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Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Woldegebriel R, Kvist J, Andersson N, Õunap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard MH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bönnemann CG, Maroofian R, O'Connor E, Houlden H, Zhao F, Carpén O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H. Woldegebriel R, et al. Among authors: kvist j. Hum Mol Genet. 2020 Jun 3;29(9):1426-1439. doi: 10.1093/hmg/ddaa051. Hum Mol Genet. 2020. PMID: 32202298 Free PMC article.
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons.
Harjuhaahto S, Rasila TS, Molchanova SM, Woldegebriel R, Kvist J, Konovalova S, Sainio MT, Pennonen J, Torregrosa-Muñumer R, Ibrahim H, Otonkoski T, Taira T, Ylikallio E, Tyynismaa H. Harjuhaahto S, et al. Among authors: kvist j. Neurobiol Dis. 2020 Jul;141:104940. doi: 10.1016/j.nbd.2020.104940. Epub 2020 May 11. Neurobiol Dis. 2020. PMID: 32437855 Free article.
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Rönkkö J, Molchanova S, Revah-Politi A, Pereira EM, Auranen M, Toppila J, Kvist J, Ludwig A, Neumann J, Bultynck G, Humblet-Baron S, Liston A, Paetau A, Rivera C, Harms MB, Tyynismaa H, Ylikallio E. Rönkkö J, et al. Among authors: kvist j. Ann Clin Transl Neurol. 2020 Oct;7(10):1962-1972. doi: 10.1002/acn3.51190. Epub 2020 Sep 19. Ann Clin Transl Neurol. 2020. PMID: 32949214 Free PMC article.
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
Kenvin S, Torregrosa-Muñumer R, Reidelbach M, Pennonen J, Turkia JJ, Rannila E, Kvist J, Sainio MT, Huber N, Herukka SK, Haapasalo A, Auranen M, Trokovic R, Sharma V, Ylikallio E, Tyynismaa H. Kenvin S, et al. Among authors: kvist j. Hum Mol Genet. 2022 Mar 21;31(6):958-974. doi: 10.1093/hmg/ddab299. Hum Mol Genet. 2022. PMID: 34635923 Free PMC article.
Functional, metabolic and transcriptional maturation of human pancreatic islets derived from stem cells.
Balboa D, Barsby T, Lithovius V, Saarimäki-Vire J, Omar-Hmeadi M, Dyachok O, Montaser H, Lund PE, Yang M, Ibrahim H, Näätänen A, Chandra V, Vihinen H, Jokitalo E, Kvist J, Ustinov J, Nieminen AI, Kuuluvainen E, Hietakangas V, Katajisto P, Lau J, Carlsson PO, Barg S, Tengholm A, Otonkoski T. Balboa D, et al. Among authors: kvist j. Nat Biotechnol. 2022 Jul;40(7):1042-1055. doi: 10.1038/s41587-022-01219-z. Epub 2022 Mar 3. Nat Biotechnol. 2022. PMID: 35241836 Free PMC article.
Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure.
Konovalova S, Torregrosa-Muñumer R, Manjunath P, Liu X, Baral S, Fatima K, Holopainen M, Kvist J, Rajendran J, Yang Y, Varjosalo M, Käkelä R, Somerharju P, Tyynismaa H. Konovalova S, et al. Among authors: kvist j. Proc Natl Acad Sci U S A. 2023 Jul 25;120(30):e2210599120. doi: 10.1073/pnas.2210599120. Epub 2023 Jul 18. Proc Natl Acad Sci U S A. 2023. PMID: 37463214 Free PMC article.
The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α.
Chandra V, Ibrahim H, Halliez C, Prasad RB, Vecchio F, Dwivedi OP, Kvist J, Balboa D, Saarimäki-Vire J, Montaser H, Barsby T, Lithovius V, Artner I, Gopalakrishnan S, Groop L, Mallone R, Eizirik DL, Otonkoski T. Chandra V, et al. Among authors: kvist j. Nat Commun. 2022 Oct 26;13(1):6363. doi: 10.1038/s41467-022-34069-z. Nat Commun. 2022. PMID: 36289205 Free PMC article.
140 results