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

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About: A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
title	A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies
Creator	Banks, G Hoerder-Suabedissen, A Horner, N Johnson, S Lassi, G Lau, P Molnár, Z Rutman, A Sweeting, M Tinarelli, F Tucci, V Westerberg, H Wilcox, A Simon, M Smith, L Barnard, A Chesham, J Hastings, M Hirst, R Lawson, T Nolan, P
source	PMC
abstract	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, KATNAL1, in central nervous system (CNS) function. Recent studies reporting that microdeletions incorporating the KATNAL1 locus in humans result in intellectual disability and microcephaly suggest that KATNAL1 may play a prominent role in the CNS; however, such associations lack the functional data required to highlight potential mechanisms which link the gene to disease symptoms. Here we identify and characterise a mouse line carrying a loss of function allele in Katnal1. We show that mutants express behavioural deficits including in circadian rhythms, sleep, anxiety and learning/memory. Furthermore, in the brains of Katnal1 mutant mice we reveal numerous morphological abnormalities and defects in neuronal migration and morphology. Furthermore we demonstrate defects in the motile cilia of the ventricular ependymal cells of mutants, suggesting a role for Katnal1 in the development of ciliary function. We believe the data we present here are the first to associate KATNAL1 with such phenotypes, demonstrating that the protein plays keys roles in a number of processes integral to the development of neuronal function and behaviour.
has issue date	2017-04-04(xsd:dateTime)
bibo:doi	10.1038/mp.2017.54
bibo:pmid	28373692
has license	cc-by
sha1sum (hex)	f4cebabd74b16e710fb41a737d8ef84b7d565d8d
schema:url	https://doi.org/10.1038/mp.2017.54
resource representing a document's title	A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies
has PubMed Central identifier	PMC5761721
has PubMed identifier	28373692
schema:publication	Mol Psychiatry
resource representing a document's body	covid:f4cebabd74b16e710fb41a737d8ef84b7d565d8d#body_text
is schema:about of	named entity 'function' named entity 'result' named entity 'morphology' named entity 'central nervous system (CNS)' named entity 'circadian rhythms' named entity 'phenotypes' named entity 'anomalies' named entity 'SPECIFIC' covid:arg/f4cebabd74b16e710fb41a737d8ef84b7d565d8d named entity 'VENTRICULAR' named entity 'MEMORY' named entity 'A MOUSE' named entity 'NEURONAL' named entity 'RECENT' named entity 'MISSENSE MUTATION' named entity 'NEUROLOGICAL' named entity 'ANXIETY' named entity 'CNS' named entity 'NUMEROUS' named entity 'INTELLECTUAL DISABILITY' named entity 'TO ASSOCIATE' named entity 'REVEAL' named entity 'POTENTIAL' named entity 'ROLE' named entity 'FUNCTION' named entity 'PHENOTYPES' named entity 'PROCESSES' named entity 'DISEASE' named entity 'KATANIN P60 SUBUNIT A-LIKE 1' named entity 'GENE' named entity 'FUNCTIONS' named entity 'ABNORMALITIES' named entity 'MORPHOLOGY' named entity 'CILIARY' named entity 'LITTLE' named entity 'FUNCTIONAL' named entity 'CIRCADIAN RHYTHMS' named entity 'BRAINS' named entity 'PROTEIN ' named entity 'ADULTHOOD' named entity 'MOLECULAR' named entity 'INCLUDING' named entity 'EXPRESS' named entity 'KATNAL1' named entity 'BEHAVIOURAL' named entity 'CILIARY' named entity 'PROMINENT' named entity 'PLAY' named entity 'MECHANISMS' named entity 'INTEGRAL' named entity 'NUMBER OF' named entity 'SUGGEST' named entity 'LOCUS' named entity 'MICROCEPHALY' named entity 'MICE' named entity 'KNOWN' named entity 'EPENDYMAL CELLS' named entity 'PLAYS' named entity 'KEYS' named entity 'DIVERSE' named entity 'FAMILY MEMBER'

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