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

Karine Poirier, Nicolas Lebrun, Loïc Broix, +32

Nature Genetics

Developmental AnomalyDevelopmental BiologyBrain DevelopmentDevelopmental GeneticsGenetics +7

The centrosome protein AKNA regulates neurogenesis via microtubule organization

Germán Camargo Ortega, Sven Falk, Pia A. Johansson, +27

Nature

Microtubule OrganizationDevelopmental BiologyNeural Stem CellCytoskeletonMolecular Neurobiology +3

ATAT1-enriched vesicles promote microtubule acetylation via axonal transport

Aviel Even, Giovanni Morelli, Loïc Broix, +17

Science Advances

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown

Yoann Saillour, Loïc Broix, Elodie Bruel‐Jungerman, +7

Human Molecular Genetics

BiologyBeta Tubulin IsoformsCellular NeurobiologyDevelopmental BiologyTubulin Subunits +13

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

Loïc Broix, Laure Asselin, Carla G. Silva, +17

Human Molecular Genetics

Brain DevelopmentGeneticsCytoskeletonCell CycleCell Cycle Alterations +15

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Julia Lauer Zillhardt, Karine Poirier, Loïc Broix, +33

European Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderBrain DevelopmentDevelopmental Genetics +11

HOXC4 homeoprotein efficiently expands human hematopoietic stem cells and triggers similar molecular alterations as HOXB4

Céline Auvray, Françoise Pflumio, Rima Haddad, +7

Haematologica

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

Ekaterina L. Ivanova, Johan Gilet, Vadym Sulimenko, +20

Nature Communications

ATP-citrate lyase promotes axonal transport across species

Aviel Even, Giovanni Morelli, Silvia Turchetto, +16

Nature Communications

Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny

Johan Gilet, Ekaterina L. Ivanova, Daria Trofimova, +15

Human Molecular Genetics

GeneticsGenomic MechanismMolecular GeneticsNew InsightsDisease Gene Identification +15