The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation

Bridging the Gap: The Importance of TUBA1A α-Tubulin in Forming Midline Commissures

(2022) Georgia Buscaglia et al.   Frontiers in Cell and Developmental Biology

Tubulinopathy mutations in TUBA1A that disrupt neuronal morphogenesis and migration override XMAP215/Stu2 regulation of microtubule dynamics

(2022) Katelyn J Hoff et al.   eLife

H-ABC– and dystonia-causing TUBB4A mutations show distinct pathogenic effects

(2022) Victor Krajka et al.   Science Advances

Tubulin mutations in human neurodevelopmental disorders

(2022) Camille Maillard et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

GTP-dependent formation of straight tubulin oligomers leads to microtubule nucleation

(2021) Rie Ayukawa et al.   JOURNAL OF CELL BIOLOGY

Influence of Disease-Causing Mutations on Protein Structural Networks

(2021) Vasam Manjveekar Prabantu et al.   Frontiers in Molecular Biosciences

Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations

(2021) Kristen Park et al.   Frontiers in Cell and Developmental Biology

Structural model for differential cap maturation at growing microtubule ends

(2020) Juan Estévez-Gallego et al.   eLife

The speed of GTP hydrolysis determines GTP cap size and controls microtubule stability

(2020) Johanna Roostalu et al.   eLife

‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

(2020) Silvia Kalantari et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

(2020) Laure Asselin et al.   Nature Communications

DYNC1H1 ‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants

(2020) Sonia Amabile et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Selection and Characterization of Artificial Proteins Targeting the Tubulin α Subunit

(2019) Valérie Campanacci et al.   STRUCTURE

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

(2019) Moritz Hebebrand et al.   Orphanet Journal of Rare Diseases

Coupling of ATPase activity, microtubule binding, and mechanics in the dynein motor domain

(2019) Stefan Niekamp et al.   EMBO JOURNAL

Molecular basis for dyneinopathies reveals insight into dynein regulation and dysfunction

(2019) Matthew G Marzo et al.   eLife

Differential requirements of tubulin genes in mammalian forebrain development

(2019) Elizabeth Bittermann et al.   PLoS Genetics

Microtubule-Associated Proteins: Structuring the Cytoskeleton

(2019) Satish Bodakuntla et al.   TRENDS IN CELL BIOLOGY

Microtubules grow by the addition of bent guanosine triphosphate tubulin to the tips of curved protofilaments

(2018) J. Richard McIntosh et al.   JOURNAL OF CELL BIOLOGY

The cytoplasmic dynein transport machinery and its many cargoes

(2018) Samara L. Reck-Peterson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Microtubules and Microtubule-Associated Proteins

(2018) Holly V. Goodson et al.   Cold Spring Harbor Perspectives in Biology

Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration

(2018) Alban Latremoliere et al.   Cell Reports

TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity

(2018) Jayne Aiken et al.   HUMAN MOLECULAR GENETICS

Modulation of allosteric coupling by mutations: from protein dynamics and packing to altered native ensembles and function

(2018) Athi N Naganathan   CURRENT OPINION IN STRUCTURAL BIOLOGY

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

(2017) Loïc Broix et al.   HUMAN MOLECULAR GENETICS

Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration

(2017) Richard Belvindrah et al.   JOURNAL OF CELL BIOLOGY

Dynein is regulated by the stability of its microtubule track

(2017) Cassi Estrem et al.   JOURNAL OF CELL BIOLOGY

TOG–tubulin binding specificity promotes microtubule dynamics and mitotic spindle formation

(2017) Amy E. Byrnes et al.   JOURNAL OF CELL BIOLOGY

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations

(2017) Annie Laquerriere et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Tubulin isoform composition tunes microtubule dynamics

(2017) Annapurna Vemu et al.   MOLECULAR BIOLOGY OF THE CELL

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

(2017) Sarah J. Beecroft et al.   NEUROMUSCULAR DISORDERS

DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes

(2017) Ha Thi Hoang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

(2017) Meghna Kannan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neural Progenitor Cell Polarity and Cortical Development

(2017) Yoko Arai et al.   Frontiers in Cellular Neuroscience

Kinesin-4 KIF21B is a potent microtubule pausing factor

(2017) Wilhelmina E van Riel et al.   eLife

Distinct Features of Doublecortin as a Marker of Neuronal Migration and Its Implications in Cancer Cell Mobility

(2017) Abiola A. Ayanlaja et al.   Frontiers in Molecular Neuroscience

Dync1h1Mutation Causes Proprioceptive Sensory Neuron Loss and Impaired Retrograde Axonal Transport of Dorsal Root Ganglion Neurons

(2016) Jing Zhao et al.   CNS Neuroscience & Therapeutics

Emerging roles for motor proteins in progenitor cell behavior and neuronal migration during brain development

(2016) Tiago J. Dantas et al.   Cytoskeleton

Novel α-tubulin mutation disrupts neural development and tubulin proteostasis

(2016) M. Gartz Hanson et al.   DEVELOPMENTAL BIOLOGY

Mutations in Human Tubulin Proximal to the Kinesin-Binding Site Alter Dynamic Instability at Microtubule Plus- and Minus-Ends

(2016) Shih-Chieh Ti et al.   DEVELOPMENTAL CELL

EB1 interacts with outwardly curved and straight regions of the microtubule lattice

(2016) Audrey Guesdon et al.   NATURE CELL BIOLOGY

Activity-Dependent Regulation of Distinct Transport and Cytoskeletal Remodeling Functions of the Dendritic Kinesin KIF21B

(2016) Amy E. Ghiretti et al.   NEURON

The Kinesin KIF21B Regulates Microtubule Dynamics and Is Essential for Neuronal Morphology, Synapse Function, and Learning and Memory

(2016) Mary Muhia et al.   Cell Reports

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation ofKIF2A

(2016) Guoling Tian et al.   Molecular Genetics & Genomic Medicine

The Role of Conformational Dynamics and Allostery in the Disease Development of Human Ferritin

(2015) Avishek Kumar et al.   BIOPHYSICAL JOURNAL

Mechanistic Origin of Microtubule Dynamic Instability and Its Modulation by EB Proteins

(2015) Rui Zhang et al.   CELL

X-ray and Cryo-EM structures reveal mutual conformational changes of Kinesin and GTP-state microtubules upon binding

(2015) M. Morikawa et al.   EMBO JOURNAL

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

(2015) Renske Oegema et al.   HUMAN MOLECULAR GENETICS

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism

(2015) Sonia Levi et al.   NEUROBIOLOGY OF DISEASE

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

(2015) Mara Cavallin et al.   NEUROGENETICS

Kinesin-5 is a microtubule polymerase

(2015) Yalei Chen et al.   Nature Communications

A mutation uncouples the tubulin conformational and GTPase cycles, revealing allosteric control of microtubule dynamics

(2015) Elisabeth A Geyer et al.   eLife

The axonal cytoskeleton: from organization to function

(2015) Josta T. Kevenaar et al.   Frontiers in Molecular Neuroscience

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

(2014) Nadia Bahi-Buisson et al.   BRAIN

High-Resolution Microtubule Structures Reveal the Structural Transitions in αβ-Tubulin upon GTP Hydrolysis

(2014) Gregory M. Alushin et al.   CELL

Involvement of the kinesin family membersKIF4AandKIF5Cin intellectual disability and synaptic function

(2014) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Regulation of microtubule motors by tubulin isotypes and post-translational modifications

(2014) Minhajuddin Sirajuddin et al.   NATURE CELL BIOLOGY

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

A tethered delivery mechanism explains the catalytic action of a microtubule polymerase

(2014) Pelin Ayaz et al.   eLife

New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum

(2013) Nadia Bahi-Buisson et al.   BRAIN

Novel DyneinDYNC1H1Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

(2013) Chiara Fiorillo et al.   HUMAN MUTATION

Synergy between XMAP215 and EB1 increases microtubule growth rates to physiological levels

(2013) Marija Zanic et al.   NATURE CELL BIOLOGY

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

Axonal Pruning Is Actively Regulated by the Microtubule-Destabilizing Protein Kinesin Superfamily Protein 2A

(2013) Maya Maor-Nof et al.   Cell Reports

Cortical Dynein Controls Microtubule Dynamics to Generate Pulling Forces that Position Microtubule Asters

(2012) Liedewij Laan et al.   CELL

EBs Recognize a Nucleotide-Dependent Structural Cap at Growing Microtubule Ends

(2012) Sebastian P. Maurer et al.   CELL

Doublecortin Recognizes the 13-Protofilament Microtubule Cooperatively and Tracks Microtubule Ends

(2012) Susanne Bechstedt et al.   DEVELOPMENTAL CELL

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

(2012) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Fission yeast Alp14 is a dose-dependent plus end–tracking microtubule polymerase

(2012) Jawdat Al-Bassam et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

(2012) M. B. Harms et al.   NEUROLOGY

A designed ankyrin repeat protein selected to bind to tubulin caps the microtubule plus end

(2012) Ludovic Pecqueur et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A TOG:  -tubulin Complex Structure Reveals Conformation-Based Mechanisms for a Microtubule Polymerase

(2012) P. Ayaz et al.   SCIENCE

The kinesin-13 MCAK has an unconventional ATPase cycle adapted for microtubule depolymerization

(2011) Claire T Friel et al.   EMBO JOURNAL

Preferential binding of a kinesin-1 motor to GTP-tubulin–rich microtubules underlies polarized vesicle transport

(2011) Takao Nakata et al.   JOURNAL OF CELL BIOLOGY

The Determinants That Govern Microtubule Assembly from the Atomic Structure of GTP-Tubulin

(2011) Agata Nawrotek et al.   JOURNAL OF MOLECULAR BIOLOGY

Neuronal migration defects in the Loa dynein mutant mouse

(2011) Kassandra M Ori-McKenney et al.   Neural Development

Cryo-electron tomography reveals conserved features of doublet microtubules in flagella

(2011) D. Nicastro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

XMAP215 polymerase activity is built by combining multiple tubulin-binding TOG domains and a basic lattice-binding region

(2011) P. O. Widlund et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

(2010) Max A. Tischfield et al.   CELL

Mixed Microtubules Steer Dynein-Driven Cargo Transport into Dendrites

(2010) Lukas C. Kapitein et al.   CURRENT BIOLOGY

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

(2010) Karine Poirier et al.   HUMAN MOLECULAR GENETICS

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

(2010) Guoling Tian et al.   HUMAN MOLECULAR GENETICS

Kinesin 3 and cytoplasmic dynein mediate interkinetic nuclear migration in neural stem cells

(2010) Jin-Wu Tsai et al.   NATURE NEUROSCIENCE

Molecular Motors in Neurons: Transport Mechanisms and Roles in Brain Function, Development, and Disease

(2010) Nobutaka Hirokawa et al.   NEURON

LIS1-Related Isolated Lissencephaly

(2009) Yoann Saillour et al.   ARCHIVES OF NEUROLOGY

Kinesin-8 Motors Act Cooperatively to Mediate Length-Dependent Microtubule Depolymerization

(2009) Vladimir Varga et al.   CELL

Molecular layers underlying cytoskeletal remodelling during cortical development

(2009) Julian Ik-Tsen Heng et al.   TRENDS IN NEUROSCIENCES

XMAP215 Is a Processive Microtubule Polymerase

(2008) Gary J. Brouhard et al.   CELL

A Pachygyria-causing α-Tubulin Mutation Results in Inefficient Cycling with CCT and a Deficient Interaction with TBCB

(2008) Guoling Tian et al.   MOLECULAR BIOLOGY OF THE CELL

EB1 regulates microtubule dynamics and tubulin sheet closure in vitro

(2008) Benjamin Vitre et al.   NATURE CELL BIOLOGY

Spatial control of branching within dendritic arbors by dynein-dependent transport of Rab5-endosomes

(2008) Daisuke Satoh et al.   NATURE CELL BIOLOGY

Dynein is required for polarized dendritic transport and uniform microtubule orientation in axons

(2008) Yi Zheng et al.   NATURE CELL BIOLOGY

The lattice as allosteric effector: Structural studies of   - and  -tubulin clarify the role of GTP in microtubule assembly

(2008) L. M. Rice et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA