Inhibition of furin by polyarginine-containing peptides: nanomolar inhibition by nona-D-arginine MM Kacprzak, JR Peinado, ME Than, J Appel, S Henrich, G Lipkind, ... Journal of Biological Chemistry 279 (35), 36788-36794, 2004 | 148 | 2004 |
Use of HIV as a gene transfer vector K Pluta, MM Kacprzak Acta Biochim Pol 56 (4), 531-95, 2009 | 120 | 2009 |
Complete genome sequence of Gluconacetobacter xylinus E25 strain—valuable and effective producer of bacterial nanocellulose K Kubiak, M Kurzawa, M Jędrzejczak-Krzepkowska, K Ludwicka, ... Journal of Biotechnology 176, 18-19, 2014 | 69 | 2014 |
Transcriptional regulation of methionine synthase by homocysteine and choline in Aspergillus nidulans MM Kacprzak, I Lewandowska, RG Matthews, A Paszewski Biochemical Journal 376 (2), 517-524, 2003 | 50 | 2003 |
Cross-inhibition between furin and lethal factor inhibitors JR Peinado, MM Kacprzak, SH Leppla, I Lindberg Biochemical and biophysical research communications 321 (3), 601-605, 2004 | 39 | 2004 |
Specific induction and carbon/nitrogen repression of arginine catabolism gene of Aspergillus nidulans—functional in vivo analysis of the otaA promoter A Dzikowska, M Kacprzak, R Tomecki, M Koper, C Scazzocchio, ... Fungal Genetics and Biology 38 (2), 175-186, 2003 | 37 | 2003 |
Novel mutations reveal two important regions in Aspergillus nidulans transcriptional activator MetR J Brzywczy, MM Kacprzak, A Paszewski Fungal Genetics and Biology 48 (2), 104-112, 2011 | 13 | 2011 |
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia A Repczynska, K Julga, J Skalska-Sadowska, MM Kacprzak, ... Orphanet Journal of Rare Diseases 17 (1), 282, 2022 | 8 | 2022 |
Processing and trafficking of a prohormone convertase 2 active site mutant SN Lee, MM Kacprzak, R Day, I Lindberg Biochemical and biophysical research communications 355 (3), 825-829, 2007 | 8 | 2007 |
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with … J Zegarska, E Wiesik-Szewczyk, E Hryniewiecka, B Wolska-Kusnierz, ... Journal of Clinical Medicine 10 (3), 465, 2021 | 7 | 2021 |
Mutations of the PC2 substrate binding pocket alter enzyme specificity MM Kacprzak, ME Than, L Juliano, MA Juliano, W Bode, I Lindberg Journal of Biological Chemistry 280 (36), 31850-31858, 2005 | 7 | 2005 |
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation N Dabrowska-Leonik, AK Pastorczak, K Bąbol-Pokora, K Bernat-Sitarz, ... Frontiers in immunology 13, 1033338, 2022 | 4 | 2022 |
Case Report: Two Newly Diagnosed Patients With KBG Syndrome—Two Different Molecular Changes K Wojciechowska, J Nurzyńska-Flak, B Styka, M Kacprzak, M Lejman Frontiers in Pediatrics 9, 649043, 2021 | 3 | 2021 |
A new family with spastic paraplegia type 51 and novel mutations in AP4E1 I Winkler, P Miotła, M Lejman, A Pietrzyk, M Kacprzak, M Kubiak, ... BMC Medical Genomics 14 (1), 131, 2021 | 3 | 2021 |
Ultra-rare causes of growth and speech development delay-new cases of Alazami syndrome and Rauh-Steindl syndrome K Polatynska, T Kaluzewski, M Kacprzak, O Drgas, M Piotrowicz, A Gach, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 177-178, 2024 | | 2024 |
Patient with the Tatton-Brown-Rahman syndrome< de novo constitutive DNMT3A variant I Jaszczuk, I Winkler, A Sobczynska-Tomaszewska, M Lejman, A Pietrzyk, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 869-869, 2020 | | 2020 |
A new family with spastic paraplegia type 51 and novel mutations in AP4E1 I Winkler, P Miotla, M Lejman, A Pietrzyk, M Kacprzak, M Kubiak, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 573-574, 2020 | | 2020 |
New heterozygous pathogenic variant in ABCC9 gene identified in two patients diagnosed with Cantu syndrome K Wojciechowska, A Tarkowska, M Kacprzak, D Loska, A Pietrzyk, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 907-907, 2020 | | 2020 |
Detection of a homozygous deletion of ASCC1 gene by NGS in a patient with arthrogryposis and generalized hypotonia A Pietrzyk, M Kacprzak, D Loska, A Kruczek, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1868-1868, 2019 | | 2019 |
Perinatal death associated with mutations in ATAD3A gene in Polish family-new mitochondrial disease? E Witkowska, A Sobczynska-Tomaszewska, K Czerska, M Kacprzak, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 898-899, 2018 | | 2018 |