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Timo Otonkoski

Explore the profile of Timo Otonkoski including associated specialties, affiliations and a list of published articles. Areas
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Articles 133
Citations 5154
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Recent Articles
1.
Montaser H, Leppanen S, Vahakangas E, Back N, Grace A, Eurola S, et al.
Diabetes . 2024 Oct; PMID: 39441964
Immediate early response 3 interacting-protein 1 (IER3IP1) is an endoplasmic reticulum resident protein, highly expressed in pancreatic cells and the developing brain cortex. Homozygous mutations in IER3IP1 have been found...
2.
Lithovius V, Lahdenpohja S, Ibrahim H, Saarimaki-Vire J, Uusitalo L, Montaser H, et al.
Diabetologia . 2024 Jun; 67(9):1912-1929. PMID: 38871836
Aims/hypothesis: Stem cell-derived islets (SC-islets) are being used as cell replacement therapy for insulin-dependent diabetes. Non-invasive long-term monitoring methods for SC-islet grafts, which are needed to detect misguided differentiation in...
3.
Sartori-Maldonado R, Montaser H, Soppa I, Eurola S, Juutila J, Balaz M, et al.
Mol Ther . 2024 Jun; 32(8):2535-2548. PMID: 38867450
Stem and progenitor cells hold great promise for regenerative medicine and gene therapy approaches. However, transplantation of living cells entails a fundamental risk of unwanted growth, potentially exacerbated by CRISPR-Cas9...
4.
Pulli K, Saarimaki-Vire J, Ahonen P, Liu X, Ibrahim H, Chandra V, et al.
JCI Insight . 2024 May; 9(10). PMID: 38775154
MAPK activating death domain (MADD) is a multifunctional protein regulating small GTPases RAB3 and RAB27, MAPK signaling, and cell survival. Polymorphisms in the MADD locus are associated with glycemic traits,...
5.
Ibrahim H, Balboa D, Saarimaki-Vire J, Montaser H, Dyachok O, Lund P, et al.
Diabetologia . 2024 May; 67(8):1642-1662. PMID: 38743124
Aims/hypothesis: Regulatory factor X 6 (RFX6) is crucial for pancreatic endocrine development and differentiation. The RFX6 variant p.His293LeufsTer7 is significantly enriched in the Finnish population, with almost 1:250 individuals as...
6.
Thorngren J, Brboric A, Vasylovska S, Hjelmqvist D, Westermark G, Saarimaki-Vire J, et al.
Diabetes . 2024 Apr; 73(7):1127-1139. PMID: 38603470
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7.
Jalil S, Keskinen T, Juutila J, Sartori Maldonado R, Euro L, Suomalainen A, et al.
Am J Hum Genet . 2024 Apr; 111(4):714-728. PMID: 38579669
Argininosuccinate lyase deficiency (ASLD) is a recessive metabolic disorder caused by variants in ASL. In an essential step in urea synthesis, ASL breaks down argininosuccinate (ASA), a pathognomonic ASLD biomarker....
8.
Arunagiri A, Alam M, Haataja L, Draz H, Alasad B, Samy P, et al.
Protein Sci . 2024 Mar; 33(4):e4949. PMID: 38511500
Primary defects in folding of mutant proinsulin can cause dominant-negative proinsulin accumulation in the endoplasmic reticulum (ER), impaired anterograde proinsulin trafficking, perturbed ER homeostasis, diminished insulin production, and β-cell dysfunction....
9.
De Franco E, Owens N, Montaser H, Wakeling M, Saarimaki-Vire J, Triantou A, et al.
Nat Genet . 2023 Nov; 55(12):2075-2081. PMID: 37973953
Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function variants...
10.
Barsby T, Vahakangas E, Ustinov J, Montaser H, Ibrahim H, Lithovius V, et al.
Cell Rep . 2023 Aug; 42(8):112970. PMID: 37556323
Pancreatic islets regulate blood glucose homeostasis through the controlled release of insulin; however, current metabolic models of glucose-sensitive insulin secretion are incomplete. A comprehensive understanding of islet metabolism is integral...