DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes
Authors
Keywords
-
Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 114, Issue 9, Pages E1597-E1606
Publisher
Proceedings of the National Academy of Sciences
Online
2017-02-15
DOI
10.1073/pnas.1620141114
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Review: Structure and mechanism of the dynein motor ATPase
- (2016) Helgo Schmidt et al. BIOPOLYMERS
- Tyrosination of α‐tubulin controls the initiation of processive dynein–dynactin motility
- (2016) Richard J McKenney et al. EMBO JOURNAL
- Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2
- (2016) C. Fiorillo et al. EUROPEAN JOURNAL OF NEUROLOGY
- Hook Adaptors Induce Unidirectional Processive Motility by Enhancing the Dynein-Dynactin Interaction
- (2016) Mara A. Olenick et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Assembly and activation of dynein–dynactin by the cargo adaptor protein Hook3
- (2016) Courtney M. Schroeder et al. JOURNAL OF CELL BIOLOGY
- The mammalian dynein–dynactin complex is a strong opponent to kinesin in a tug-of-war competition
- (2016) Vladislav Belyy et al. NATURE CELL BIOLOGY
- Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
- (2016) Gianina Ravenscroft et al. NEUROMUSCULAR DISORDERS
- Bicaudal D Family of Motor Adaptors: Linking Dynein Motility to Cargo Binding
- (2016) Casper C. Hoogenraad et al. TRENDS IN CELL BIOLOGY
- Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
- (2015) Thalia Antoniadi et al. BMC Medical Genetics
- Cdk1 Activates Pre-mitotic Nuclear Envelope Dynein Recruitment and Apical Nuclear Migration in Neural Stem Cells
- (2015) Alexandre D. Baffet et al. DEVELOPMENTAL CELL
- Writing and Reading the Tubulin Code
- (2015) Ian Yu et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
- (2015) Alleene V. Strickland et al. JOURNAL OF NEUROLOGY
- Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
- (2015) M. Scoto et al. NEUROLOGY
- The structure of the dynactin complex and its interaction with dynein
- (2015) L. Urnavicius et al. SCIENCE
- Control of cytoplasmic dynein force production and processivity by its C-terminal domain
- (2015) Matthew P. Nicholas et al. Nature Communications
- Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases
- (2015) Joanna Lipka et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy
- (2014) Caroline A. Garrett et al. BRAIN
- In vitroreconstitution of a highly processive recombinant human dynein complex
- (2014) Max A Schlager et al. EMBO JOURNAL
- Structure of human cytoplasmic dynein-2 primed for its power stroke
- (2014) Helgo Schmidt et al. NATURE
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- Activation of cytoplasmic dynein motility by dynactin-cargo adapter complexes
- (2014) R. J. McKenney et al. SCIENCE
- Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
- (2013) Emily C. Oates et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
- (2013) Kristien Peeters et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
- (2013) Kornelia Neveling et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dynein Recruitment to Nuclear Pores Activates Apical Nuclear Migration and Mitotic Entry in Brain Progenitor Cells
- (2013) Daniel Jun-Kit Hu et al. CELL
- Novel DyneinDYNC1H1Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development
- (2013) Chiara Fiorillo et al. HUMAN MUTATION
- Crystal clear insights into how the dynein motor moves
- (2013) A. P. Carter JOURNAL OF CELL SCIENCE
- Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
- (2013) Karine Poirier et al. NATURE GENETICS
- Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age
- (2013) Judith Eschbach et al. NEUROBIOLOGY OF DISEASE
- Cytoplasmic dynein heavy chain: the servant of many masters
- (2013) Giampietro Schiavo et al. TRENDS IN NEUROSCIENCES
- Cytoplasmic dynein
- (2012) Victoria J. Allan BIOCHEMICAL SOCIETY TRANSACTIONS
- A mouse neurodegenerative dynein heavy chain mutation alters dynein motility and localization inNeurospora crassa
- (2012) Senthilkumar Sivagurunathan et al. Cytoskeleton
- Identification of a Novel Site in the Tail of Dynein Heavy Chain Important for Dynein Functionin Vivo
- (2012) Rongde Qiu et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects
- (2012) Marjolein H Willemsen et al. JOURNAL OF MEDICAL GENETICS
- BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures
- (2012) Daniël Splinter et al. MOLECULAR BIOLOGY OF THE CELL
- The 2.8 Å crystal structure of the dynein motor domain
- (2012) Takahide Kon et al. NATURE
- A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
- (2012) Yoshinori Tsurusaki et al. NEUROGENETICS
- Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
- (2012) M. B. Harms et al. NEUROLOGY
- Reconstitution of the human cytoplasmic dynein complex
- (2012) M. Trokter et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Structural Basis for Microtubule Binding and Release by Dynein
- (2012) W. B. Redwine et al. SCIENCE
- Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
- (2011) Michael N. Weedon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Nucleotide-dependent behavior of single molecules of cytoplasmic dynein on microtubules in vitro
- (2010) Michi Miura et al. FEBS LETTERS
- Neurodegenerative Mutation in Cytoplasmic Dynein Alters Its Organization and Dynein-Dynactin and Dynein-Kinesin Interactions
- (2010) Wenhan Deng et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Protein homeostasis and aging in neurodegeneration
- (2010) Peter M. Douglas et al. JOURNAL OF CELL BIOLOGY
- A cytoplasmic dynein tail mutation impairs motor processivity
- (2010) Kassandra M. Ori-McKenney et al. NATURE CELL BIOLOGY
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32
- (2010) M. B. Harms et al. NEUROLOGY
- Bicaudal D2, Dynein, and Kinesin-1 Associate with Nuclear Pore Complexes and Regulate Centrosome and Nuclear Positioning during Mitotic Entry
- (2010) Daniël Splinter et al. PLOS BIOLOGY
- Dynein Light Intermediate Chain: An Essential Subunit That Contributes to Spindle Checkpoint Inactivation
- (2008) Sarah Mische et al. MOLECULAR BIOLOGY OF THE CELL
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started