Related references
Note: Only part of the references are listed.A simple and effective F0 knockout method for rapid screening of behaviour and other complex phenotypes
Francois Kroll et al.
ELIFE (2021)
Genetic basis of mitochondrial diseases
Mirjana Gusic et al.
FEBS LETTERS (2021)
POLRMT mutations impair mitochondrial transcription causing neurological disease
Monika Olahova et al.
NATURE COMMUNICATIONS (2021)
Neuromuscular Junction Abnormalities in Mitochondrial Disease An Observational Cohort Study
Luis P. Braz et al.
NEUROLOGY-CLINICAL PRACTICE (2021)
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Lisa G. Riley et al.
GENETICS IN MEDICINE (2020)
Seave: a comprehensive web platform for storing and interrogating human genomic variation
Velimir Gayevskiy et al.
BIOINFORMATICS (2019)
The R package Rsubread is easier, faster, cheaper and better for alignment and quantification of RNA sequencing reads
Yang Liao et al.
NUCLEIC ACIDS RESEARCH (2019)
TEFM regulates both transcription elongation and RNA processing in mitochondria
Shan Jiang et al.
EMBO REPORTS (2019)
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome
Grace M. McMacken et al.
HUMAN MOLECULAR GENETICS (2019)
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′-end processing
Makenzie Saoura et al.
HUMAN MUTATION (2019)
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
Daehwan Kim et al.
NATURE BIOTECHNOLOGY (2019)
Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish
Emily O'Connor et al.
CELLS (2019)
Homozygous DMRT2 variant associates with severe rib malformations in a newborn
Arjan Bouman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Mitochondrial transcription and translation: overview
Aaron R. D'Souza et al.
MITOCHONDRIAL DISEASES (2018)
Mitochondrial DNA transcription and translation: clinical syndromes
Veronika Boczonadi et al.
MITOCHONDRIAL DISEASES (2018)
Mitochondrial DNA replication: clinical syndromes
Mohammed Almannai et al.
MITOCHONDRIAL DISEASES (2018)
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Periklis Makrythanasis et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
Hanns Lochmueller et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
ggsashimi: Sashimi plot revised for browser- and annotation-independent splicing visualization
Diego Garrido-Martin et al.
PLOS COMPUTATIONAL BIOLOGY (2018)
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database
F. Musacchia et al.
BMC BIOINFORMATICS (2018)
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
Ahmad Alodaib et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Human Mitochondrial Transcription Factor B2 Is Required for Promoter Melting during Initiation of Transcription
Viktor Posse et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Caterina Garone et al.
HUMAN MOLECULAR GENETICS (2017)
Salmon provides fast and bias-aware quantification of transcript expression
Rob Patro et al.
NATURE METHODS (2017)
Maturation of selected human mitochondrial tRNAs requires deadenylation
Sarah F. Pearce et al.
ELIFE (2017)
Structural Basis of Mitochondrial Transcription Initiation
Hauke S. Hillen et al.
CELL (2017)
Mechanism of Transcription Anti-termination in Human Mitochondria
Hauke S. Hillen et al.
CELL (2017)
Maintenance and Expression of Mammalian Mitochondrial DNA
Claes M. Gustafsson et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 85 (2016)
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
Ashlee R. Stiles et al.
MOLECULAR GENETICS AND METABOLISM (2016)
The Perseus computational platform for comprehensive analysis of (prote)omics data
Stefka Tyanova et al.
NATURE METHODS (2016)
Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity
Benedict G. Tan et al.
NUCLEIC ACIDS RESEARCH (2016)
Deficient methylation and formylation of mt- tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute et al.
NATURE COMMUNICATIONS (2016)
Hierarchical RNA Processing Is Required for Mitochondrial Ribosome Assembly
Oliver Rackham et al.
CELL REPORTS (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Xiaolin Zhu et al.
GENETICS IN MEDICINE (2015)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
TEFM is a potent stimulator of mitochondrial transcription elongation in vitro
Viktor Posse et al.
NUCLEIC ACIDS RESEARCH (2015)
Replication-transcription switch in human mitochondria
Karen Agaronyan et al.
SCIENCE (2015)
Trimmomatic: a flexible trimmer for Illumina sequence data
Anthony M. Bolger et al.
BIOINFORMATICS (2014)
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Michael I. Love et al.
GENOME BIOLOGY (2014)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
The zebrafish reference genome sequence and its relationship to the human genome
Kerstin Howe et al.
NATURE (2013)
GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
Umadevi Paila et al.
PLOS COMPUTATIONAL BIOLOGY (2013)
Bpipe: a tool for running and managing bioinformatics pipelines
Simon P. Sadedin et al.
BIOINFORMATICS (2012)
Fiji: an open-source platform for biological-image analysis
Johannes Schindelin et al.
NATURE METHODS (2012)
Structure of human mitochondrial RNA polymerase
Rieke Ringel et al.
NATURE (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
TEFM (c17orf42) is necessary for transcription of human mtDNA
Michal Minczuk et al.
NUCLEIC ACIDS RESEARCH (2011)
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan et al.
BIOINFORMATICS (2010)
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes
Juliane S. Mueller et al.
HUMAN MOLECULAR GENETICS (2010)
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Sarah E. Calvo et al.
NATURE GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
G-quadruplex structures in RNA stimulate mitochondrial transcription termination and primer formation
Paulina H. Wanrooij et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
TFB2 Is a Transient Component of the Catalytic Site of the Human Mitochondrial RNA Polymerase
Marina Sologub et al.
CELL (2009)
Locomotion in larval zebrafish: Influence of time of day, lighting and ethanol
R. C. MacPhail et al.
NEUROTOXICOLOGY (2009)
The function of mitochondria in presynaptic development at the neuromuscular junction
Chi Wai Lee et al.
MOLECULAR BIOLOGY OF THE CELL (2008)
MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification
Juergen Cox et al.
NATURE BIOTECHNOLOGY (2008)
A guided tour into subcellular colocalization analysis in light microscopy
S. Bolte et al.
JOURNAL OF MICROSCOPY (2006)
Conserved sequence box II directs transcription termination and primer formation in mitochondriaw2
Xuan Hoi Pham et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Determination of the cleavage site of the presequence by mitochondrial processing peptidase on the substrate binding scaffold and the multiple subsites inside a molecular cavity
S Kitada et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA
M Falkenberg et al.
NATURE GENETICS (2002)
The genetics and pathology of oxidative phosphorylation
J Smeitink et al.
NATURE REVIEWS GENETICS (2001)
Share Paper
