Multifaceted Microcephaly-Related Gene MCPH1

Neuronal fate acquisition and specification: time for a change

(2021) Jérôme Bonnefont et al.   CURRENT OPINION IN NEUROBIOLOGY

The N-terminal BRCT domain determines MCPH1 function in brain development and fertility

(2021) Xiaoqian Liu et al.   Cell Death & Disease

Molecular Genetics of Microcephaly Primary Hereditary: An Overview

(2021) Nikistratos Siskos et al.   Brain Sciences

MCPH1, beyond its role deciding the brain size

(2021) Martina Kristofova et al.   Aging-US

MCPH1 inhibits Condensin II during interphase by regulating its SMC2-Kleisin interface

(2021) Martin Houlard et al.   eLife

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

(2021) Syeda Seema Waseem et al.   Genes

Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly

(2020) Nathalie Journiac et al.   Cell Reports

Analysis of the “centrosome-ome” identifies MCPH1 deletion as a cause of centrosome amplification in human cancer

(2020) Ryan A. Denu et al.   Scientific Reports

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

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

Dissecting the Genetic and Etiological Causes of Primary Microcephaly

(2020) Francesca Jean et al.   Frontiers in Neurology

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

(2020) Muhammad Farooq et al.   Nature Communications

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

(2020) Alessandro Cicconi et al.   Nature Communications

Cilia, ciliopathies and hedgehog-related forebrain developmental disorders

(2020) Abraham Andreu-Cervera et al.   NEUROBIOLOGY OF DISEASE

Transgenic rhesus monkeys carrying the human MCPH1 gene copies show human-like neoteny of brain development

(2019) Lei Shi et al.   National Science Review

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

(2019) Yonatan Perez et al.   BRAIN

Cilia in hereditary cerebral anomalies

(2019) Sophie Thomas et al.   BIOLOGY OF THE CELL

Linking Cell Polarity to Cortical Development and Malformations

(2019) Janne Hakanen et al.   Frontiers in Cellular Neuroscience

The Centrosome and the Primary Cilium: The Yin and Yang of a Hybrid Organelle

(2019) Joukov et al.   Cells

Differences in Mitotic Spindle Architecture in Mammalian Neural Stem Cells Influence Mitotic Accuracy during Brain Development

(2019) Diana Vargas-Hurtado et al.   CURRENT BIOLOGY

The Genetics of Primary Microcephaly

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

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

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

Cell polarity: having and making sense of direction—on the evolutionary significance of the primary cilium/centrosome organ in Metazoa

(2018) Michel Bornens   Open Biology

Phosphorylation of MCPH1 isoforms during mitosis followed by isoform-specific degradation by APC/C-CDH1

(2018) Stephanie K. Meyer et al.   FASEB JOURNAL

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

(2017) Andrew DiStasio et al.   HUMAN MOLECULAR GENETICS

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

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

(2016) Brian N. Harding et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Relief of hypoxia by angiogenesis promotes neural stem cell differentiation by targeting glycolysis

(2016) Christian Lange et al.   EMBO JOURNAL

Regulation of mitotic spindle orientation: an integrated view

(2016) Florencia di Pietro et al.   EMBO REPORTS

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

Control of adult neurogenesis by programmed cell death in the mammalian brain

(2016) Jae Ryun Ryu et al.   Molecular Brain

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility

(2016) Tuomo Mantere et al.   PLoS Genetics

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

(2016) Rotem Kadir et al.   PLoS Genetics

Radial glial cells organize the central nervous system via microtubule dependant processes

(2015) Jessica Nulty et al.   BRAIN RESEARCH

Mitochondrial Phosphoenolpyruvate Carboxykinase Regulates Metabolic Adaptation and Enables Glucose-Independent Tumor Growth

(2015) Emma E. Vincent et al.   MOLECULAR CELL

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

Cell Division Modes and Cleavage Planes of Neural Progenitors during Mammalian Cortical Development

(2015) Fumio Matsuzaki et al.   Cold Spring Harbor Perspectives in Biology

Overexpression of MCPH1 inhibits uncontrolled cell growth by promoting cell apoptosis and arresting the cell cycle in S and G2/M phase in lung cancer cells

(2015) LIMIN ZHOU et al.   Oncology Letters

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

(2015) Andrew Kodani 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

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

The overexpression of MCPH1 inhibits cell growth through regulating cell cycle-related proteins and activating cytochrome c-caspase 3 signaling in cervical cancer

(2014) Li Mai et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model

(2014) Y Liang et al.   ONCOGENE

The Drosophila MCPH1-B isoform is a substrate of the APCCdh1 E3 ubiquitin ligase complex

(2014) S. G. Hainline et al.   Biology Open

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

The FHA and BRCT domains recognize ADP-ribosylation during DNA damage response

(2013) M. Li et al.   GENES & DEVELOPMENT

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

Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis Media

(2013) Jing Chen et al.   PLoS One

Cell Cycle Regulation During Neurogenesis in the Embryonic and Adult Brain

(2013) Arquimedes Cheffer et al.   Stem Cell Reviews and Reports

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

Interkinetic nuclear migration: beyond a hallmark of neurogenesis

(2012) Yoichi Kosodo   CELLULAR AND MOLECULAR LIFE SCIENCES

MCPH1/BRIT1 represses transcription of the human telomerase reverse transcriptase gene

(2012) Lei Shi et al.   GENE

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

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

Contrasting roles of condensin I and condensin II in mitotic chromosome formation

(2012) L. C. Green et al.   JOURNAL OF CELL SCIENCE

A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells

(2012) Ioannis Gavvovidis et al.   PLoS One

Charting the Landscape of Tandem BRCT Domain-Mediated Protein Interactions

(2012) N. T. Woods et al.   Science Signaling

MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest 

(2011) Ioannis Gavvovidis et al.   CELL CYCLE

The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation

(2011) Chieh-Ju C Tang et al.   EMBO JOURNAL

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

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

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

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

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

(2010) Muhammad Farooq et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

(2010) H. Darvish et al.   JOURNAL OF MEDICAL GENETICS

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

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

MCPH1/BRIT1 limits ionizing radiation-induced centrosome amplification

(2010) J A L Brown et al.   ONCOGENE

Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function

(2010) Marc Trimborn et al.   PLoS One

Multiple Roles of BRIT1/MCPH1 in DNA Damage Response, DNA Repair, and Cancer Suppression

(2010) Shiaw-Yih Lin et al.   YONSEI MEDICAL JOURNAL

BRIT1/MCPH1 Is Essential for Mitotic and Meiotic Recombination DNA Repair and Maintaining Genomic Stability in Mice

(2010) Yulong Liang et al.   PLoS Genetics

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

(2009) Arun Kumar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microcephalin Regulates BRCA2 and Rad51-Associated DNA Double-Strand Break Repair

(2009) Xianglin Wu et al.   CANCER RESEARCH

Cdk4/CyclinD1 Overexpression in Neural Stem Cells Shortens G1, Delays Neurogenesis, and Promotes the Generation and Expansion of Basal Progenitors

(2009) Christian Lange et al.   Cell Stem Cell

Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

(2009) Alexandra Tibelius et al.   JOURNAL OF CELL BIOLOGY

BRIT1/MCPH1 links chromatin remodelling to DNA damage response

(2009) Guang Peng et al.   NATURE CELL BIOLOGY

TRF2 functions as a protein hub and regulates telomere maintenance by recognizing specific peptide motifs

(2009) Hyeung Kim et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Forced G1-phase reduction alters mode of division, neuron number, and laminar phenotype in the cerebral cortex

(2009) L.-J. Pilaz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Many roads lead to primary autosomal recessive microcephaly

(2009) Angela M. Kaindl et al.   PROGRESS IN NEUROBIOLOGY

MCPH1/BRIT1 cooperates with E2F1 in the activation of checkpoint, DNA repair and apoptosis

(2008) Shan-Zhong Yang et al.   EMBO REPORTS

Microcephalin/MCPH1 Associates with the Condensin II Complex to Function in Homologous Recombination Repair

(2008) Jamie L. Wood et al.   JOURNAL OF BIOLOGICAL CHEMISTRY