Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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Fältnamn	Indikatorer	Metadata
000		03040naa a2200325 4500
001		oai:DiVA.org:umu-132645
003		SwePub
008		170320s2017 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1326452 URI
024	7	a https://doi.org/10.1001/jamaneurol.2016.37122 DOI
040		a (SwePub)umu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Freischmidt, Axel4 aut
245	1 0	a Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
264	1	b American Medical Association,c 2017
338		a print2 rdacarrier
520		a Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative syndromes that occur sporadically or have been associated with mostly dominant inheritance of mutations in more than 30 genes. A critical issue is whether all reported mutations are disease causing or are coincidental findings. In this review we analyze the pathogenicity of nonsynonymous variants in the newly discovered gene encoding TANK-binding kinase 1 (TBK1). The available data suggest that mutations in TBK1 that cause a 50% reduction of TBK1 protein levels are pathogenic. In most cases, the almost complete loss of expression of the mutated TBK1 allele is due to loss-of-function mutations creating a premature termination codon and the degradation of the mutated messenger RNA by nonsense-mediated messenger RNA decay. In addition, TBK1 protein levels reduced by 50% have been proven for specific in-frame deletions of 1 or several amino acids, probably due to increased degradation of the mutated protein. Evaluation of many of the TBK1 missense mutations found in patients with ALS or FTD is prevented by missing data demonstrating cosegregation of the variants and incomplete knowledge about the TBK1 functions relevant for neurodegeneration. These findings suggest that haploinsufficiency of TBK1 is causative for ALS and FTD regardless of the type of mutation. Evaluation of TBK1 variants that do not cause haploinsufficiency is not possible without data demonstrating cosegregation.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
700	1	a Müller, Kathrin4 aut
700	1	a Ludolph, Albert C.4 aut
700	1	a Weishaupt, Jochen H.4 aut
700	1	a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap,Department of Neurology, Ulm University, Ulm, Germany4 aut0 (Swepub:umu)pean0001
710	2	a Umeå universitetb Klinisk neurovetenskap4 org
773	0	t JAMA Neurologyd : American Medical Associationg 74:1, s. 110-113q 74:1<110-113x 2168-6149x 2168-6157
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-132645
856	4 8	u https://doi.org/10.1001/jamaneurol.2016.3712

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By the author/editor: Freischmidt, Axe ...; Müller, Kathrin; Ludolph, Albert ...; Weishaupt, Joche ...; Andersen, Peter ...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Neurosciences

Articles in the publication: JAMA Neurology

By the university: Umeå University

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