Lehesjoki AE - Search Results

1

Progressive mitochondrial dysfunction in cerebellar synaptosomes of cystatin B-deficient mice.

Gorski K, Jackson CB, Nyman TA, Rezov V, Battersby BJ, Lehesjoki AE. Gorski K, et al. Among authors: lehesjoki ae. Front Mol Neurosci. 2023 May 12;16:1175851. doi: 10.3389/fnmol.2023.1175851. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37251643 Free PMC article.

2

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.

Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, Kopra O, Joensuu T, Hakala P, Bonni A, Lehesjoki AE. Lehtinen MK, et al. Among authors: lehesjoki ae. J Neurosci. 2009 May 6;29(18):5910-5. doi: 10.1523/JNEUROSCI.0682-09.2009. J Neurosci. 2009. PMID: 19420257 Free PMC article.

3

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anttonen AK, Tyynismaa H, Courage C, Lehesjoki AE. Nevanlinna V, et al. Among authors: lehesjoki ae. Eur J Med Genet. 2020 Mar;63(3):103766. doi: 10.1016/j.ejmg.2019.103766. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536827

4

Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice.

Gorski K, Spoljaric A, Nyman TA, Kaila K, Battersby BJ, Lehesjoki AE. Gorski K, et al. Among authors: lehesjoki ae. Front Mol Neurosci. 2020 Nov 13;13:570640. doi: 10.3389/fnmol.2020.570640. eCollection 2020. Front Mol Neurosci. 2020. PMID: 33281550 Free PMC article.

5

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Courage C, et al. Among authors: lehesjoki ae. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. Am J Hum Genet. 2021. PMID: 33798445 Free PMC article.

6

Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis.

Daura E, Tegelberg S, Yoshihara M, Jackson C, Simonetti F, Aksentjeff K, Ezer S, Hakala P, Katayama S, Kere J, Lehesjoki AE, Joensuu T. Daura E, et al. Among authors: lehesjoki ae. Neurobiol Dis. 2021 Aug;156:105418. doi: 10.1016/j.nbd.2021.105418. Epub 2021 Jun 5. Neurobiol Dis. 2021. PMID: 34102276 Free article.

7

Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity.

Daura E, Tegelberg S, Hakala P, Lehesjoki AE, Joensuu T. Daura E, et al. Among authors: lehesjoki ae. Front Mol Neurosci. 2022 Nov 30;15:1069122. doi: 10.3389/fnmol.2022.1069122. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36533126 Free PMC article.

8

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE. Alakurtti K, et al. Among authors: lehesjoki ae. Eur J Hum Genet. 2005 Feb;13(2):208-15. doi: 10.1038/sj.ejhg.5201300. Eur J Hum Genet. 2005. PMID: 15483648

9

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.

Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE. Joensuu T, et al. Among authors: lehesjoki ae. Eur J Hum Genet. 2007 Feb;15(2):185-93. doi: 10.1038/sj.ejhg.5201723. Epub 2006 Sep 27. Eur J Hum Genet. 2007. PMID: 17003839

10

White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice.

Manninen O, Koskenkorva P, Lehtimäki KK, Hyppönen J, Könönen M, Laitinen T, Kalimo H, Kopra O, Kälviäinen R, Gröhn O, Lehesjoki AE, Vanninen R. Manninen O, et al. Among authors: lehesjoki ae. Radiology. 2013 Oct;269(1):232-9. doi: 10.1148/radiol.13122458. Epub 2013 Jun 20. Radiology. 2013. PMID: 23788720

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