Molecular Genetics of Microcephaly Primary Hereditary: An Overview

Centriole and PCM cooperatively recruit CEP192 to spindle poles to promote bipolar spindle assembly

(2021) Takumi Chinen et al.   JOURNAL OF CELL BIOLOGY

CENPE Inhibition Leads to Mitotic Catastrophe and DNA Damage in Medulloblastoma Cells

(2021) Giorgia Iegiani et al.   Cancers

Sas-6, Ana2 and Sas-4 self-organise into macromolecular structures that can be used to probe centriole/centrosome assembly

(2020) Lisa Gartenmann et al.   JOURNAL OF CELL SCIENCE

Transcriptional Regulators and Human-Specific/Primate-Specific Genes in Neocortical Neurogenesis

(2020) Samir Vaid et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

(2020) Francesca Cristofoli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

(2020) David A. Parry et al.   GENETICS IN MEDICINE

COPB2 gene silencing inhibits colorectal cancer cell proliferation and induces apoptosis via the JNK/c-Jun signaling pathway

(2020) Yan Wang et al.   PLoS One

Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly

(2020) Alessandro Cicconi et al.   Nature Communications

Insights into genetics, human biology and disease gleaned from family based genomic studies

(2019) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Molecular architecture of a cylindrical self-assembly at human centrosomes

(2019) Tae-Sung Kim et al.   Nature Communications

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish

(2019) Yonatan Perez et al.   BRAIN

Mechanisms of kinesin-7 CENP-E in kinetochore-microtubule capture and chromosome alignment during cell division

(2019) Kai-Wei Yu et al.   BIOLOGY OF THE CELL

Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly

(2019) Yanghui Zhang et al.   CLINICA CHIMICA ACTA

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

(2019) Diana Le Duc et al.   BRAIN

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways

(2019) Sarah Duerinckx et al.   HUMAN MUTATION

The C7orf43/TRAPPC14 component links the TRAPPII complex to Rabin8 for preciliary vesicle tethering at the mother centriole during ciliogenesis

(2019) Adrian Cuenca et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

(2019) Nichole Link et al.   DEVELOPMENTAL CELL

The Genetics of Primary Microcephaly

(2018) Divya Jayaraman et al.   Annual Review of Genomics and Human Genetics

The kinetochore proteins CENP-E and CENP-F directly and specifically interact with distinct BUB mitotic checkpoint Ser/Thr kinases

(2018) Giuseppe Ciossani et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The genetics of congenitally small brains

(2018) Sarah Duerinckx et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Dynein–Dynactin–NuMA clusters generate cortical spindle-pulling forces as a multi-arm ensemble

(2018) Masako Okumura et al.   eLife

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

(2018) Daniela A. Braun et al.   JOURNAL OF CLINICAL INVESTIGATION

The lysolipid transporter Mfsd2a regulates lipogenesis in the developing brain

(2018) Jia Pei Chan et al.   PLOS BIOLOGY

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

(2017) Andrew DiStasio et al.   HUMAN MOLECULAR GENETICS

Mitotic spindle assembly in animal cells: a fine balancing act

(2017) Suzanna L. Prosser et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Diagnostic Approach to Primary Microcephaly

(2017) Maja von der Hagen   NEUROPEDIATRICS

Autosomal Recessive Primary Microcephaly (MCPH): An Update

(2017) Deborah Morris-Rosendahl et al.   NEUROPEDIATRICS

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly

(2017) Paraskevi Sgourdou et al.   Scientific Reports

Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly

(2017) Federico Tommaso Bianchi et al.   Cell Reports

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

The DNA damage response molecule MCPH1 in brain development and beyond

(2016) Xiaoqian Liu et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

(2016) Hongda Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CPAP promotes timely cilium disassembly to maintain neural progenitor pool

(2016) Elke Gabriel et al.   EMBO JOURNAL

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

(2016) Carol-Anne Martin et al.   GENES & DEVELOPMENT

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

(2016) Divya Jayaraman et al.   NEURON

The Human Centriolar Protein CEP135 Contains a Two-Stranded Coiled-Coil Domain Critical for Microtubule Binding

(2016) Sebastian Kraatz et al.   STRUCTURE

The Centrosome, a Multitalented Renaissance Organelle

(2016) Anastassiia Vertii et al.   Cold Spring Harbor Perspectives in Biology

Mitosis

(2016) J. Richard McIntosh   Cold Spring Harbor Perspectives in Biology

Cross-regulation between Aurora B and Citron kinase controls midbody architecture in cytokinesis

(2016) Callum McKenzie et al.   Open Biology

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

(2016) Rotem Kadir et al.   PLoS Genetics

Polo-like kinase phosphorylation determinesCaenorhabditiseleganscentrosome size and density by biasing SPD-5 toward an assembly-competent conformation

(2016) Oliver Wueseke et al.   Biology Open

Lamins: Nuclear Intermediate Filament Proteins with Fundamental Functions in Nuclear Mechanics and Genome Regulation

(2015) Yosef Gruenbaum et al.   Annual Review of Biochemistry

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

(2015) Sandra Szczepanski et al.   HUMAN GENETICS

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

(2015) Vafa Alakbarzade et al.   NATURE GENETICS

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

(2015) Alicia Guemez-Gamboa et al.   NATURE GENETICS

MCPH1: a window into brain development and evolution

(2015) Jeremy N. Pulvers   Frontiers in Cellular Neuroscience

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

(2015) Andrew Kodani et al.   eLife

The Caenorhabditis elegans protein SAS-5 forms large oligomeric assemblies critical for centriole formation

(2015) Kacper B Rogala et al.   eLife

Congenital microcephaly

(2014) Diana Alcantara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

Lack of centrioles and primary cilia inSTIL−/−mouse embryos

(2014) Ahuvit David et al.   CELL CYCLE

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature

(2014) Maja von der Hagen et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Neurogenesis during development of the vertebrate central nervous system

(2014) J. T. Paridaen et al.   EMBO REPORTS

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

(2014) Ghayda M. Mirzaa et al.   HUMAN GENETICS

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

(2014) Muzammil A. Khan et al.   HUMAN MOLECULAR GENETICS

Mechanisms of HsSAS-6 assembly promoting centriole formation in human cells

(2014) Debora Keller et al.   JOURNAL OF CELL BIOLOGY

KIF14 Binds Tightly to Microtubules and Adopts a Rigor-Like Conformation

(2014) Kritica Arora et al.   JOURNAL OF MOLECULAR BIOLOGY

Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid

(2014) Long N. Nguyen et al.   NATURE

Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology

(2014) Lori A. Orosco et al.   Nature Communications

Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size

(2014) Jian-Fu Chen et al.   Nature Communications

Microcephaly-Associated Protein WDR62 Regulates Neurogenesis through JNK1 in the Developing Neocortex

(2014) Dan Xu et al.   Cell Reports

Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

(2014) Marine Barbelanne et al.   Biomed Research International

DNA damage response in microcephaly development of MCPH1 mouse model

(2013) Zhong-Wei Zhou et al.   DNA REPAIR

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly

(2013) Yu-Chih Lin et al.   EMBO JOURNAL

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

(2013) Salma Awad et al.   HUMAN MOLECULAR GENETICS

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

(2013) Muhammad S. Hussain et al.   HUMAN MOLECULAR GENETICS

Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication

(2013) K. F. Sonnen et al.   JOURNAL OF CELL SCIENCE

Abnormal centrosomal structure and duplication in Cep135-deficient vertebrate cells

(2013) Burcu Inanç et al.   MOLECULAR BIOLOGY OF THE CELL

The microcephaly protein Asp regulates neuroepithelium morphogenesis by controlling the spatial distribution of myosin II

(2013) Maria A. Rujano et al.   NATURE CELL BIOLOGY

Kinetochore kinesin CENP-E is a processive bi-directional tracker of dynamic microtubule tips

(2013) Nikita Gudimchuk et al.   NATURE CELL BIOLOGY

Pax6 Exerts Regional Control of Cortical Progenitor Proliferation via Direct Repression of Cdk6 and Hypophosphorylation of pRb

(2013) Da Mi et al.   NEURON

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

(2013) Lina Issa et al.   Orphanet Journal of Rare Diseases

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination

(2013) Kohei Fujikura et al.   PLoS One

Citron kinase controls a molecular network required for midbody formation in cytokinesis

(2013) Z. I. Bassi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hierarchical recruitment of Plk4 and regulation of centriole biogenesis by two centrosomal scaffolds, Cep192 and Cep152

(2013) T.-S. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression

(2013) C. Novorol et al.   Open Biology

Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly

(2013) Matthew A Cottee et al.   eLife

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

(2012) Muhammad Sajid Hussain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation

(2012) Yawei J. Yang et al.   CELL

Coordination of Kinase and Phosphatase Activities by Lem4 Enables Nuclear Envelope Reassembly during Mitosis

(2012) Claudio Asencio et al.   CELL

BLD10/CEP135 Is a Microtubule-Associated Protein that Controls the Formation of the Flagellum Central Microtubule Pair

(2012) Zita Carvalho-Santos et al.   DEVELOPMENTAL CELL

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

(2012) A. Genin et al.   HUMAN MOLECULAR GENETICS

Drosophila Cep135/Bld10 maintains proper centriole structure but is dispensable for cartwheel formation

(2012) H. Roque et al.   JOURNAL OF CELL SCIENCE

WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression

(2012) M. A. Bogoyevitch et al.   JOURNAL OF CELL SCIENCE

Cell-cycle-regulated expression of STIL controls centriole number in human cells

(2012) C. Arquint et al.   JOURNAL OF CELL SCIENCE

Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1

(2012) N. Singh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome

(2012) Rebecca E. McIntyre et al.   PLoS Genetics

The microcephaly gene aspm is involved in brain development in zebrafish

(2011) Hyun-Taek Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The relative ratio of condensin I to II determines chromosome shapes

(2011) K. Shintomi et al.   GENES & DEVELOPMENT

The initial phase of chromosome condensation requires Cdk1-mediated phosphorylation of the CAP-D3 subunit of condensin II

(2011) S. Abe et al.   GENES & DEVELOPMENT

Molecular Basis for the Association of Microcephalin (MCPH1) Protein with the Cell Division Cycle Protein 27 (Cdc27) Subunit of the Anaphase-promoting Complex

(2011) Namit Singh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II

(2011) Daisuke Yamashita et al.   JOURNAL OF CELL BIOLOGY

Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL

(2011) D. Kitagawa et al.   JOURNAL OF CELL SCIENCE

MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1–Cdc25 pathway

(2011) Ralph Gruber et al.   NATURE CELL BIOLOGY

A primary microcephaly protein complex forms a ring around parental centrioles

(2011) Joo-Hee Sir et al.   NATURE GENETICS

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

(2010) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis

(2010) Julie Higgins et al.   BMC CELL BIOLOGY

CDK5RAP2 is required for spindle checkpoint function

(2010) Xiaoying Zhang et al.   CELL CYCLE

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

(2010) S. B. Lizarraga et al.   DEVELOPMENT

CDK5RAP2 Regulates Centriole Engagement and Cohesion in Mice

(2010) Jose A. Barrera et al.   DEVELOPMENTAL CELL

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Asterless is a scaffold for the onset of centriole assembly

(2010) Nikola S. Dzhindzhev et al.   NATURE

The Nup107-160 complex and γ-TuRC regulate microtubule polymerization at kinetochores

(2010) Ram Kumar Mishra et al.   NATURE CELL BIOLOGY

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

WDR62 is associated with the spindle pole and is mutated in human microcephaly

(2010) Adeline K Nicholas et al.   NATURE GENETICS

Cdk5rap2 Interacts with Pericentrin to Maintain the Neural Progenitor Pool in the Developing Neocortex

(2010) Joshua J. Buchman et al.   NEURON

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

(2010) J. N. Pulvers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Compound heterozygous ASPM mutations in Pakistani MCPH families

(2009) Farooq Muhammad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Control of Centriole Length by CPAP and CP110

(2009) Thorsten I. Schmidt et al.   CURRENT BIOLOGY

Identification and Characterization of a Novel Nuclear Protein Complex Involved in Nuclear Hormone Receptor-mediated Gene Regulation

(2009) Shivani Garapaty et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Gα

(2009) Monique van der Voet et al.   NATURE CELL BIOLOGY

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

(2009) S. Passemard et al.   NEUROLOGY

Plk1-Dependent Recruitment of γ-Tubulin Complexes to Mitotic Centrosomes Involves Multiple PCM Components

(2009) Laurence Haren et al.   PLoS One

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

(2008) Julie Desir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Depletion of β-COP reveals a role for COP-I in compartmentalization of secretory compartments and in biosynthetic transport of caveolin-1

(2008) Melanie L. Styers et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Condensin-Dependent rDNA Decatenation Introduces a Temporal Pattern to Chromosome Segregation

(2008) Claudio D'Ambrosio et al.   CURRENT BIOLOGY

The cell biology of neural stem and progenitor cells and its significance for their proliferation versus differentiation during mammalian brain development

(2008) Lilla M Farkas et al.   CURRENT OPINION IN CELL BIOLOGY

A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization

(2008) Kyeongmi Kim et al.   EXPERIMENTAL CELL RESEARCH

Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity

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

CDK5RAP2 Is a Pericentriolar Protein That Functions in Centrosomal Attachment of the γ-Tubulin Ring Complex

(2007) Ka-Wing Fong et al.   MOLECULAR BIOLOGY OF THE CELL