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Results: 5

1.

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice.

Blom T, Schmiedt ML, Wong AM, Kyttälä A, Soronen J, Jauhiainen M, Tyynelä J, Cooper JD, Jalanko A.

Dis Model Mech. 2013 Mar;6(2):342-57. doi: 10.1242/dmm.010140. Epub 2012 Oct 12.

PMID:
23065637
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism.

Schmiedt ML, Blom T, Blom T, Kopra O, Wong A, von Schantz-Fant C, Ikonen E, Kuronen M, Jauhiainen M, Cooper JD, Jalanko A.

Neurobiol Dis. 2012 Apr;46(1):19-29. doi: 10.1016/j.nbd.2011.12.009. Epub 2011 Dec 13.

PMID:
22182690
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
19941651
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]

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