المؤلفون: De Vizcaya Ruiz, Andrea M. G.

مصطلحات موضوعية: 615.1, Menkes disease, Wilson's disease, Metabolism

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.310720Test

المؤلفون: Cunliffe, Pamela

مصطلحات موضوعية: 572.8, Menkes disease, Copper transport

الوصول الحر: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301902Test

المصدر: Gerdes , A M A , Møller , L B & Horn , N 2023 , ' Ethics in pre-ART genetics : a missed X-linked Menkes disease case ' , Journal of Assisted Reproduction and Genetics , vol. 40 , no. 4 , pp. 811-816 .

مصطلحات الفهرس: Assisted reproductive technologies (ART), ATP7A, Igenomix, Menkes disease, Preconception screening, Variant evaluation, article

URL: https://curis.ku.dk/portal/da/publications/ethics-in-preart-geneticsTest(f66e2bd0-bb49-4417-8515-d1d971a1747e).html
https://doi.org/10.1007/s10815-023-02778-zTest
https://curis.ku.dk/ws/files/369084652/s10815_023_02778_z.pdfTest

المصدر: BMC Genomics

مصطلحات الفهرس: Biotechnology and applied microbiology; Genetics and heredity, Copper transport; Copper homeostasis; Cell cycle regulation; Wilson disease; Menkes disease; Yeast; Copper chaperon; Saccharomyces-Cerevisiae encodes; Genetic interaction networks; Wall biogenesis; Expression; Model; Iron; Metabolism; Wilson; Atox1; Metallochaperone, Journal article, text/academic publication

URL: http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/491Test
http://worldcat.org/oclc/1200729335/viewonlineTest
Publisher version
Koç University Institutional Repository

مصطلحات الفهرس: ATP7A, ATP7A-related motor neuropathy, ATP7B, copper, copper homeostasis, menkes disease, occipital horn syndrome, Wilson disease, Journal Article

URL: http://hdl.handle.net/10536/DRO/DU:30057789Test
https://www.frontiersin.org/articles/10.3389/fnagi.2013.00044/pdfTest
http://doi.org/10.3389/fnagi.2013.00044Test
issn: 1663-4365
https://www.frontiersin.org/articles/10.3389/fnagi.2013.00044/pdfTest
http://doi.org/10.3389/fnagi.2013.00044Test
Frontiers in aging neuroscience

المصدر: Gourdon , P E , Sitsel , O , Karlsen , J L , Moller , L B & Nissen , P 2012 , ' Structural models of the human copper P-type ATPases ATP7A and ATP7B ' , Biological Chemistry , vol. 393 , no. 4 , pp. 205-216 .

مصطلحات الفهرس: ATP7A/ATP7B, CopA, Cu+-ATPase, homology model, Menkes disease, Wilson disease, article

URL: https://curis.ku.dk/portal/da/publications/structural-models-of-the-human-copper-ptype-atpases-atp7a-and-atp7bTest(58a57642-99d3-432a-98ff-f4cb93fd45a9).html
https://doi.org/10.1515/hsz-2011-0249Test

المصدر: Gourdon , P E , Sitsel , O , Karlsen , J L , Moller , L B & Nissen , P 2012 , ' Structural models of the human copper P-type ATPases ATP7A and ATP7B ' , Biological Chemistry , vol. 393 , no. 4 , pp. 205-216 .

مصطلحات الفهرس: ATP7A/ATP7B, CopA, Cu+-ATPase, homology model, Menkes disease, Wilson disease, article

URL: https://curis.ku.dk/portal/da/publications/structural-models-of-the-human-copper-ptype-atpases-atp7a-and-atp7bTest(58a57642-99d3-432a-98ff-f4cb93fd45a9).html
https://doi.org/10.1515/hsz-2011-0249Test

مصطلحات الفهرس: copper-deficiency myeloneuropathy, inclusion-body myopathy, occipital-horn-syndrome, menkes-disease, neuron disease, frontotemporal dementia, regulated trafficking, hippocampal-neurons, muscular-atrophy, plasma-membrane, Journal Article

URL: http://hdl.handle.net/10536/DRO/DU:30046901Test
https://academic.oup.com/hmg/article-pdf/21/8/1794/17258884/ddr612.pdfTest
issn: 0964-6906
issn: 1460-2083
https://academic.oup.com/hmg/article-pdf/21/8/1794/17258884/ddr612.pdfTest
http://dx.doi.org/10.1093/hmg/ddr612Test
Human molecular genetics

مصطلحات الفهرس: metal-binding domain, protein–protein interaction, copper, glutaredoxin, GRX1, Menkes disease, Wilson disease, P-type ATPase, ATP7A, ATP7B, Journal Article

URL: http://hdl.handle.net/10536/DRO/DU:30003772Test
https://dro.deakin.edu.au/eserv/DU:30003772/lim-copperdependentinteraction-2006.pdfTest
issn: 0006-291X
issn: 1090-2104
https://dro.deakin.edu.au/eserv/DU:30003772/lim-copperdependentinteraction-2006.pdfTest
http://dx.doi.org/10.1016/j.bbrc.2006.07.067Test
Biochemical and biophysical research communications

مصطلحات الفهرس: gene correction, Menkes disease, copper-transporting ATPase, Menkes protein, brindled mutant mouse, CAG-promoter, Journal Article

URL: http://hdl.handle.net/10536/DRO/DU:30003757Test
https://dro.deakin.edu.au/eserv/DU:30003757/llanos-correctionofamouse-2006.pdfTest
issn: 0925-4439
https://dro.deakin.edu.au/eserv/DU:30003757/llanos-correctionofamouse-2006.pdfTest
http://dx.doi.org/10.1016/j.bbadis.2005.12.011Test
Biochimica et biophysica acta (BBA) - molecular basis of disease