High throughput sequencing identifies PINK1 p.G47R : a rare mutation identified in a Parkinson’s disease patient

Muscat, Y.; Camilleri, G.; Borg Carbott, Francesca; Karen, C.; Mallia, M.; Vella, N.; Bezzina Wettinger, Stephanie; Farrugia, Rosienne

Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/93422

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DC Field	Value	Language
dc.contributor.author	Muscat, Y.	-
dc.contributor.author	Camilleri, G.	-
dc.contributor.author	Borg Carbott, Francesca	-
dc.contributor.author	Karen, C.	-
dc.contributor.author	Mallia, M.	-
dc.contributor.author	Vella, N.	-
dc.contributor.author	Bezzina Wettinger, Stephanie	-
dc.contributor.author	Farrugia, Rosienne	-
dc.date.accessioned	2022-04-12T06:17:33Z	-
dc.date.available	2022-04-12T06:17:33Z	-
dc.date.issued	2019-07	-
dc.identifier.citation	Muscat, Y., Camilleri, G., Carbott, F. B., Karen, C., Mallia, M., Vella, N., ... Farrugia, R. (2019). High throughput sequencing identifies PINK1 p.G47R : a rare mutation identified in a Parkinson’s disease patient. European Journal of Human Genetics, 27(s1), 968.	en_GB
dc.identifier.uri	https://www.um.edu.mt/library/oar/handle/123456789/93422	-
dc.description.abstract	INTRODUCTION: Heterozygous mutations in PTEN induced kinase-1 (PINK1) reportedly increase risk for late-onset Parkinson disease (PD). PINK1 localises to the mitochondria, recruiting and phosphorylating Parkin leading to mitophagy of damaged mitochondria. Mutations in PINK1 abolish such effect, increasing the vulnerability of cells to oxidative stress.	en_GB
dc.description.abstract	METHODS: High throughput sequencing (HTS) of PD related genes identified an extremely rare mutation, c. G139C:p.G47R in exon 1 of PINK1. The Maltese Geoparkinson collection (158 patients, 378 matched controls) was genotyped for this variant by PCR and RFLP using Hpy166II.	en_GB
dc.description.abstract	[excerpt]	en_GB
dc.language.iso	en	en_GB
dc.publisher	Springer Nature Limited	en_GB
dc.rights	info:eu-repo/semantics/restrictedAccess	en_GB
dc.subject	High-throughput nucleotide sequencing	en_GB
dc.subject	Parkinson's disease -- Genetic aspects	en_GB
dc.subject	Mutation (Biology)	en_GB
dc.title	High throughput sequencing identifies PINK1 p.G47R : a rare mutation identified in a Parkinson’s disease patient	en_GB
dc.type	article	en_GB
dc.rights.holder	The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.	en_GB
dc.bibliographicCitation.conferencename	51st European Society of Human Genetics Conference	en_GB
dc.bibliographicCitation.conferenceplace	Milan, Italy, 16-19/06/2018	en_GB
dc.description.reviewed	peer-reviewed	en_GB
dc.publication.title	European Journal of Human Genetics	en_GB
Appears in Collections:	Scholarly Works - FacHScABS

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