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Results: 11

PubMed Links for Protein (Select 5729772)

1.

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

Haddad SE, Khoury M, Daoud M, Kantar R, Harati H, Mousallem T, Alzate O, Meyer B, Boustany RM.

Electrophoresis. 2012 Dec;33(24):3798-809. doi: 10.1002/elps.201200472.

PMID:
23160995
2.

The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting.

Mamo A, Jules F, Dumaresq-Doiron K, Costantino S, Lefrancois S.

Mol Cell Biol. 2012 May;32(10):1855-66. doi: 10.1128/MCB.06726-11. Epub 2012 Mar 19.

3.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2001 Oct 10 [updated 2013 Aug 01].

4.

Dystonia Overview.

Klein C, Marras C, Münchau A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2003 Oct 28 [updated 2014 May 01].

5.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K.

Neurology. 2010 Feb 16;74(7):565-71. doi: 10.1212/WNL.0b013e3181cff70d.

PMID:
20157158
6.

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

Schmiedt ML, Bessa C, Heine C, Ribeiro MG, Jalanko A, Kyttälä A.

Hum Mutat. 2010 Mar;31(3):356-65. doi: 10.1002/humu.21195.

PMID:
20052765
7.

Identification of sites of mannose 6-phosphorylation on lysosomal proteins.

Sleat DE, Zheng H, Qian M, Lobel P.

Mol Cell Proteomics. 2006 Apr;5(4):686-701. Epub 2006 Jan 5.

8.

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L.

Nat Genet. 1998 Jul;19(3):286-8.

PMID:
9662406
9.

Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.

Klockars T, Savukoski M, Isosomppi J, Laan M, Järvelä I, Petrukhin K, Palotie A, Peltonen L.

Genomics. 1996 Jul 1;35(1):71-8.

PMID:
8661106
10.

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

Savukoski M, Kestilä M, Williams R, Järvelä I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L.

Am J Hum Genet. 1994 Oct;55(4):695-701.

11.

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.

Carpenter S, Karpati G, Andermann F, Jacob JC, Andermann E.

Brain. 1977 Mar;100 Pt 1:137-56.

PMID:
193610
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