A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies

Microtubule severing enzymes implement a diverse range of tissue-specific molecular functions throughout development and into adulthood. Although microtubule severing is fundamental to many dynamic neural processes, little is known regarding the role of the family member Katanin p60 subunit A-like 1...

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Veröffentlicht in:	Molecular psychiatry 2018-03, Vol.23 (3), p.713-722
Hauptverfasser:	Banks, G, Lassi, G, Hoerder-Suabedissen, A, Tinarelli, F, Simon, M M, Wilcox, A, Lau, P, Lawson, T N, Johnson, S, Rutman, A, Sweeting, M, Chesham, J E, Barnard, A R, Horner, N, Westerberg, H, Smith, L B, Molnár, Z, Hastings, M H, Hirst, R A, Tucci, V, Nolan, P M
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208 631/378 Adenosine Triphosphatases - metabolism Animals Anxiety Autism Behavioral Sciences Biological Psychology Brain research Cell migration Central nervous system Cilia Cilia - genetics Cilia - physiology Circadian rhythm Circadian Rhythm - genetics Circadian rhythms Electroencephalography Electromyography Enzymes Ependyma - metabolism Ependymal cells Gene mutation Genetic aspects Health aspects Humans Intellectual disabilities Katanin - genetics Katanin - metabolism Learning Medical research Medicine Medicine & Public Health Memory Mice Mice, Inbred C57BL Microcephaly Microencephaly Microscopy Microtubules - metabolism Missense mutation Mutants Mutation Mutation, Missense Nervous system Neurogenesis Neurons - metabolism Neurons - pathology Neurosciences Original original-article Pharmacotherapy Phenotype Polyvinyl chloride Psychiatry Psychological aspects Sleep Sleep - genetics Software Tomography Ventricle
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