Kaczmarek AT - Search Results

1

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.

Kaczmarek AT, Bender D, Gehling T, Kohl JB, Daimagüler HS, Santamaria-Araujo JA, Liebau MC, Koy A, Cirak S, Schwarz G. Kaczmarek AT, et al. J Inherit Metab Dis. 2022 Mar;45(2):169-182. doi: 10.1002/jimd.12454. Epub 2021 Nov 24. J Inherit Metab Dis. 2022. PMID: 34741542 Free article.

2

Reciprocal regulation of sulfite oxidation and nitrite reduction by mitochondrial sulfite oxidase.

Kaczmarek AT, Strampraad MJF, Hagedoorn PL, Schwarz G. Kaczmarek AT, et al. Nitric Oxide. 2019 Aug 1;89:22-31. doi: 10.1016/j.niox.2019.04.004. Epub 2019 Apr 17. Nitric Oxide. 2019. PMID: 31002874

3

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Bender D, Kaczmarek AT, Santamaria-Araujo JA, Stueve B, Waltz S, Bartsch D, Kurian L, Cirak S, Schwarz G. Bender D, et al. Among authors: kaczmarek at. Hum Mol Genet. 2019 Sep 1;28(17):2885-2899. doi: 10.1093/hmg/ddz109. Hum Mol Genet. 2019. PMID: 31127934

4

Oxygen and nitrite reduction by heme-deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency.

Bender D, Kaczmarek AT, Kuester S, Burlina AB, Schwarz G. Bender D, et al. Among authors: kaczmarek at. J Inherit Metab Dis. 2020 Jul;43(4):748-757. doi: 10.1002/jimd.12216. Epub 2020 Jan 27. J Inherit Metab Dis. 2020. PMID: 31950508

5

The role of glutamate oxaloacetate transaminases in sulfite biosynthesis and H₂S metabolism.

Mellis AT, Misko AL, Arjune S, Liang Y, Erdélyi K, Ditrói T, Kaczmarek AT, Nagy P, Schwarz G. Mellis AT, et al. Among authors: kaczmarek at. Redox Biol. 2021 Jan;38:101800. doi: 10.1016/j.redox.2020.101800. Epub 2020 Nov 24. Redox Biol. 2021. PMID: 33271457 Free PMC article.

6

Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.

Kaczmarek AT, Bahlmann N, Thaqi B, May P, Schwarz G. Kaczmarek AT, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):188-194. doi: 10.1016/j.ymgme.2021.07.011. Epub 2021 Aug 8. Mol Genet Metab. 2021. PMID: 34420858

7

Molecular mechanism of intramolecular electron transfer in dimeric sulfite oxidase.

Eh M, Kaczmarek AT, Schwarz G, Bender D. Eh M, et al. Among authors: kaczmarek at. J Biol Chem. 2022 Mar;298(3):101668. doi: 10.1016/j.jbc.2022.101668. Epub 2022 Feb 2. J Biol Chem. 2022. PMID: 35120924 Free PMC article.

8

ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway.

Veronese M, Kallabis S, Kaczmarek AT, Das A, Robers L, Schumacher S, Lofrano A, Brodesser S, Müller S, Hofmann K, Krüger M, Rugarli EI. Veronese M, et al. Among authors: kaczmarek at. Life Sci Alliance. 2024 May 23;7(8):e202402620. doi: 10.26508/lsa.202402620. Print 2024 Aug. Life Sci Alliance. 2024. PMID: 38782601 Free PMC article.

9

A pH-Sensitive Double Chromophore Fluorescent Dye for Live-Tracking of Lipophagy.

Engelhardt PM, Veronese M, Eryiğit AA, Das A, Kaczmarek AT, Rugarli EI, Schmalz HG. Engelhardt PM, et al. Among authors: kaczmarek at. Chemistry. 2024 May 28;30(30):e202400808. doi: 10.1002/chem.202400808. Epub 2024 Apr 22. Chemistry. 2024. PMID: 38506349

10

Validation study of urinary metabolites as potential biomarkers for prostate cancer detection.

Gamagedara S, Kaczmarek AT, Jiang Y, Cheng X, Rupasinghe M, Ma Y. Gamagedara S, et al. Among authors: kaczmarek at. Bioanalysis. 2012 Jun;4(10):1175-83. doi: 10.4155/bio.12.92. Bioanalysis. 2012. PMID: 22651561

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