Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

The ezh2(sa1199) mutant zebrafish display no distinct phenotype

(2019) Bilge San et al.   PLoS One

PTC-bearing mRNA elicits a genetic compensation response via Upf3a and COMPASS components

(2019) Zhipeng Ma et al.   NATURE

Genetic compensation triggered by mutant mRNA degradation

(2019) Mohamed A. El-Brolosy et al.   NATURE

Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein

(2018) Tamar E. Sztal et al.   PLoS Genetics

Insights into the genotype-phenotype correlation and molecular function of SLC25A46

(2018) Alexander J. Abrams et al.   HUMAN MUTATION

Motor Neuron Abnormalities Correlate with Impaired Movement in Zebrafish that Express Mutant Superoxide Dismutase 1

(2018) Katherine J. Robinson et al.   Zebrafish

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice

(2017) Zhuo Li et al.   HUMAN MOLECULAR GENETICS

Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria

(2017) Janos Steffen et al.   MOLECULAR BIOLOGY OF THE CELL

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

(2017) Monia B. Hammer et al.   Neurodegenerative Diseases

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health

(2017) Amandine Duchesne et al.   PLoS Genetics

Genetic compensation: A phenomenon in search of mechanisms

(2017) Mohamed A. El-Brolosy et al.   PLoS Genetics

Novel insights into SLC25A46-related pathologies in a genetic mouse model

(2017) Maria Eirini Terzenidou et al.   PLoS Genetics

mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay

(2017) Jennifer L. Anderson et al.   PLoS Genetics

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

(2016) Jijun Wan et al.   BRAIN

Novel pathogenicSLC25A46splice-site mutation causes an optic atrophy spectrum disorder

(2016) M. Nguyen et al.   CLINICAL GENETICS

SLC25A46is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

(2016) Alexandre Janer et al.   EMBO Molecular Medicine

The nonessentiality of essential genes in yeast provides therapeutic insights into a human disease

(2016) Piaopiao Chen et al.   GENOME RESEARCH

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

(2016) Gavin Charlesworth et al.   MOVEMENT DISORDERS

A high-throughput functional genomics workflow based on CRISPR/Cas9-mediated targeted mutagenesis in zebrafish

(2016) Gaurav K Varshney et al.   Nature Protocols

Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish

(2016) Robert A. Kozol et al.   Frontiers in Molecular Neuroscience

Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish

(2015) Fatma O. Kok et al.   DEVELOPMENTAL CELL

High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9

(2015) Gaurav K. Varshney et al.   GENOME RESEARCH

Genetic compensation induced by deleterious mutations but not gene knockdowns

(2015) Andrea Rossi et al.   NATURE

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

(2015) Alexander J Abrams et al.   NATURE GENETICS

Rapid reverse genetic screening using CRISPR in zebrafish

(2015) Arish N Shah et al.   NATURE METHODS

CRISPR-STAT: an easy and reliable PCR-based method to evaluate target-specific sgRNA activity

(2015) Blake Carrington et al.   NUCLEIC ACIDS RESEARCH

Auxin binding protein 1 (ABP1) is not required for either auxin signaling orArabidopsisdevelopment

(2015) Yangbin Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

klf2ash317 Mutant Zebrafish Do Not Recapitulate Morpholino-Induced Vascular and Haematopoietic Phenotypes

(2015) Peter Novodvorsky et al.   PLoS One

The Serine-Threonine Protein Kinase PAK4 Is Dispensable in Zebrafish: Identification of a Morpholino-Generated Pseudophenotype

(2014) Sheran H. W. Law et al.   PLoS One

Physiological and pathological roles of mitochondrial SLC25 carriers: Figure 1

(2013) Manuel Gutiérrez-Aguilar et al.   BIOCHEMICAL JOURNAL

Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes

(2013) Jacqueline K. White et al.   CELL

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

The Nedd4-binding protein 3 (N4BP3) is crucial for axonal and dendritic branching in developing neurons

(2013) Michael J Schmeisser et al.   Neural Development

Regulation of Mitochondrial Morphogenesis by Annexin A6

(2013) Marcin Chlystun et al.   PLoS One

Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system

(2013) Li-En Jao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

The mitochondrial transporter family SLC25: Identification, properties and physiopathology

(2012) Ferdinando Palmieri   MOLECULAR ASPECTS OF MEDICINE

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

(2012) Jillian P. Casey et al.   MOLECULAR GENETICS AND METABOLISM

Simple Neurite Tracer: open source software for reconstruction, visualization and analysis of neuronal processes

(2011) M. H. Longair et al.   BIOINFORMATICS

Atypical Protein Kinase C Regulates Primary Dendrite Specification of Cerebellar Purkinje Cells by Localizing Golgi Apparatus

(2010) K. Tanabe et al.   JOURNAL OF NEUROSCIENCE

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

A Primer for Morpholino Use in Zebrafish

(2009) Brent R. Bill et al.   Zebrafish