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Lisbeth Birk Møller
Lisbeth Birk Møller
Kennnedy centret Københavns Universitet
Verified email at regionh.dk
Title
Cited by
Cited by
Year
Menkes disease
Z Tümer, LB Møller
European Journal of Human Genetics 18 (5), 511-518, 2010
4182010
Crystal structure of a copper-transporting PIB-type ATPase
P Gourdon, XY Liu, T Skjørringe, JP Morth, LB Møller, BP Pedersen, ...
Nature 475 (7354), 59-64, 2011
3642011
Mannose 6-phosphate/insulin-like growth factor–II receptor targets the urokinase receptor to lysosomes via a novel binding interaction
A Nykjær, EI Christensen, H Vorum, H Hager, CM Petersen, H Røigaard, ...
The Journal of cell biology 141 (3), 815-828, 1998
1771998
Missense dopamine transporter mutations associate with adult parkinsonism and ADHD
FH Hansen, T Skjørringe, S Yasmeen, NV Arends, MA Sahai, K Erreger, ...
The Journal of clinical investigation 124 (7), 3107-3120, 2014
1532014
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome
LB Møller, Z Tümer, C Lund, C Petersen, T Cole, R Hanusch, J Seidel, ...
The American Journal of Human Genetics 66 (4), 1211-1220, 2000
1532000
Control of copper homeostasis in Escherichia coli by a P-type ATPase, CopA, and a MerR-like transcriptional activator, CopR
C Petersen, LB Møller
Gene 261 (2), 289-298, 2000
1412000
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
JLK Van Hove, J Steyaert, G Matthijs, E Legius, P Theys, R Wevers, ...
Journal of Neurology, Neurosurgery & Psychiatry 77 (1), 18-23, 2006
1362006
Copper-transporting P-type ATPases use a unique ion-release pathway
M Andersson, D Mattle, O Sitsel, T Klymchuk, AM Nielsen, LB Møller, ...
Nature structural & molecular biology 21 (1), 43-48, 2014
1192014
Structure and function of the urokinase receptor
LB Møller
Blood coagulation & fibrinolysis 4 (2), 293-304, 1993
1161993
The RihA, RihB, and RihC ribonucleoside hydrolases of Escherichia coli: substrate specificity, gene expression, and regulation
C Petersen, LB Møller
Journal of Biological Chemistry 276 (2), 884-894, 2001
1022001
N-linked glycosylation of the ligand-binding domain of the human urokinase receptor contributes to the affinity for its ligand
LB Møller, J Pöllänen, E Rønne, N Pedersen, F Blasi
Journal of Biological Chemistry 268 (15), 11152-11159, 1993
1001993
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
C Jespersgaard, M Fang, M Bertelsen, X Dang, H Jensen, Y Chen, ...
Scientific reports 9 (1), 1219, 2019
992019
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin
P Huppke, C Brendel, V Kalscheuer, GC Korenke, I Marquardt, ...
The American Journal of Human Genetics 90 (1), 61-68, 2012
992012
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
C Bonnet, Z Riahi, S Chantot-Bastaraud, L Smagghe, M Letexier, ...
European Journal of Human Genetics 24 (12), 1730-1738, 2016
982016
Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene
LB Møller, C Petersen, C Lund, N Horn
Gene 257 (1), 13-22, 2000
912000
Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance
SS Kaalund, MT Venø, M Bak, RS Møller, H Laursen, F Madsen, ...
Epilepsia 55 (12), 2017-2027, 2014
872014
Molecular diagnosis of Menkes disease: genotype–phenotype correlation
LB Møller, M Mogensen, N Horn
Biochimie 91 (10), 1273-1277, 2009
852009
Impairment of interrelated iron-and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders
T Skjørringe, LB Møller, T Moos
Frontiers in pharmacology 3, 169, 2012
842012
Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease
Z Tümer, LB Møller, N Horn
Copper transport and its disorders: molecular and cellular aspects, 83-95, 1999
841999
Biopterin responsive phenylalanine hydroxylase deficiency
R Matalon, R Koch, K Michals-Matalon, K Moseley, S Surendran, S Tyring, ...
Genetics in Medicine 6 (1), 27-32, 2004
832004
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