Ciliopathies

F Hildebrandt, T Benzing… - New England Journal of …, 2011 - Mass Medical Soc
Ciliopathies | NEJM Skip to main content NEJM Group Follow Us Facebook Twitter Instagram
YouTube LinkedIn Prepare to become a physician, build your knowledge, lead a health care …

Cell cycle regulation by the NEK family of protein kinases

AM Fry, L O'Regan, SR Sabir… - Journal of cell …, 2012 - journals.biologists.com
Genetic screens for cell division cycle mutants in the filamentous fungus Aspergillus
nidulans led to the discovery of never-in-mitosis A (NIMA), a serine/threonine kinase that is …

When cilia go bad: cilia defects and ciliopathies

M Fliegauf, T Benzing, H Omran - Nature reviews Molecular cell biology, 2007 - nature.com
Defects in the function of cellular organelles such as peroxisomes, lysosomes and
mitochondria are well-known causes of human diseases. Recently, another organelle has …

[HTML][HTML] The vertebrate primary cilium in development, homeostasis, and disease

JM Gerdes, EE Davis, N Katsanis - Cell, 2009 - cell.com
Cilia are complex structures that have garnered interest because of their roles in vertebrate
development and their involvement in human genetic disorders. In contrast to multicellular …

Proteomic analysis of a eukaryotic cilium

GJ Pazour, N Agrin, J Leszyk, GB Witman - The Journal of cell biology, 2005 - rupress.org
Cilia and flagella are widespread cell organelles that have been highly conserved
throughout evolution and play important roles in motility, sensory perception, and the life …

Post-translational modifications regulate microtubule function

S Westermann, K Weber - Nature reviews Molecular cell biology, 2003 - nature.com
The αβ-tubulin heterodimer, the building block of microtubules, is subject to a large number
of post-translational modifications, comparable in diversity to the intensively studied histone …

Nephronophthisis: disease mechanisms of a ciliopathy

F Hildebrandt, M Attanasio, E Otto - Journal of the American …, 2009 - journals.lww.com
Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic
cause of end-stage kidney disease in children and young adults. Positional cloning of nine …

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding

ML McWhorter, UR Monani, AHM Burghes… - The Journal of cell …, 2003 - rupress.org
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by a loss
of α motoneurons in the spinal cord. SMA is caused by low levels of the ubiquitously …

Stages of ciliogenesis and regulation of ciliary length

P Avasthi, WF Marshall - Differentiation, 2012 - Elsevier
Cilia and flagella are highly conserved eukaryotic microtubule-based organelles that
protrude from the surface of most mammalian cells. These structures require large protein …

[HTML][HTML] Comparative analysis of the kinomes of three pathogenic trypanosomatids: Leishmania major, Trypanosoma brucei and Trypanosoma cruzi

M Parsons, EA Worthey, PN Ward, JC Mottram - BMC genomics, 2005 - Springer
Abstract Background The trypanosomatids Leishmania major, Trypanosoma brucei and
Trypanosoma cruzi cause some of the most debilitating diseases of humankind: cutaneous …