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Similar articles for PubMed (Select 15160397)

1.

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

Lonka L, Salonen T, Siintola E, Kopra O, Lehesjoki AE, Jalanko A.

J Neurosci Res. 2004 Jun 15;76(6):862-71.

PMID:
15160397
2.

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

Lonka L, Kyttälä A, Ranta S, Jalanko A, Lehesjoki AE.

Hum Mol Genet. 2000 Jul 1;9(11):1691-7.

3.
4.

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE.

Nat Genet. 1999 Oct;23(2):233-6.

PMID:
10508524
5.

Different early ER-stress responses in the CLN8(mnd) mouse model of neuronal ceroid lipofuscinosis.

Galizzi G, Russo D, Deidda I, Cascio C, Passantino R, Guarneri R, Bigini P, Mennini T, Drago G, Guarneri P.

Neurosci Lett. 2011 Jan 25;488(3):258-62. doi: 10.1016/j.neulet.2010.11.041. Epub 2010 Nov 19.

PMID:
21094208
6.

Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis.

Kolikova J, Afzalov R, Surin A, Lehesjoki AE, Khiroug L.

Cell Calcium. 2011 Dec;50(6):491-501. doi: 10.1016/j.ceca.2011.08.004. Epub 2011 Sep 13.

PMID:
21917311
7.

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.

Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF.

Exp Cell Res. 2004 Aug 15;298(2):399-406.

PMID:
15265688
8.

Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis.

Passantino R, Cascio C, Deidda I, Galizzi G, Russo D, Spedale G, Guarneri P.

Biochim Biophys Acta. 2013 Mar;1833(3):529-40. doi: 10.1016/j.bbamcr.2012.10.030. Epub 2012 Nov 8.

9.

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE.

Hum Mutat. 2004 Apr;23(4):300-5.

PMID:
15024724
10.

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT.

Hum Mutat. 2009 Jul;30(7):1104-16. doi: 10.1002/humu.21012.

PMID:
19431184
11.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A.

Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010.

PMID:
19309691
12.

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R.

Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5.

PMID:
19807737
13.

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM.

Neurogenetics. 2006 May;7(2):111-7. Epub 2006 Mar 29.

PMID:
16570191
14.

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.

Lyly A, von Schantz C, Heine C, Schmiedt ML, Sipilä T, Jalanko A, Kyttälä A.

BMC Cell Biol. 2009 Nov 26;10:83. doi: 10.1186/1471-2121-10-83.

15.

Northern epilepsy, a new member of the NCL family.

Ranta S, Lehesjoki AE.

Neurol Sci. 2000;21(3 Suppl):S43-7. Review.

PMID:
11073227
17.

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE.

Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PMID:
21990111
18.

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
19.

CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.

Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM.

Pediatr Res. 2008 Jun;63(6):625-31. doi: 10.1203/PDR.0b013e31816fdc17.

PMID:
18317235
20.

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.

Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O'Brien DP, Katz ML.

Mol Genet Metab. 2014 Aug;112(4):302-9. doi: 10.1016/j.ymgme.2014.05.014. Epub 2014 Jun 4.

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