Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
出版年份 2021 全文链接
标题
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 108, Issue 7, Pages 1301-1317
出版商
Elsevier BV
发表日期
2021-05-25
DOI
10.1016/j.ajhg.2021.05.003
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- (2020) Holger Hengel et al. Nature Communications
- Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2
- (2020) Nathalie Escande-Beillard et al. NEURON
- Glycogen metabolism regulates macrophage-mediated acute inflammatory responses
- (2020) Jingwei Ma et al. Nature Communications
- Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly
- (2020) Shan Zhang et al. Nature Communications
- Mitochondrial Quality Control and Restraining Innate Immunity
- (2020) Andrew T. Moehlman et al. Annual Review of Cell and Developmental Biology
- Quality control of the mitochondrial proteome
- (2020) Jiyao Song et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- (2020) Sahar Elouej et al. Nature Communications
- Cell-type-specific profiling of brain mitochondria reveals functional and molecular diversity
- (2019) Caroline Fecher et al. NATURE NEUROSCIENCE
- Fragmented mitochondria released from microglia trigger A1 astrocytic response and propagate inflammatory neurodegeneration
- (2019) Amit U. Joshi et al. NATURE NEUROSCIENCE
- Pleiotropic Mitochondria: The Influence of Mitochondria on Neuronal Development and Disease
- (2019) Vidhya Rangaraju et al. JOURNAL OF NEUROSCIENCE
- Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders
- (2019) Phil H. Lee et al. CELL
- Mitochondrial abnormalities in Parkinson's disease and Alzheimer's disease: can mitochondria be targeted therapeutically?
- (2018) Ruby Macdonald et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
- (2018) Alexander Gusev et al. NATURE GENETICS
- Characterization of cross-tissue genetic-epigenetic effects and their patterns in schizophrenia
- (2018) Dongdong Lin et al. Genome Medicine
- Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency
- (2017) Izabella A. Pena et al. GENETICS
- Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections
- (2017) Chao Tian et al. Nature Communications
- Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency
- (2017) Izabella A. Pena et al. GENETICS
- M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
- (2016) Karthik A Jagadeesh et al. NATURE GENETICS
- Mitochondrial diseases
- (2016) Gráinne S. Gorman et al. Nature Reviews Disease Primers
- Mitochondrial dysfunction and seizures: the neuronal energy crisis
- (2015) Gábor Zsurka et al. LANCET NEUROLOGY
- MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins
- (2015) Sarah E. Calvo et al. NUCLEIC ACIDS RESEARCH
- Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment
- (2013) Scott C. Baraban et al. Nature Communications
- Mitochondria: In Sickness and in Health
- (2012) Jodi Nunnari et al. CELL
- Fiji: an open-source platform for biological-image analysis
- (2012) Johannes Schindelin et al. NATURE METHODS
- Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells
- (2012) Marco Spinazzi et al. Nature Protocols
- The Mitochondrial Proteome and Human Disease
- (2010) Sarah E. Calvo et al. Annual Review of Genomics and Human Genetics
- Parkin-induced mitophagy in the pathogenesis of Parkinson disease
- (2009) Derek Narendra et al. Autophagy
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started