184 related articles for article (PubMed ID: 24754424)
1. AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.
Martinelli D; Dionisi-Vici C
Ann N Y Acad Sci; 2014 May; 1314():55-63. PubMed ID: 24754424
[TBL] [Abstract][Full Text] [Related]
2. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D; Travaglini L; Drouin CA; Ceballos-Picot I; Rizza T; Bertini E; Carrozzo R; Petrini S; de Lonlay P; El Hachem M; Hubert L; Montpetit A; Torre G; Dionisi-Vici C
Brain; 2013 Mar; 136(Pt 3):872-81. PubMed ID: 23423674
[TBL] [Abstract][Full Text] [Related]
3. Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.
Alsaif HS; Al-Owain M; Barrios-Llerena ME; Gosadi G; Binamer Y; Devadason D; Ravenscroft J; Suri M; Alkuraya FS
Am J Hum Genet; 2019 Nov; 105(5):1016-1022. PubMed ID: 31630791
[TBL] [Abstract][Full Text] [Related]
4. MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Incecik F; Bisgin A; Yılmaz M
Metab Brain Dis; 2018 Dec; 33(6):2065-2068. PubMed ID: 30244301
[TBL] [Abstract][Full Text] [Related]
5. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
Montpetit A; Côté S; Brustein E; Drouin CA; Lapointe L; Boudreau M; Meloche C; Drouin R; Hudson TJ; Drapeau P; Cossette P
PLoS Genet; 2008 Dec; 4(12):e1000296. PubMed ID: 19057675
[TBL] [Abstract][Full Text] [Related]
6. [From gene to disease: copper-transporting P ATPases alteration].
Garcia Hejl C; Vrignaud C; Garcia C; Ceppa F
Pathol Biol (Paris); 2009 May; 57(3):272-9. PubMed ID: 19046832
[TBL] [Abstract][Full Text] [Related]
7. Polarized sorting of the copper transporter ATP7B in neurons mediated by recognition of a dileucine signal by AP-1.
Jain S; Farías GG; Bonifacino JS
Mol Biol Cell; 2015 Jan; 26(2):218-28. PubMed ID: 25378584
[TBL] [Abstract][Full Text] [Related]
8. [Structure and function of ATP7A and ATP7B proteins--Cu-transporting ATPases].
Lenartowicz M; Krzeptowski W
Postepy Biochem; 2010; 56(3):317-27. PubMed ID: 21117320
[TBL] [Abstract][Full Text] [Related]
9. Pluripotent stem cell-derived bile canaliculi-forming hepatocytes to study genetic liver diseases involving hepatocyte polarity.
Overeem AW; Klappe K; Parisi S; Klöters-Planchy P; Mataković L; du Teil Espina M; Drouin CA; Weiss KH; van IJzendoorn SCD
J Hepatol; 2019 Aug; 71(2):344-356. PubMed ID: 30965071
[TBL] [Abstract][Full Text] [Related]
10. AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
Klee KMC; Janecke AR; Civan HA; Rosipal Š; Heinz-Erian P; Huber LA; Müller T; Vogel GF
Hum Genet; 2020 Oct; 139(10):1247-1259. PubMed ID: 32306098
[TBL] [Abstract][Full Text] [Related]
11. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.
La Fontaine S; Mercer JF
Arch Biochem Biophys; 2007 Jul; 463(2):149-67. PubMed ID: 17531189
[TBL] [Abstract][Full Text] [Related]
12. Copper transporting P-type ATPases and human disease.
Cox DW; Moore SD
J Bioenerg Biomembr; 2002 Oct; 34(5):333-8. PubMed ID: 12539960
[TBL] [Abstract][Full Text] [Related]
13. Function and regulation of the mammalian copper-transporting ATPases: insights from biochemical and cell biological approaches.
Lutsenko S; Petris MJ
J Membr Biol; 2003 Jan; 191(1):1-12. PubMed ID: 12532272
[TBL] [Abstract][Full Text] [Related]
14. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
Fieten H; Gill Y; Martin AJ; Concilli M; Dirksen K; van Steenbeek FG; Spee B; van den Ingh TS; Martens EC; Festa P; Chesi G; van de Sluis B; Houwen RH; Watson AL; Aulchenko YS; Hodgkinson VL; Zhu S; Petris MJ; Polishchuk RS; Leegwater PA; Rothuizen J
Dis Model Mech; 2016 Jan; 9(1):25-38. PubMed ID: 26747866
[TBL] [Abstract][Full Text] [Related]
15. A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
Kim BE; Smith K; Petris MJ
J Med Genet; 2003 Apr; 40(4):290-5. PubMed ID: 12676902
[No Abstract] [Full Text] [Related]
16. Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
Materia S; Cater MA; Klomp LW; Mercer JF; La Fontaine S
J Biol Chem; 2011 Mar; 286(12):10073-83. PubMed ID: 21242307
[TBL] [Abstract][Full Text] [Related]
17. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
de Bie P; Muller P; Wijmenga C; Klomp LW
J Med Genet; 2007 Nov; 44(11):673-88. PubMed ID: 17717039
[TBL] [Abstract][Full Text] [Related]
18. Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport.
Suzuki M; Gitlin JD
Pediatr Int; 1999 Aug; 41(4):436-42. PubMed ID: 10453201
[TBL] [Abstract][Full Text] [Related]
19. Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
Materia S; Cater MA; Klomp LW; Mercer JF; La Fontaine S
J Biol Chem; 2012 Jan; 287(4):2485-99. PubMed ID: 22130675
[TBL] [Abstract][Full Text] [Related]
20. Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol; 2013; 113():1745-54. PubMed ID: 23622398
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
