2018/12/01 by Fabrício Guimarães Gonçalves, Tomás de Andrade Lourenção Freddi, Ajay Taranath +7 · 1 voice
Biochemistry, Genetics and Molecular Biology · #Microtubule and mitosis dynamics #Cellular Mechanics and Interactions #Protein Kinase Regulation and GTPase Signaling
paper · doi:10.1097/rmr.0000000000000188
openalex publication_date 2018/12/01 · openalex created_date 2022/05/12 · openalex updated_date 2026/07/30
Mutations causing dysfunction of the tubulins and microtubule-associated proteins, otherwise known as tubulinopathies, are a group of recently described entities, that lead to complex brain malformations. An understanding of the fundamental principles of operation of the cytoskeleton and compounds in particular microtubules, actin, and microtubule-associated proteins, can assist in the interpretation of the imaging findings of tubulinopathies. Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (found in 75% of cases), callosal dysgenesis, cerebellar hypoplasia/dysplasia, and cortical malformations, most notably lissencephaly. Recognizing the common imaging phenotypes present in tubulinopathies can prove invaluable in directing the genetic workup for a patient with brain malformations.