Centrosomes and cilia in human disease

M Bettencourt-Dias, F Hildebrandt, D Pellman… - Trends in Genetics, 2011 - cell.com
Centrioles are microtubule-derived structures that are essential for the formation of
centrosomes, cilia and flagella. The centrosome is the major microtubule organiser in animal …

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

CG Woods, J Bond, W Enard - The American Journal of Human Genetics, 2005 - cell.com
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is
characterized by two principal features, microcephaly present at birth and nonprogressive …

Mutations in aurora prevent centrosome separation leading to the formation of monopolar spindles

DM Glover, MH Leibowitz, DA McLean, H Parry - Cell, 1995 - cell.com
We show that female sterile mutations of aurora (aur) are allelic to mutations in the lethal
complementation group ck TM. This lies in a cytogenetic interval, 87A7-A9, that contains …

ASPM is a major determinant of cerebral cortical size

J Bond, E Roberts, GH Mochida, DJ Hampshire… - Nature …, 2002 - nature.com
One of the most notable trends in mammalian evolution is the massive increase in size of the
cerebral cortex, especially in primates. Humans with autosomal recessive primary …

The 3Ms of central spindle assembly: microtubules, motors and MAPs

M Glotzer - Nature reviews Molecular cell biology, 2009 - nature.com
During metaphase, sister chromatids are positioned at the midpoint of the microtubule-
based mitotic spindle in preparation for their segregation. The onset of anaphase triggers …

polo encodes a protein kinase homolog required for mitosis in Drosophila.

S Llamazares, A Moreira, A Tavares… - Genes & …, 1991 - genesdev.cshlp.org
We show that mutation in polo leads to a variety of abnormal mitoses in Drosophila larval
neuroblasts. These include otherwise normal looking mitotic spindles upon which …

Human microcephaly

CG Woods - Current opinion in neurobiology, 2004 - Elsevier
Microcephaly is defined as a reduction in head circumference and this clinical finding infers
that an individual has a significant diminution in brain volume. Microcephaly can be usefully …

Autosomal recessive primary microcephaly: not just a small brain

S Zaqout, AM Kaindl - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
Microcephaly or reduced head circumference results from a multitude of abnormal
developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …

The Caenorhabditis elegans centrosomal protein SPD-2 is required for both pericentriolar material recruitment and centriole duplication

L Pelletier, N Özlü, E Hannak, C Cowan, B Habermann… - Current Biology, 2004 - cell.com
Background: The centrosome is composed of a centriole pair and pericentriolar material
(PCM). By marking the site of PCM assembly, the centrioles define the number of …

Evolution of the Human ASPM Gene, a Major Determinant of Brain Size

J Zhang - Genetics, 2003 - academic.oup.com
The size of human brain tripled over a period of∼ 2 million years (MY) that ended 0.2–0.4
MY ago. This evolutionary expansion is believed to be important to the emergence of human …