[HTML][HTML] Genetic diagnosis of Mendelian disorders via RNA sequencing
… All data and R scripts needed to reproduce paper figures are available online at our
webserver (https://i12g-gagneurweb.in.tum.de/public/paper/mitoMultiOmics). Additional data are …
webserver (https://i12g-gagneurweb.in.tum.de/public/paper/mitoMultiOmics). Additional data are …
The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics
SL Stenton, LS Kremer, R Kopajtich… - Journal of inherited …, 2020 - Wiley Online Library
Given the rapidly decreasing cost and increasing speed and accessibility of massively parallel
technologies, the integration of comprehensive genomic, transcriptomic, and proteomic …
technologies, the integration of comprehensive genomic, transcriptomic, and proteomic …
Phosphorylation of mitotic kinesin-like protein 2 by polo-like kinase 1 is required for cytokinesis
R Neef, C Preisinger, J Sutcliffe, R Kopajtich… - The Journal of cell …, 2003 - rupress.org
We have investigated the function of mitotic kinesin-like protein (MKlp) 2, a kinesin localized
to the central spindle, and demonstrate that its depletion results in a failure of cleavage …
to the central spindle, and demonstrate that its depletion results in a failure of cleavage …
Choice of Plk1 docking partners during mitosis and cytokinesis is controlled by the activation state of Cdk1
… We thank R. Körner for help with protein identification and phosphorylation site mapping
by mass spectrometry. The Max-Planck Society supports research in the groups of FAB and …
by mass spectrometry. The Max-Planck Society supports research in the groups of FAB and …
YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3ζ
…, V De Corte, E Bruyneel, A Haas, R Kopajtich… - The Journal of cell …, 2004 - rupress.org
The Golgi apparatus has long been suggested to be important for directing secretion to
specific sites on the plasma membrane in response to extracellular signaling events. However, …
specific sites on the plasma membrane in response to extracellular signaling events. However, …
A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic
B Short, C Preisinger, R Körner, R Kopajtich… - The Journal of cell …, 2001 - rupress.org
Membrane traffic between the endoplasmic reticulum (ER) and Golgi apparatus and through
the Golgi apparatus is a highly regulated process controlled by members of the rab GTPase …
the Golgi apparatus is a highly regulated process controlled by members of the rab GTPase …
[HTML][HTML] Clinical implementation of RNA sequencing for Mendelian disease diagnostics
… We used the summarizeOverlaps function from the GenomicAlignments [40] R package to
count reads that are paired with mates from the opposite strands (singleEnd = FALSE). We …
count reads that are paired with mates from the opposite strands (singleEnd = FALSE). We …
A GTPase-activating protein controls Rab5 function in endocytic trafficking
AK Haas, E Fuchs, R Kopajtich, FA Barr - Nature cell biology, 2005 - nature.com
… Note that EEA1 runs at a relative molecular mass of 175,000 (M r 175 K), whereas LAMP1
is a smeared band in the region of M r 83 K; (b) fixed and then stained with antibodies to EEA1…
is a smeared band in the region of M r 83 K; (b) fixed and then stained with antibodies to EEA1…
[PDF][PDF] The Rab6 GTPase regulates recruitment of the dynactin complex to Golgi membranes
B Short, C Preisinger, J Schaletzky, R Kopajtich… - Current Biology, 2002 - cell.com
Dynactin is a multisubunit protein complex required for the activity of dynein in diverse
intracellular motility processes, including membrane transport [1–3]. Dynactin can bind to vesicles …
intracellular motility processes, including membrane transport [1–3]. Dynactin can bind to vesicles …
[HTML][HTML] Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
…, E Javasky, J Kaplan, R Kopajtich… - The Journal of …, 2021 - Am Soc Clin Investig
Leber’s hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …