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