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10.1038/ncomms11601 http://scihub22266oqcxt.onion/10.1038/ncomms11601 C4894980!4894980 !27231142     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27231142 &cmd=llinks): Failed to open stream: HTTP request failed! 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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia |pdf=|usr=}}{{27231142 }} gab.com Text Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia JO: Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=27231142 #FOAvip Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates. Twit Text FOAVip Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia ????Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=27231142 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27231142 #FOAvip English Wikipedia <ref>{{Cite pmid|27231142 }}</ref> Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia #MMPMID27231142 Tuschl K ; Meyer E ; Valdivia LE ; Zhao N ; Dadswell C ; Abdul-Sada A ; Hung CY ; Simpson MA ; Chong WK ; Jacques TS ; Woltjer RL ; Eaton S ; Gregory A ; Sanford L ; Kara E ; Houlden H ; Cuno SM ; Prokisch H ; Valletta L ; Tiranti V ; Younis R ; Maher ER ; Spencer J ; Straatman-Iwanowska A ; Gissen P ; Selim LA ; Pintos-Morell G ; Coroleu-Lletget W ; Mohammad SS ; Yoganathan S ; Dale RC ; Thomas M ; Rihel J ; Bodamer OA ; Enns CA ; Hayflick SJ ; Clayton PT ; Mills PB ; Kurian MA ; Wilson SW Nat Commun 2016[May]; 7 (ä): 11601 PMID27231142 show ga Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates. |*Homeostasis [MESH] |*Mutation [MESH] |Adolescent [MESH] |Animals [MESH] |Cation Transport Proteins/*genetics/metabolism [MESH] |Child [MESH] |Child, Preschool [MESH] |Dystonic Disorders/*genetics/metabolism [MESH] |Female [MESH] |Genetic Predisposition to Disease/genetics [MESH] |HEK293 Cells [MESH] |Humans [MESH] |Male [MESH] |Manganese/blood/*metabolism [MESH] |Parkinsonian Disorders/*genetics/metabolism [MESH] |Pedigree [MESH] |Young Adult [MESH]Mutations in SLC39A14 disrupt manganese homeostasis and cause childhoo(epmc).pdf DeepDyve Pubget Overpricing