell types can lead to an uneven distribution of the nuclear pore complexes (NPCs) in the interphase nuclear envelope, whereas deletion of B-type lamins results in spindle orientation defects in mitotic neural progenitor cells. How lamins regulate these functions is unknown. Using mouse cells deleted of different combinations or all lamins, we show that lamins are required to prevent the aggregation of NPCs in the nuclear envelope near centrosomes in late G2 and prophase...
October 1, 2015: Molecular Biology of the Cell
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