Laura S. Kremer

发表

Detection of aberrant splicing events in RNA-seq data with FRASER

Vicente A. Yépez, J. Gagneur, H. Prokisch, 2019, bioRxiv.

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.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

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.

Mitochondrial Disease Genetics

Marni J. Falk, H. Prokisch, M. Falk, 2019, Diagnosis and Management of Mitochondrial Disorders.

Adaptive mitochondrial regulation of the proteasome

H. Prokisch, H. Zischka, T. Schwarzmayr, 2020, bioRxiv.

Discovery and validation of coding and non-coding pathogenic variants in mitochondrial disorders

Laura S. Kremer, L. Kremer, 2017 .

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

V. Mootha, B. Paw, S. Dimauro, 2013, American journal of human genetics.

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.

A role for BCL2L13 and autophagy in germline purifying selection of mtDNA

Lyuba V. Bozhilova, P. Chinnery, N. Larsson, 2022, bioRxiv.

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.

T. Meitinger, T. Strom, H. Prokisch, 2016, Brain : a journal of neurology.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

T. Meitinger, T. Strom, H. Prokisch, 2017 .

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

P. Bénit, V. Tiranti, H. Prokisch, 2019, Orphanet Journal of Rare Diseases.

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

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

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

T. Meitinger, T. Strom, H. Prokisch, 2016, Journal of hepatology.

“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing

H. Prokisch, S. Wortmann, Laura S. Kremer, 2018, Journal of Inherited Metabolic Disease.

Detection of aberrant splicing events in RNA-seq data using FRASER

Vicente A. Yépez, J. Gagneur, H. Prokisch, 2021, Nature Communications.

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Michaela Frye, Richard Durbin, Holger Prokisch, 2016, Nature Communications.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

R. Durbin, T. Meitinger, T. Strom, 2016, American journal of human genetics.

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.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

P. Svenningsson, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack

P. Svenningsson, T. Meitinger, T. Strom, 2022 .

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.

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.

W. Wurst, H. Prokisch, M. D. de Angelis, 2015, Human molecular genetics.

Mitochondrial phosphoproteomes are functionally specialized across tissues

Isabell Bludau, N. Larsson, Laura S. Kremer, 2022, bioRxiv.

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.

Robert W. Taylor, M. Westphall, H. Prokisch, 2016, Molecular cell.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

Mitochondrial Protein Inte raction Mapping Identifies Regulators of Respiratory Chain Function Graphical

Robert W. Taylor, M. Westphall, H. Prokisch, 2016 .

“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing

H. Prokisch, S. Wortmann, Laura S. Kremer, 2018, Journal of Inherited Metabolic Disease.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

H. Prokisch, U. Löbel, T. Haack, 2017, Mitochondrion.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Robert W. Taylor, Courtney E. French, A. Pagnamenta, 2018, American journal of human genetics.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Marni J. Falk, T. Wieland, T. Meitinger, 2013, American journal of human genetics.

Mitochondrial Regulation of the 26S Proteasome.

H. Prokisch, H. Zischka, T. Schwarzmayr, 2020, Cell reports.

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.

Opus: University of Bath Online Publication Store Deficient Methylation and Formylation of Mt-trna Met Wobble Cytosine in a Patient Carrying Mutations in Nsun3

M. Minczuk, M. Frye, Y. Memari, 2022 .

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.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Robert W. Taylor, H. Hakonarson, Yiran Guo, 2018, Brain : a journal of neurology.