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Items: 1 to 20 of 21

1.

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.

Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C.

Eur J Paediatr Neurol. 2015 Jan;19(1):78-86. doi: 10.1016/j.ejpn.2014.07.008. Epub 2014 Aug 7.

PMID:
25439737
2.

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12. doi: 10.1016/j.ejmg.2014.09.004. Epub 2014 Sep 28.

PMID:
25270050
3.

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB.

Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13.

PMID:
25227500
4.

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS.

Neurogenetics. 2009 Oct;10(4):307-11. doi: 10.1007/s10048-009-0185-1. Epub 2009 Mar 10.

PMID:
19277732
5.

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. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975.

PMID:
19177532
6.

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A.

Neurogenetics. 2009 Feb;10(1):73-7. doi: 10.1007/s10048-008-0153-1. Epub 2008 Oct 11.

PMID:
18850119
7.

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. 2007 Jul;81(1):136-46. Epub 2007 May 14.

8.

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE.

Eur J Paediatr Neurol. 2001;5 Suppl A:21-7.

PMID:
11589000
9.

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

Wheeler RB, Sharp JD, Mitchell WA, Bate SL, Williams RE, Lake BD, Gardiner RM.

Mol Genet Metab. 1999 Apr;66(4):337-8.

PMID:
10191125
10.

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

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.

Hum Mol Genet. 2010 Nov 15;19(22):4497-514. doi: 10.1093/hmg/ddq381. Epub 2010 Sep 7.

11.

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.

Damme M, Brandenstein L, Fehr S, Jankowiak W, Bartsch U, Schweizer M, Hermans-Borgmeyer I, Storch S.

Neurobiol Dis. 2014 May;65:12-24. doi: 10.1016/j.nbd.2014.01.003. Epub 2014 Jan 11.

PMID:
24423645
12.

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. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5.

PMID:
19201763
13.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Oct 10 [updated 2013 Aug 1].

14.

Dystonia Overview.

Klein C, Marras C, Münchau A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Oct 28 [updated 2014 May 1].

15.

Integral and associated lysosomal membrane proteins.

Schröder B, Wrocklage C, Pan C, Jäger R, Kösters B, Schäfer H, Elsässer HP, Mann M, Hasilik A.

Traffic. 2007 Dec;8(12):1676-86. Epub 2007 Sep 26.

16.

Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T.

DNA Res. 2005;12(2):117-26.

PMID:
16303743
17.

Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.

Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW.

Nat Biotechnol. 2004 Jun;22(6):707-16. Epub 2004 May 16.

PMID:
15146197
18.

Toward a confocal subcellular atlas of the human proteome.

Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, Asplund A, Pontén F, Brismar H, Uhlén M, Andersson-Svahn H.

Mol Cell Proteomics. 2008 Mar;7(3):499-508. Epub 2007 Nov 19.

19.

Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.

Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S.

Genome Res. 2006 Jan;16(1):55-65. Epub 2005 Dec 12.

20.

The BioPlex Network: A Systematic Exploration of the Human Interactome.

Huttlin EL, Ting L, Bruckner RJ, Gebreab F, Gygi MP, Szpyt J, Tam S, Zarraga G, Colby G, Baltier K, Dong R, Guarani V, Vaites LP, Ordureau A, Rad R, Erickson BK, Wühr M, Chick J, Zhai B, Kolippakkam D, Mintseris J, Obar RA, Harris T, Artavanis-Tsakonas S, Sowa ME, De Camilli P, Paulo JA, Harper JW, Gygi SP.

Cell. 2015 Jul 16;162(2):425-40. doi: 10.1016/j.cell.2015.06.043.

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