Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sidsel Salling Thorborg"'
Autor:
Tina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, Poul Nissen, Pontus Gourdon, Lisbeth Birk Møller
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-18 (2017)
Abstract Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found in the Trans-Golgi Network (TGN) at low copper concentrations, and in the post-Golg
Externí odkaz:
https://doaj.org/article/31afdcd2171345e18a1b524b05516b28
Autor:
Vibe Hellmund, Gösta Nachman, Sidsel Salling Thorborg, Erik Dupont, Cathrine Jespersgaard, Troels S. Jensen, Ole J. Bjerrum, Arafat Nasser, Jens Lykkesfeldt, Lisbeth Birk Møller, Anette Torvin Møller
Publikováno v:
Nasser, A, Møller, A T, Hellmund, V, Thorborg, S S, Jespersgaard, C, Bjerrum, O J, Dupont, E, Nachman, G, Lykkesfeldt, J, Jensen, T S & Møller, L B 2018, ' Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity ', Pain, vol. 159, no. 6, pp. 1012-1024 . https://doi.org/10.1097/j.pain.0000000000001175
Human studies have demonstrated a correlation between noncoding polymorphisms of "the pain protective" haplotype in the GCH1 gene that encodes for GTP cyclohydrolase I (GTPCH1)-which leads to reduced tetrahydrobiopterin (BH4) production in cell syste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f23e654e8728f017d7b8ff8c9bf95be
https://pure.au.dk/portal/da/publications/heterozygous-mutations-in-gtpcyclohydrolase1-reduce-bh4-biosynthesis-but-not-pain-sensitivity(a201b5ce-84db-4e80-9266-b9d1bb009f0a).html
https://pure.au.dk/portal/da/publications/heterozygous-mutations-in-gtpcyclohydrolase1-reduce-bh4-biosynthesis-but-not-pain-sensitivity(a201b5ce-84db-4e80-9266-b9d1bb009f0a).html
Autor:
Pontus Gourdon, Per Amstrup Pedersen, Lisbeth Birk Møller, Tina Skjørringe, Poul Nissen, Sidsel Salling Thorborg
Publikováno v:
Skjørringe, T, Pedersen, P A, Thorborg, S S, Nissen, P, Gourdon, P E & Møller, L B 2017, ' Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease ', Scientific Reports, vol. 7, 757 . https://doi.org/10.1038/s41598-017-00618-6
Skjørringe, T, Pedersen, P A, Thorborg, S S, Nissen, P, Gourdon, P & Møller, L B 2017, ' Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease ', Scientific Reports, vol. 7, no. 1, 757 . https://doi.org/10.1038/s41598-017-00618-6
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-18 (2017)
Skjørringe, T, Pedersen, P A, Thorborg, S S, Nissen, P, Gourdon, P & Møller, L B 2017, ' Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease ', Scientific Reports, vol. 7, no. 1, 757 . https://doi.org/10.1038/s41598-017-00618-6
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-18 (2017)
Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found in the Trans-Golgi Network (TGN) at low copper concentrations, and in the post-Golgi compart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5727c3323fc7b95dd399d98061308406
https://curis.ku.dk/portal/da/publications/characterization-of-atp7a-missense-mutants-suggests-a-correlation-between-intracellular-trafficking-and-severity-of-menkes-disease(1e2115a9-bcf6-48c8-88d2-af2c8f46c075).html
https://curis.ku.dk/portal/da/publications/characterization-of-atp7a-missense-mutants-suggests-a-correlation-between-intracellular-trafficking-and-severity-of-menkes-disease(1e2115a9-bcf6-48c8-88d2-af2c8f46c075).html
Autor:
Deirdre E. Donnelly, Patrick J. Morrison, Sidsel Salling Thorborg, Tina Skjørringe, Saiqa Yasmeen, Lisbeth Birk Møller, Gillian Rea
Publikováno v:
Molecular genetics and metabolism. 110(4)
We present a case of classical Menkes disease (MD) due to a novel "silent" substitution in the ATP7A gene; c.2781G>A (p.K927K). The affected nucleotide is the last nucleotide in exon 13, and affects mRNA splicing. Transcripts missing exon 13; and tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a435b537ca52e125f5e1be9069f2025d
https://pubmed.ncbi.nlm.nih.gov/24100245
https://pubmed.ncbi.nlm.nih.gov/24100245