Citations for
1CLN7, MFSD8
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.
Sharifi A, Kousi M, Sagnť C, Bellenchi GC, Morel L, Darmon M, HulkovŠ H, Ruivo R, Debacker C, El Mestikawy S, Elleder M, Lehesjoki AE, Jalanko A, Gasnier B, Kyttšlš A.
Hum Mol Genet 19(22):4497-514. Epub 2010 Sep 7. 2010
2MFSD8
Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.
Steenhuis P, Herder S, Gelis S, Braulke T, Storch S.
Traffic 11(7):987-1000. Epub 2010 Apr 16. 2010
3CLN7, MFSD8
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS.
Neurogenetics 10(4):307-11. Epub 2009 Mar 10. 2009
4CLN7, MFSD8
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.
Brain 132(Pt 3):810-9. Epub 2009 Feb 5. 2009
5CLN7, MFSD8
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM.
Hum Mutat 30(3):E530-40. 2009
6CLN7,MFSD8
The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter.
Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE.
Am J Hum Genet 81(1):136-46. Epub 2007 May 14. 2007