Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
暂无分享,去创建一个
Jafar S. Jabbari | V. Mootha | Y. Okazaki | R. Taft | K. Nitta | AnneMarie E. Welch | M. Cowley | F. Wong | A. Minoche | E. Wiltshire | J. Fletcher | S. Calvo | J. Christodoulou | G. Baynam | Ann E. Frazier | A. Compton | Y. Kishita | D. Hock | Sumudu Amarasekera | Rocio Rius | L. E. Formosa | A. Imai-Okazaki | D. Francis | Min Wang | N. Lake | Simone Tregoning | Alexis Lucattini | A. Ohtake | K. Murayama | D. Amor | G. McGillivray | M. S. van der Knaap | R. Jeroen Vermeulen | B. Lewis | C. Ellaway | S. Balasubramaniam | K. Bhattacharya | M. Freckmann | S. Arbuckle | Michael Rodriguez | S. Sadedin | M. Ryan | D. Stroud | C. Simons | D. Thorburn | R. Vermeulen | Daniella H. Hock | Atsuko Imai-Okazaki | Janice M. Fletcher | Yoshihito Kishita | Janice M. Fletcher | Michael T. Ryan | David J. Amor | Cas | AnneMarie E. Welch | Simone | Tregoning | Jafar S. Jabbari | Kazuhiro R. Nitta | Kei | Murayama | Flora Y. Wong | Marjo S. van der | Knaap | R. J. Vermeulen | Barry | Lewis | Kaustuv | Bhattacharya | Ryan J. Taft | Mark J Cowley | E. Sarah | Calvo | Simons
[1] Tariq Ahmad,et al. A structural variation reference for medical and population genetics , 2020, Nature.
[2] Andreas Martin,et al. Stairway to translocation: AAA+ motor structures reveal the mechanisms of ATP‐dependent substrate translocation , 2020, Protein science : a publication of the Protein Society.
[3] Robert W. Taylor,et al. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism , 2020, American journal of human genetics.
[4] Massimo Zeviani,et al. Respiratory supercomplexes act as a platform for complex III‐mediated maturation of human mitochondrial complexes I and IV , 2020, The EMBO journal.
[5] David M. Thomas,et al. mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data , 2019, bioRxiv.
[6] J. Arenas,et al. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. , 2019, Molecular genetics and metabolism.
[7] N. Brown,et al. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing , 2019, European Journal of Human Genetics.
[8] Simon C. Potter,et al. The EMBL-EBI search and sequence analysis tools APIs in 2019 , 2019, Nucleic Acids Res..
[9] C. Hoppel,et al. ATAD3A oligomerization causes neurodegeneration by coupling mitochondrial fragmentation and bioenergetics defects , 2019, Nature Communications.
[10] Grace Tiao,et al. An open resource of structural variation for medical and population genetics , 2019 .
[11] J. Flowers,et al. Origins and geographic diversification of African rice (Oryza glaberrima) , 2018, bioRxiv.
[12] C. Moraes,et al. ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels , 2018, Journal of Cell Science.
[13] H. Prokisch,et al. Advancing genomic approaches to the molecular diagnosis of mitochondrial disease. , 2018, Essays in biochemistry.
[14] J. Rahman,et al. Mitochondrial medicine in the omics era , 2018, The Lancet.
[15] P. Pevzner,et al. Detection and analysis of ancient segmental duplications in mammalian genomes , 2018, Genome research.
[16] J. Baudier. ATAD3 proteins: brokers of a mitochondria–endoplasmic reticulum connection in mammalian cells , 2018, Biological reviews of the Cambridge Philosophical Society.
[17] K. Paigen,et al. PRDM9 and Its Role in Genetic Recombination. , 2018, Trends in genetics : TIG.
[18] J. Lupski,et al. Genomic disorders 20 years on—mechanisms for clinical manifestations , 2018, Clinical genetics.
[19] Alicia Oshlack,et al. Ximmer: a system for improving accuracy and consistency of CNV calling from exome data , 2018, bioRxiv.
[20] Marcel E. Dinger,et al. Seave: a comprehensive web platform for storing and interrogating human genomic variation , 2018, bioRxiv.
[21] Ann E. Frazier,et al. Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology , 2017, The Journal of Biological Chemistry.
[22] Mauricio O. Carneiro,et al. Scaling accurate genetic variant discovery to tens of thousands of samples , 2017, bioRxiv.
[23] C. Yardin,et al. Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation. , 2017, European journal of medical genetics.
[24] F. Klumper,et al. Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance. , 2017, Brain : a journal of neurology.
[25] Heng Li,et al. Minimap2: pairwise alignment for nucleotide sequences , 2017, Bioinform..
[26] Sander M Houten,et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. , 2017, American journal of human genetics.
[27] A. Wilkie,et al. Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders , 2017, Prenatal diagnosis.
[28] Y. Okazaki,et al. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism , 2017, Brain : a journal of neurology.
[29] Stephanie S. Lam,et al. Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes in living human cells by proximity biotinylation , 2017, eLife.
[30] Anthony J. Cox,et al. Canvas SPW: calling de novo copy number variants in pedigrees , 2017, bioRxiv.
[31] S. Kaakkola,et al. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia , 2017, Human molecular genetics.
[32] Jüergen Cox,et al. The MaxQuant computational platform for mass spectrometry-based shotgun proteomics , 2016, Nature Protocols.
[33] Donna M. Martin,et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. , 2016, American journal of human genetics.
[34] Ann E. Frazier,et al. Accessory subunits are integral for assembly and function of human mitochondrial complex I , 2016, Nature.
[35] Robert W. Taylor,et al. De novo mtDNA point mutations are common and have a low recurrence risk , 2016, Journal of Medical Genetics.
[36] Marco Y. Hein,et al. The Perseus computational platform for comprehensive analysis of (prote)omics data , 2016, Nature Methods.
[37] D. Rousseau,et al. Resveratrol inhibits lipogenesis of 3T3-L1 and SGBS cells by inhibition of insulin signaling and mitochondrial mass increase. , 2016, Biochimica et biophysica acta.
[38] F. Cunningham,et al. The Ensembl Variant Effect Predictor , 2016, bioRxiv.
[39] J. Lupski,et al. Mechanisms underlying structural variant formation in genomic disorders , 2016, Nature Reviews Genetics.
[40] Y. Okazaki,et al. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies , 2016, PLoS genetics.
[41] Hanlee P. Ji,et al. Haplotyping germline and cancer genomes using high-throughput linked-read sequencing , 2015, Nature Biotechnology.
[42] E. Mayatepek,et al. Caenorhabditis elegans ATAD-3 modulates mitochondrial iron and heme homeostasis. , 2015, Biochemical and biophysical research communications.
[43] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[44] A. Reyes,et al. Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure , 2015, Scientific Reports.
[45] Denis C. Bauer,et al. Cpipe: a shared variant detection pipeline designed for diagnostic settings , 2015, bioRxiv.
[46] M. K. Rudd,et al. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. , 2015, American journal of human genetics.
[47] Nancy R. Zhang,et al. CODEX: a normalization and copy number variation detection method for whole exome sequencing , 2015, Nucleic acids research.
[48] Y. Okazaki,et al. Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome , 2014, Pediatrics international : official journal of the Japan Pediatric Society.
[49] M. Mann,et al. Minimal, encapsulated proteomic-sample processing applied to copy-number estimation in eukaryotic cells , 2014, Nature Methods.
[50] A. Suomalainen,et al. Tissue- and cell-type–specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model , 2013, Proceedings of the National Academy of Sciences.
[51] J. Rosenfeld,et al. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits , 2013, Genome research.
[52] Robert W. Taylor,et al. SURF1 deficiency: a multi-centre natural history study , 2013, Orphanet Journal of Rare Diseases.
[53] V. Mootha,et al. Targeted exome sequencing of suspected mitochondrial disorders , 2013, Neurology.
[54] Aaron R. Quinlan,et al. GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations , 2013, PLoS Comput. Biol..
[55] Carthene R. Bazemore-Walker,et al. In-depth proteomic analysis of mammalian mitochondria-associated membranes (MAM). , 2013, Journal of proteomics.
[56] E. Kremmer,et al. Atad3 Function Is Essential for Early Post-Implantation Development in the Mouse , 2013, PloS one.
[57] L. E. Formosa,et al. Gene Knockout Using Transcription Activator-like Effector Nucleases (TALENs) Reveals That Human NDUFA9 Protein Is Essential for Stabilizing the Junction between Membrane and Matrix Arms of Complex I* , 2012, The Journal of Biological Chemistry.
[58] Ryan M. Layer,et al. LUMPY: a probabilistic framework for structural variant discovery , 2012, Genome Biology.
[59] E. Banks,et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. , 2012, American journal of human genetics.
[60] T. Veenstra,et al. Identification of a dynamic mitochondrial protein complex driving cholesterol import, trafficking, and metabolism to steroid hormones. , 2012, Molecular endocrinology.
[61] S. Rahman,et al. Complex I deficiency: clinical features, biochemistry and molecular genetics , 2012, Journal of Medical Genetics.
[62] Nicholas W. Wood,et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling , 2012, Bioinform..
[63] J. Honnorat,et al. ATAD3B is a human embryonic stem cell specific mitochondrial protein, re-expressed in cancer cells, that functions as dominant negative for the ubiquitous ATAD3A. , 2012, Mitochondrion.
[64] Pengfei Liu,et al. Mechanisms for recurrent and complex human genomic rearrangements. , 2012, Current opinion in genetics & development.
[65] J. Walker,et al. Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis , 2012, Nucleic acids research.
[66] S. Dimauro,et al. Mitochondrial Diseases , 2012, Journal of epilepsy research.
[67] D. Jaffe,et al. Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing , 2012, Science Translational Medicine.
[68] M. Gerstein,et al. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. , 2011, Genome research.
[69] Bradley P. Coe,et al. Genome structural variation discovery and genotyping , 2011, Nature Reviews Genetics.
[70] S. Sugano,et al. ATPase family AAA domain-containing 3A is a novel anti-apoptotic factor in lung adenocarcinoma cells , 2010, Journal of Cell Science.
[71] J. Baudier,et al. The AAA+ ATPase ATAD3A Controls Mitochondrial Dynamics at the Interface of the Inner and Outer Membranes , 2010, Molecular and Cellular Biology.
[72] E. Mayatepek,et al. C. elegans ATAD-3 Is Essential for Mitochondrial Activity and Development , 2009, PloS one.
[73] Heather C Mefford,et al. Duplication hotspots, rare genomic disorders, and common disease. , 2009, Current opinion in genetics & development.
[74] Manuel Corpas,et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.
[75] S. Dimauro,et al. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders , 2007, European Journal of Human Genetics.
[76] A. Reyes,et al. The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization , 2007, The Journal of cell biology.
[77] Robert W. Taylor,et al. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. , 2006, Human reproduction.
[78] Andrew J Sharp,et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome , 2006, Nature Genetics.
[79] L. Howard,et al. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality , 2003, Clinical genetics.
[80] K. Truscott,et al. Insertion and Assembly of Human Tom7 into the Preprotein Translocase Complex of the Outer Mitochondrial Membrane* , 2002, The Journal of Biological Chemistry.
[81] M. Adams,et al. Recent Segmental Duplications in the Human Genome , 2002, Science.
[82] P. Stankiewicz,et al. Genome architecture, rearrangements and genomic disorders. , 2002, Trends in genetics : TIG.
[83] Thomas D. Schmittgen,et al. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.
[84] J. V. Moran,et al. Initial sequencing and analysis of the human genome. , 2001, Nature.
[85] D. Thorburn,et al. Respiratory chain complex I deficiency , 1999, Neurology.
[86] J. D. Parsons,et al. Miropeats: graphical DNA sequence comparisons , 1995, Comput. Appl. Biosci..
[87] P. K. Smith,et al. Measurement of protein using bicinchoninic acid. , 1985, Analytical biochemistry.
[88] S. Kridel,et al. Atad3a suppresses Pink1-dependent mitophagy to maintain homeostasis of hematopoietic progenitor cells , 2017, Nature Immunology.
[89] Ann E. Frazier,et al. Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance. , 2017, Brain : a journal of neurology.
[90] Florian Hahne,et al. Visualizing Genomic Data Using Gviz and Bioconductor , 2016, Statistical Genomics.
[91] V. Papadopoulos,et al. Mitochondria-associated membrane formation in hormone-stimulated Leydig cell steroidogenesis: role of ATAD3. , 2015, Endocrinology.
[92] Ann E. Frazier,et al. Biochemical analyses of the electron transport chain complexes by spectrophotometry. , 2012, Methods in molecular biology.
[93] T. Langer,et al. Mitochondrial AAA proteases--towards a molecular understanding of membrane-bound proteolytic machines. , 2012, Biochimica et biophysica acta.
[94] Sebastian Kube,et al. Structure and function of the AAA+ nucleotide binding pocket. , 2012, Biochimica et biophysica acta.
[95] Claude-Alain H. Roten,et al. Fast and accurate short read alignment with Burrows–Wheeler transform , 2009, Bioinform..
[96] H. Schägger,et al. Blue native PAGE , 2006, Nature Protocols.
[97] D. Scott,et al. The Application of Clinical Genetics Dovepress 1p36 Deletion Syndrome: an Update , 2022 .
[98] M. Rivas,et al. Nature Genetics Advance Online Publication High-throughput, Pooled Sequencing Identifies Mutations in Nubpl and Foxred1 in Human Complex I Deficiency , 2022 .