R. Kopajtich

发表

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.

YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3ζ

Robert Kopajtich, E. Bruyneel, C. Preisinger, 2004, The Journal of cell biology.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Robert W. Taylor, Daniel M Bader, J. Gagneur, 2017, Nature Communications.

Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 Authors

McFarland, T. Meitinger, T. Strom, 2016 .

Neonatal lactic acidosis explained by LARS2 defect

H. Prokisch, A. Vanlander, B. De Paepe, 2022, Pediatric Research.

A GTPase-activating protein controls Rab5 function in endocytic trafficking

F. Barr, E. Fuchs, Alexander K. Haas, 2005, Nature Cell Biology.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Robert W. Taylor, Alexis A. Jourdain, V. Mootha, 2017, American journal of human genetics.

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

T. Meitinger, T. Strom, S. Züchner, 2014, American journal of human genetics.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

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

H. Prokisch, Ryan J Schulze, M. McNiven, 2019, American journal of human genetics.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure

H. Prokisch, R. Kopajtich, Magdeldin Elgizouli, 2019, Pediatrics.

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

Vicente A. Yépez, J. Gagneur, H. Prokisch, 2017, bioRxiv.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Robert W. Taylor, E. Haan, Pedro Rebelo-Guiomar, 2018, bioRxiv.

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

H. Prokisch, J. Mayr, R. Kopajtich, 2017, Methods in molecular biology.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Robert W. Taylor, Aaron R D'Souza, M. Minczuk, 2015, American journal of human genetics.

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

Robert W. Taylor, M. Minczuk, T. Wieland, 2013, American journal of human genetics.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

Golgi matrix proteins interact with p24 cargo receptors and aid their efficient retention in the Golgi apparatus

R. Körner, C. Preisinger, F. Barr, 2001, The Journal of cell biology.

A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic

R. Körner, O. Byron, C. Preisinger, 2001, The Journal of cell biology.

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

E. Nigg, H. Silljé, F. Barr, 2007, Nature Cell Biology.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

E. Bertini, V. Tiranti, R. Carrozzo, 2019, The Journal of clinical investigation.

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

W. Lehmann, R. Körner, C. Preisinger, 2005, The EMBO journal.

Cooperation between Mitotic Kinesins Controls the Late Stages of Cytokinesis

U. Klein, F. Barr, R. Kopajtich, 2006, Current Biology.

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

E. Nigg, C. Preisinger, F. Barr, 2003, The Journal of cell biology.

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

H. Prokisch, K. Claeys, R. Płoski, 2020, Human mutation.

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

H. Prokisch, K. Kuhn, L. Schöls, 2016, Journal of Neurology.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

M. Carl, I. Harting, T. Meitinger, 2016, American journal of human genetics.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

T. Meitinger, T. Strom, H. Prokisch, 2018, Neuropediatrics.

The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics

Holger Prokisch, Christina Ludwig, Sarah L Stenton, 2020, Journal of inherited metabolic disease.

The Rab6 GTPase Regulates Recruitment of the Dynactin Complex to Golgi Membranes

C. Preisinger, F. Barr, B. Short, 2002, Current Biology.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

T. Meitinger, I. Krägeloh-Mann, R. Płoski, 2020, Brain : a journal of neurology.

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

Robert W. Taylor, W. Chung, A. Borczuk, 2018, American journal of human genetics.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Robert W. Taylor, T. Strom, M. Zeviani, 2013, Human mutation.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Colin A. Johnson, E. R. Baumgartner, T. Meitinger, 2016, American journal of human genetics.

Protonation-Dependent Sequencing of 5-Formylcytidine in RNA.

H. Prokisch, R. Chari, J. Ivanic, 2022, Biochemistry.

Protonation-Dependent Sequencing of 5-Formylcytidine in RNA

H. Prokisch, R. Chari, J. Ivanic, 2021, bioRxiv.

Identification of a Novel Variant in MT-CO3 Causing MELAS

M. Elstner, H. Prokisch, Zhaoxia Wang, 2021, Frontiers in Genetics.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy

G. Pruijn, J. Veltman, H. Prokisch, 2017, Human mutation.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

R. Weksberg, T. Meitinger, N. Boddaert, 2022, Human molecular genetics.

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.

L. Romito, H. Prokisch, J. Winkelmann, 2022, Parkinsonism & related disorders.

The phenotypic spectrum of COX20-associated mitochondrial disorder.

M. Elstner, H. Prokisch, Zhaoxia Wang, 2022, Brain : a journal of neurology.

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

H. Prokisch, R. Jech, B. Haslinger, 2023, Movement disorders : official journal of the Movement Disorder Society.

Investigating the role of ASCC1 in the causation of bone fragility

H. Prokisch, S. Wortmann, B. V. D. van der Eerden, 2023, Frontiers in Endocrinology.

Gene expression and splicing counts from the Yepez, Gusic et al study - non-strand specific

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021 .

Neonatal lactic acidosis explained by LARS2 defect

H. Prokisch, A. Vanlander, B. De Paepe, 2022, Pediatric Research.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

H. Prokisch, M. Hempel, I. Wittig, 2023, Molecular genetics and metabolism.

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

Dmitrii Smirnov, R. Kopajtich, Ainhoa Pascual‐Alonso, 2023, Human Genomics.

Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype

T. Meitinger, H. Prokisch, T. Haack, 2013 .

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

E. Nigg, C. Preisinger, F. Barr, 2003, The Journal of cell biology.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

R. Carrozzo, T. Arzberger, C. La Morgia, 2024, American journal of human genetics.

YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3ζ

E. Bruyneel, C. Preisinger, F. Barr, 2004, The Journal of cell biology.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.