Publications by authors named "Robert Kopajtich"

30Publications

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 07 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.

J Inherit Metab Dis 2020 01 25;43(1):25-35. Epub 2019 Jun 25.

Institute of Human Genetics, Technische Universität München, München, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12130
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http://dx.doi.org/10.1002/jimd.12130DOI Listing
January 2020

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq.

Methods Mol Biol 2017 ;1567:379-390

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.

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http://dx.doi.org/10.1007/978-1-4939-6824-4_23DOI Listing
February 2018

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

Am J Hum Genet 2014 Dec 20;95(6):689-97. Epub 2014 Nov 20.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2014.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259973PMC
December 2014

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Am J Hum Genet 2013 Aug 11;93(2):211-23. Epub 2013 Jul 11.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738821PMC
August 2013

Choice of Plk1 docking partners during mitosis and cytokinesis is controlled by the activation state of Cdk1.

Nat Cell Biol 2007 Apr 11;9(4):436-44. Epub 2007 Mar 11.

Intracellular Protein Transport, Independent Junior Research Group, Max-Planck-Institute of Biochemistry, Martinsried, 82152 Germany.

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http://dx.doi.org/10.1038/ncb1557DOI Listing
April 2007

Cooperation between mitotic kinesins controls the late stages of cytokinesis.

Curr Biol 2006 Feb;16(3):301-7

Intracellular Protein Transport Group, Max-Planck-Institute of Biochemistry, Am Klopferspitz 18, 82152 Martinsried, Germany.

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http://dx.doi.org/10.1016/j.cub.2005.12.030DOI Listing
February 2006

A GTPase-activating protein controls Rab5 function in endocytic trafficking.

Nat Cell Biol 2005 Sep 7;7(9):887-93. Epub 2005 Aug 7.

Max-Planck Institute of Biochemistry, Department of Cell Biology, Am Klopferspitz 18, D-82152 Martinsried, Germany.

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http://www.nature.com/articles/ncb1290
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http://dx.doi.org/10.1038/ncb1290DOI Listing
September 2005

Plk1 docking to GRASP65 phosphorylated by Cdk1 suggests a mechanism for Golgi checkpoint signalling.

EMBO J 2005 Feb 27;24(4):753-65. Epub 2005 Jan 27.

Intracellular Protein Transport, Independent Junior Research Group, Max-Planck-Institute of Biochemistry, Martinsried, Germany.

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http://dx.doi.org/10.1038/sj.emboj.7600569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC549625PMC
February 2005

Phosphorylation of mitotic kinesin-like protein 2 by polo-like kinase 1 is required for cytokinesis.

J Cell Biol 2003 Sep 25;162(5):863-75. Epub 2003 Aug 25.

Intracellular Protein Transport, Independent Junior Research Group, Max-Planck-Institute of Biochemistry, 82152 Martinsried, Germany.

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http://dx.doi.org/10.1083/jcb.200306009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172827PMC
September 2003

The Rab6 GTPase regulates recruitment of the dynactin complex to Golgi membranes.

Curr Biol 2002 Oct;12(20):1792-5

Department of Cell Biology, Max-Planck-Institute of Biochemistry, Martinsried, Germany.

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http://dx.doi.org/10.1016/s0960-9822(02)01221-6DOI Listing
October 2002