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Items: 1 to 50 of 102

1.

Roadmap for a precision-medicine initiative in the Nordic region.

Njølstad PR, Andreassen OA, Brunak S, Børglum AD, Dillner J, Esko T, Franks PW, Freimer N, Groop L, Heimer H, Hougaard DM, Hovig E, Hveem K, Jalanko A, Kaprio J, Knudsen GP, Melbye M, Metspalu A, Mortensen PB, Palmgren J, Palotie A, Reed W, Stefánsson H, Stitziel NO, Sullivan PF, Thorsteinsdóttir U, Vaudel M, Vuorio E, Werge T, Stoltenberg C, Stefánsson K.

Nat Genet. 2019 Jun;51(6):924-930. doi: 10.1038/s41588-019-0391-1. No abstract available.

PMID:
30988515
2.

Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.

Uusi-Rauva K, Blom T, von Schantz-Fant C, Blom T, Jalanko A, Kyttälä A.

Int J Mol Sci. 2017 May 1;18(5). pii: E955. doi: 10.3390/ijms18050955.

3.

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism.

Kettunen KM, Karikoski R, Hämäläinen RH, Toivonen TT, Antonenkov VD, Kulesskaya N, Voikar V, Hölttä-Vuori M, Ikonen E, Sainio K, Jalanko A, Karlberg S, Karlberg N, Lipsanen-Nyman M, Toppari J, Jauhiainen M, Hiltunen JK, Jalanko H, Lehesjoki AE.

Biol Open. 2016 May 15;5(5):584-95. doi: 10.1242/bio.016246.

4.

USF1 deficiency activates brown adipose tissue and improves cardiometabolic health.

Laurila PP, Soronen J, Kooijman S, Forsström S, Boon MR, Surakka I, Kaiharju E, Coomans CP, Van Den Berg SA, Autio A, Sarin AP, Kettunen J, Tikkanen E, Manninen T, Metso J, Silvennoinen R, Merikanto K, Ruuth M, Perttilä J, Mäkelä A, Isomi A, Tuomainen AM, Tikka A, Ramadan UA, Seppälä I, Lehtimäki T, Eriksson J, Havulinna A, Jula A, Karhunen PJ, Salomaa V, Perola M, Ehnholm C, Lee-Rueckert M, Van Eck M, Roivainen A, Taskinen MR, Peltonen L, Mervaala E, Jalanko A, Hohtola E, Olkkonen VM, Ripatti S, Kovanen PT, Rensen PC, Suomalainen A, Jauhiainen M.

Sci Transl Med. 2016 Jan 27;8(323):323ra13. doi: 10.1126/scitranslmed.aad0015.

PMID:
26819196
5.

Genetic Variability Overrides the Impact of Parental Cell Type and Determines iPSC Differentiation Potential.

Kyttälä A, Moraghebi R, Valensisi C, Kettunen J, Andrus C, Pasumarthy KK, Nakanishi M, Nishimura K, Ohtaka M, Weltner J, Van Handel B, Parkkonen O, Sinisalo J, Jalanko A, Hawkins RD, Woods NB, Otonkoski T, Trokovic R.

Stem Cell Reports. 2016 Feb 9;6(2):200-12. doi: 10.1016/j.stemcr.2015.12.009. Epub 2016 Jan 14.

6.

Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.

Tikka S, Monogioudi E, Gotsopoulos A, Soliymani R, Pezzini F, Scifo E, Uusi-Rauva K, Tyynelä J, Baumann M, Jalanko A, Simonati A, Lalowski M.

Neuromolecular Med. 2016 Mar;18(1):109-33. doi: 10.1007/s12017-015-8382-6. Epub 2015 Dec 26.

PMID:
26707855
7.

Quantitative analysis of PPT1 interactome in human neuroblastoma cells.

Scifo E, Szwajda A, Soliymani R, Pezzini F, Bianchi M, Dapkunas A, Dębski J, Uusi-Rauva K, Dadlez M, Gingras AC, Tyynelä J, Simonati A, Jalanko A, Baumann MH, Lalowski M.

Data Brief. 2015 Jun 12;4:207-16. doi: 10.1016/j.dib.2015.05.016. eCollection 2015 Sep.

8.

Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells.

Scifo E, Szwajda A, Soliymani R, Pezzini F, Bianchi M, Dapkunas A, Dębski J, Uusi-Rauva K, Dadlez M, Gingras AC, Tyynelä J, Simonati A, Jalanko A, Baumann MH, Lalowski M.

J Proteomics. 2015 Jun 18;123:42-53. doi: 10.1016/j.jprot.2015.03.038. Epub 2015 Apr 10.

PMID:
25865307
9.

Advanced feeder-free generation of induced pluripotent stem cells directly from blood cells.

Trokovic R, Weltner J, Nishimura K, Ohtaka M, Nakanishi M, Salomaa V, Jalanko A, Otonkoski T, Kyttälä A.

Stem Cells Transl Med. 2014 Dec;3(12):1402-9. doi: 10.5966/sctm.2014-0113. Epub 2014 Oct 29.

10.

Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses?

Grubman A, Pollari E, Duncan C, Caragounis A, Blom T, Volitakis I, Wong A, Cooper J, Crouch PJ, Koistinaho J, Jalanko A, White AR, Kanninen KM.

Metallomics. 2014 Apr;6(4):932-43.

PMID:
24804307
11.

Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach.

Scifo E, Szwajda A, Dębski J, Uusi-Rauva K, Kesti T, Dadlez M, Gingras AC, Tyynelä J, Baumann MH, Jalanko A, Lalowski M.

J Proteome Res. 2013 May 3;12(5):2101-15. doi: 10.1021/pr301125k. Epub 2013 Apr 19. Erratum in: J Proteome Res. 2013 Aug 2;12(8):3822.

PMID:
23464991
12.

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins.

Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T.

Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. Epub 2013 Feb 9. Review.

13.

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.

14.

Native and Complexed IGF-1: Biodistribution and Pharmacokinetics in Infantile Neuronal Ceroid Lipofuscinosis.

Huhtala T, Rytkönen J, Jalanko A, Kaasalainen M, Salonen J, Riikonen R, Närvänen A.

J Drug Deliv. 2012;2012:626417. doi: 10.1155/2012/626417. Epub 2012 Jun 15.

15.

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice.

Kuronen M, Lehesjoki AE, Jalanko A, Cooper JD, Kopra O.

Neurobiol Dis. 2012 Sep;47(3):444-57. doi: 10.1016/j.nbd.2012.04.018. Epub 2012 May 5.

PMID:
22569358
16.

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

Uusi-Rauva K, Kyttälä A, van der Kant R, Vesa J, Tanhuanpää K, Neefjes J, Olkkonen VM, Jalanko A.

Cell Mol Life Sci. 2012 Jun;69(12):2075-89. doi: 10.1007/s00018-011-0913-1. Epub 2012 Jan 20.

PMID:
22261744
17.

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
18.

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.

19.

Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression.

Raitila A, Lehtonen HJ, Arola J, Heliövaara E, Ahlsten M, Georgitsi M, Jalanko A, Paetau A, Aaltonen LA, Karhu A.

Am J Pathol. 2010 Oct;177(4):1969-76. doi: 10.2353/ajpath.2010.100138. Epub 2010 Aug 13.

20.

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
21.

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.

22.

Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL.

von Schantz C, Kielar C, Hansen SN, Pontikis CC, Alexander NA, Kopra O, Jalanko A, Cooper JD.

Neurobiol Dis. 2009 May;34(2):308-19.

23.

Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis.

Tardy C, Sabourdy F, Garcia V, Jalanko A, Therville N, Levade T, Andrieu-Abadie N.

Biochim Biophys Acta. 2009 Jul;1793(7):1250-8. doi: 10.1016/j.bbamcr.2009.03.007. Epub 2009 Apr 5.

24.

Neuronal ceroid lipofuscinoses.

Jalanko A, Braulke T.

Biochim Biophys Acta. 2009 Apr;1793(4):697-709. doi: 10.1016/j.bbamcr.2008.11.004. Epub 2008 Nov 24. Review.

25.

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

Uusi-Rauva K, Luiro K, Tanhuanpää K, Kopra O, Martín-Vasallo P, Kyttälä A, Jalanko A.

Exp Cell Res. 2008 Sep 10;314(15):2895-905. doi: 10.1016/j.yexcr.2008.06.016. Epub 2008 Jun 28.

PMID:
18621045
26.

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases.

von Schantz C, Saharinen J, Kopra O, Cooper JD, Gentile M, Hovatta I, Peltonen L, Jalanko A.

BMC Genomics. 2008 Mar 28;9:146. doi: 10.1186/1471-2164-9-146.

27.

Stress-induced expression of a novel variant of human fumarate hydratase (FH).

Lehtonen HJ, Ylisaukko-Oja SK, Kiuru M, Karhu A, Lehtonen R, Vanharanta S, Jalanko A, Aaltonen LA, Launonen V.

Gene Expr. 2007;14(2):59-69.

28.

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.

Lyly A, Marjavaara SK, Kyttälä A, Uusi-Rauva K, Luiro K, Kopra O, Martinez LO, Tanhuanpää K, Kalkkinen N, Suomalainen A, Jauhiainen M, Jalanko A.

Hum Mol Genet. 2008 May 15;17(10):1406-17. doi: 10.1093/hmg/ddn028. Epub 2008 Feb 1.

PMID:
18245779
29.

Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction.

Ahtiainen L, Kolikova J, Mutka AL, Luiro K, Gentile M, Ikonen E, Khiroug L, Jalanko A, Kopra O.

Neurobiol Dis. 2007 Oct;28(1):52-64. Epub 2007 Jun 23.

PMID:
17656100
30.

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.

Lyly A, von Schantz C, Salonen T, Kopra O, Saarela J, Jauhiainen M, Kyttälä A, Jalanko A.

BMC Cell Biol. 2007 Jun 12;8:22.

31.

From genes to systems: new global strategies for the characterization of NCL biology.

Jalanko A, Tyynelä J, Peltonen L.

Biochim Biophys Acta. 2006 Oct;1762(10):934-44. Epub 2006 Sep 12. Review.

32.

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.

Luiro K, Kopra O, Blom T, Gentile M, Mitchison HM, Hovatta I, Törnquist K, Jalanko A.

J Neurosci Res. 2006 Oct;84(5):1124-38.

PMID:
16941499
33.

Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing.

Ahtiainen L, Luiro K, Kauppi M, Tyynelä J, Kopra O, Jalanko A.

Exp Cell Res. 2006 May 15;312(9):1540-53. Epub 2006 Mar 20.

PMID:
16542649
34.
35.

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A.

Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17687-92. Epub 2005 Nov 21.

36.

Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.

Jalanko A, Vesa J, Manninen T, von Schantz C, Minye H, Fabritius AL, Salonen T, Rapola J, Gentile M, Kopra O, Peltonen L.

Neurobiol Dis. 2005 Feb;18(1):226-41.

PMID:
15649713
37.

AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.

Kyttälä A, Yliannala K, Schu P, Jalanko A, Luzio JP.

J Biol Chem. 2005 Mar 18;280(11):10277-83. Epub 2004 Dec 13.

38.

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.

Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley N, Poulton J, Jalanko A, Spelbrink JN, Holt IJ, Suomalainen A.

Hum Mol Genet. 2004 Dec 15;13(24):3219-27. Epub 2004 Oct 27.

PMID:
15509589
39.

Bone marrow transplantation in young aspartylglucosaminuria mice: improved clearance of lysosomal storage in brain by using wild type as compared to heterozygote donors.

Laine M, Ahtiainen L, Rapola J, Richter J, Jalanko A.

Bone Marrow Transplant. 2004 Dec;34(11):1001-3. No abstract available.

PMID:
15489878
40.

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.

Luiro K, Yliannala K, Ahtiainen L, Maunu H, Järvelä I, Kyttälä A, Jalanko A.

Hum Mol Genet. 2004 Dec 1;13(23):3017-27. Epub 2004 Oct 7.

PMID:
15471887
41.

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.

Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A, Peltonen L.

Hum Mol Genet. 2004 Dec 1;13(23):2893-906. Epub 2004 Sep 30.

PMID:
15459177
42.

A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.

Saarela J, von Schantz C, Peltonen L, Jalanko A.

Hum Mutat. 2004 Oct;24(4):350-1.

PMID:
15365992
43.

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.

Holmberg V, Jalanko A, Isosomppi J, Fabritius AL, Peltonen L, Kopra O.

Neurobiol Dis. 2004 Jun;16(1):29-40.

PMID:
15207259
44.

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
45.

Sialin expression in the CNS implicates extralysosomal function in neurons.

Aula N, Kopra O, Jalanko A, Peltonen L.

Neurobiol Dis. 2004 Mar;15(2):251-61.

PMID:
15006695
46.

Autoproteolytic activation of human aspartylglucosaminidase.

Saarela J, Oinonen C, Jalanko A, Rouvinen J, Peltonen L.

Biochem J. 2004 Mar 1;378(Pt 2):363-71.

48.

Palmitoyl protein thioesterase 1 is targeted to the axons in neurons.

Ahtiainen L, Van Diggelen OP, Jalanko A, Kopra O.

J Comp Neurol. 2003 Jan 13;455(3):368-77.

PMID:
12483688
49.

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.

Aula N, Jalanko A, Aula P, Peltonen L.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):99-107.

PMID:
12359136
50.

Engagement of activin and bone morphogenetic protein signaling pathway Smad proteins in the induction of inhibin B production in ovarian granulosa cells.

Bondestam J, Kaivo-oja N, Kallio J, Groome N, Hydén-Granskog C, Fujii M, Moustakas A, Jalanko A, ten Dijke P, Ritvos O.

Mol Cell Endocrinol. 2002 Sep 30;195(1-2):79-88.

PMID:
12354674

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