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Page 1
Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples.
Saarela D, Lis P, Gomes S, Nirujogi RS, Dong W, Rawat ES, Glendinning S, Zeneviciute K, Bagnoli E, Fasimoye R, Lin C, Nyame K, Boros FA, Zunke F, Lamoliatte F, Elshani S, Jaconelli M, Jans JJ, Huisman MA, Posern C, Westermann LM, Schulz A, van Hasselt PM, Alessi DR, Abu-Remaileh M, Sammler EM. Saarela D, et al. Among authors: jans jj. J Clin Invest. 2024 Dec 26:e183592. doi: 10.1172/JCI183592. Online ahead of print. J Clin Invest. 2024. PMID: 39724071 Free article.
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.
Kok G, Schene IF, Ilcken EF, Alcaraz PS, Mendes MI, Smith DEC, Salomons G, Shehata S, Jans JJM, Maroofian R, Hoek TA, van Es RM, Rehmann H, Nieuwenhuis EES, Vos HR, Fuchs SA. Kok G, et al. Among authors: jans jjm. Nucleic Acids Res. 2024 Dec 9:gkae1184. doi: 10.1093/nar/gkae1184. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39657787
mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes.
Zwakenberg S, Westland D, van Es RM, Rehmann H, Anink J, Ciapaite J, Bosma M, Stelloo E, Liv N, Sobrevals Alcaraz P, Verhoeven-Duif NM, Jans JJM, Vos HR, Aronica E, Zwartkruis FJT. Zwakenberg S, et al. Among authors: jans jjm. Mol Cell. 2024 Nov 21;84(22):4368-4384.e6. doi: 10.1016/j.molcel.2024.10.009. Epub 2024 Oct 31. Mol Cell. 2024. PMID: 39486419 Free article.
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, Robinson PN, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B. van Karnebeek CDM, et al. Among authors: jans jjm. Orphanet J Rare Dis. 2024 Sep 27;19(1):357. doi: 10.1186/s13023-024-03361-0. Orphanet J Rare Dis. 2024. PMID: 39334316 Free PMC article. Review.
Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease.
van Dijk MJ, Ruiter TJJ, van der Veen S, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Schutgens REG, van Solinge WW, Jans JJM, van Beers EJ, van Wijk R. van Dijk MJ, et al. Among authors: jans jjm. Hemasphere. 2024 Jun 25;8(6):e109. doi: 10.1002/hem3.109. eCollection 2024 Jun. Hemasphere. 2024. PMID: 38919958 Free PMC article.
Metabolic Alterations in NADSYN1-Deficient Cells.
Meijer NWF, Gerrits J, Zwakenberg S, Zwartkruis FJT, Verhoeven-Duif NM, Jans JJM. Meijer NWF, et al. Among authors: jans jjm. Metabolites. 2023 Dec 12;13(12):1196. doi: 10.3390/metabo13121196. Metabolites. 2023. PMID: 38132878 Free PMC article.
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Willems AP, van der Ham M, Schiebergen-Bronkhorst BGM, van Aalderen M, de Barse MMJ, De Gruyter FE, van Hoek IN, Pras-Raves ML, de Sain-van der Velden MGM, Prinsen HCMT, Verhoeven-Duif NM, Jans JJM. Willems AP, et al. Among authors: jans jjm. Front Mol Biosci. 2023 Nov 2;10:1283083. doi: 10.3389/fmolb.2023.1283083. eCollection 2023. Front Mol Biosci. 2023. PMID: 38028537 Free PMC article.
76 results