Article
Genetics & Heredity
Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati
Summary: Mitochondrial DNA depletion syndromes are characterized by severe infantile-onset progression and the loss of mtDNA content in affected tissues. In this study, we identified severe mtDNA depletion and impaired respiratory chain activity in muscle tissue of a patient with hypotonia, proximal tubulopathy, and sensorineural hearing loss. This was caused by heterozygous variants in the RRM2B gene, which encodes the p53R2 subunit of ribonucleotide reductase.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2022)
Article
Genetics & Heredity
Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati
Summary: Mitochondrial DNA depletion syndromes are characterized by infantile-onset, severe progression, and significant loss of mtDNA content in affected tissues. Variants in the RRM2B gene can lead to severe mtDNA depletion and impaired respiratory chain activity in muscle.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Raffael Schaffrath, Roland Klassen
Article
Multidisciplinary Sciences
Roland Klassen, Raffael Schaffrath
SCIENTIFIC REPORTS
(2018)
Review
Genetics & Heredity
Harmen Hawer, Alexander Hammermeister, Keerthiraju Ethiraju Ravichandran, Sebastian Glatt, Raffael Schaffrath, Roland Klassen
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Genetics & Heredity
Alexander Bruch, Roland Klassen, Raffael Schaffrath
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Biochemistry & Molecular Biology
Leticia Pollo-Oliveira, Roland Klassen, Nick Davis, Akif Ciftci, Jo Marie Bacusmo, Maria Martinelli, Michael S. DeMott, Thomas J. Begley, Peter C. Dedon, Raffael Schaffrath, Valerie de Crecy-Lagard
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Biochemistry & Molecular Biology
Bahar Khonsari, Roland Klassen
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Biochemistry & Molecular Biology
Alexander Bruch, Teresa Laguna, Falk Butter, Raffael Schaffrath, Roland Klassen
NUCLEIC ACIDS RESEARCH
(2020)
Article
Biochemistry & Molecular Biology
Manfred A. Schaeck, Kim Philipp Jablonski, Stefan Graf, Roland Klassen, Raffael Schaffrath, Stefanie Kellner, Christian Hammann
NUCLEIC ACIDS RESEARCH
(2020)
Review
Genetics & Heredity
Roland Klassen, Alexander Bruch, Raffael Schaffrath
Article
Biochemistry & Molecular Biology
Bahar Khonsari, Roland Klassen, Raffael Schaffrath
Summary: The study demonstrates that the SSD1 gene status has a modification-specific impact on phenotypic variation in tRNA modification mutants, rather than a general effect. Different tRNA modification defects in yeast show varied phenotypic differences influenced by the SSD1 allele status, highlighting independent roles of SSD1 and tRNA modifications in cell signaling and integrity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Roland Klassen, Venkat Gangavarapu, Robert E. Johnson, Louise Prakash, Satya Prakash
Summary: DNA mismatch repair (MMR) is important for maintaining genomic stability. This study reveals that MMR may occur in conjunction with the replication fork, rather than post-replicatively. The findings suggest that Pol8, a subunit of DNA polymerase 8, plays a major role in replication of both the leading and lagging DNA strands.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2023)
Article
Biochemistry & Molecular Biology
Gabriel Soares Matos, Leonie Vogt, Rosangela Silva Santos, Aurelien Devillars, Marcos Yukio Yoshinaga, Sayuri Miyamoto, Raffael Schaffrath, Monica Montero-Lomeli, Roland Klassen
Summary: In yeast cells, the absence of a certain enzyme leads to increased lipid droplet content, translational defects, and protein aggregation. This enzyme mutation also causes specific misreading errors, altering the expression of key regulators of lipid synthesis. The reduced phospholipid pool suggests compromised lipid mobilization in the mutant.
MOLECULAR MICROBIOLOGY
(2023)
Article
Multidisciplinary Sciences
Thomas Fuhrmann-Lieker, Nico Kubetschek, Jonas Ziebarth, Roland Klassen, Werner Seiler
Summary: The unique life cycle of diatoms leads to periodic fluctuations in cell size distribution, resembling a multi-annual clock. Generic mathematical models are investigated to understand long-term population behavior, and simulations show that a proposed limited lifetime of cell walls can slow down the relaxation towards equilibrium state. By combining this with seasonal perturbations, the proliferation scheme with limited lifetime can explain long-lasting rhythms in diatom population dynamics.
JOURNAL OF THE ROYAL SOCIETY INTERFACE
(2021)
Article
Biochemistry & Molecular Biology
Bruno Leonardo Bozaquel-Morais, Leonie Vogt, Valentina D'Angelo, Raffael Schaffrath, Roland Klassen, Monica Montero-Lomeli
Article
Biochemistry & Molecular Biology
Roland Klassen, Raffael Schaffrath