↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Träfflista för sökning "WFRF:(Mattison KA) "

Search: WFRF:(Mattison KA)

Result 1-2 of 2

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Mattison, KA, et al. (author) ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy 2022 In: Brain : a journal of neurology. - : Oxford University Press (OUP). - 1460-2156. ; 146:4, s. 1357-1372 Journal article (peer-reviewed)abstract The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several different types of transporters. We describe heterozygous point variants in ATP6V0C, encoding the c-subunit in the membrane bound integral domain of the vacuolar H+-ATPase, in 27 patients with neurodevelopmental abnormalities with or without epilepsy. Corpus callosum hypoplasia and cardiac abnormalities were also present in some patients. In silico modelling suggested that the patient variants interfere with the interactions between the ATP6V0C and ATP6V0A subunits during ATP hydrolysis. Consistent with decreased vacuolar H+-ATPase activity, functional analyses conducted in Saccharomyces cerevisiae revealed reduced LysoSensor fluorescence and reduced growth in media containing varying concentrations of CaCl2. Knockdown of ATP6V0C in Drosophila resulted in increased duration of seizure-like behaviour, and the expression of selected patient variants in Caenorhabditis elegans led to reduced growth, motor dysfunction and reduced lifespan. In summary, this study establishes ATP6V0C as an important disease gene, describes the clinical features of the associated neurodevelopmental disorder and provides insight into disease mechanisms.
2.	Mattison, KA, et al. (author) ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 2022 In: Brain : a journal of neurology. - 1460-2156. Journal article (peer-reviewed)

Skapa referenser, mejla, bekava och länka

Permalink

Result 1-2 of 2

Refine your search

Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Mattison, KA (2); aut (1); Wedell, A (1); Wredenberg, A (1); Schreiber, A (1); Dobyns, WB (1); show more...; Campeau, PM (1); Douglas, AGL (1); Banka, S (1); Gil-Nagel, A. (1); Breckpot, J. (1); McCann, E (1); Botto, LD (1); Naess, K (1); Morleo, M (1); Nigro, V (1); Simmons, C (1); Sherr, EH (1); Brunetti-Pierri, N (1); Tossing, G (1); Mulroe, F (1); Butler, KM (1); Alsadah, A (1); Neilson, DE (1); Sorlin, A (1); Burghel, GJ (1); Menendez, B (1); Hoganson, GE (1); Filloux, FM (1); Aledo-Serrano, Á (1); Tatton-Brown, K (1); Verbeek, NE (1); van Hirtum-Das, M (1); Hammer, TB (1); Møller, RS (1); Whitney, A (1); Kharbanda, M (1); May, HJ (1); Tao, JX (1); Argili, E (1); Consortium, GER (1); Baines, RA (1); Warwicker, J (1); Parker, JA (1); Escayg, A (1); show less...

University: Karolinska Institutet (2)

Language: English (2)

Year: 2022 (2)

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copyright © LIBRIS - National Library Systems
LIBRIS.kb.se

pil uppåt

Close

Copy and save the link in order to return to this view