Citations for
1FAM126A, HCC
Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum.
Miyamoto Y, Torii T, Eguchi T, Nakamura K, Tanoue A, Yamauchi J.
J Clin Neurosci 21(6):1033-9. doi: 10.1016/j.jocn.2013.09.014. Epub 2013 Nov 14. 2014
2FAM126A, HCC
Novel FAM126A mutations in hypomyelination and congenital cataract disease.
Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R.
Biochem Biophys Res Commun 439(3):369-72. doi: 10.1016/j.bbrc.2013.08.077. Epub 2013 Aug 30. 2013
3FAM126A
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.
Gazzerro E, Baldassari S, Giacomini C, Musante V, Fruscione F, La Padula V, Biancheri R, Scarfì S, Prada V, Sotgia F, Duncan ID, Zara F, Werner HB, Lisanti MP, Nobbio L, Corradi A, Minetti C.
PLoS One 7(3):e32180. doi: 10.1371/journal.pone.0032180. Epub 2012 Mar 26. 2012
4FAM126A, HCC
Hypomyelination and congenital cataract: broadening the clinical phenotype.
Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI.
Arch Neurol 68(9):1191-4. doi: 10.1001/archneurol.2011.201. Review. 2011
5FAM126A, HCC
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
Ugur SA, Tolun A.
Eur J Hum Genet 16(2):261-4. Epub 2007 Oct 10. 2008
6FAM126A, HCC
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C.
Nat Genet 38(10):1111-3. Epub 2006 Sep 3. 2006
7FAM126A
Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin.
Kawasoe T, Furukawa Y, Daigo Y, Nishiwaki T, Ishiguro H, Fujita M, Satoh S, Miwa N, Nagasawa Y, Miyoshi Y, Ogawa M, Nakamura Y.
Cancer Res 60(13):3354-8. 2000