A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
about
The fifth adaptor protein complexAPRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancerAdaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegiaComplicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyAn RNA interference lethality screen of the human druggable genome to identify molecular vulnerabilities in epithelial ovarian cancerIn Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11The cell biology of the endocytic system from an evolutionary perspectiveInteraction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.Integration of biological data by kernels on graph nodes allows prediction of new genes involved in mitotic chromosome condensation.SCOWLP update: 3D classification of protein-protein, -peptide, -saccharide and -nucleic acid interactions, and structure-based binding inferences across folds.Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationGenome-wide transcriptome profiling of homologous recombination DNA repair.A high-throughput chemical screen with FDA approved drugs reveals that the antihypertensive drug Spironolactone impairs cancer cell survival by inhibiting homology directed repairHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Souffle/Spastizin controls secretory vesicle maturation during zebrafish oogenesis.Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.A systematic RNAi synthetic interaction screen reveals a link between p53 and snoRNP assembly.Adaptor protein complexes and intracellular transport.RNAi screening: new approaches, understandings, and organisms.Bioinformatic indications that COPI- and clathrin-based transport systems are not present in chloroplasts: an Arabidopsis modelA macrohistone variant links dynamic chromatin compaction to BRCA1-dependent genome maintenance.AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegiaA high-throughput, flow cytometry-based method to quantify DNA-end resection in mammalian cells.Identification by array comparative genomic hybridization of a new amplicon on chromosome 17q highly recurrent in BRCA1 mutated triple negative breast cancer.Regulators of homologous recombination repair as novel targets for cancer treatment.Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Targeting Human Long Noncoding Transcripts by Endoribonuclease-Prepared siRNAs.A Systematic Analysis of Factors Localized to Damaged Chromatin Reveals PARP-Dependent Recruitment of Transcription FactorsHomologous recombination assay for interstrand cross-link repair.A genome-wide homologous recombination screen identifies the RNA-binding protein RBMX as a component of the DNA-damage response.SERBP1 affects homologous recombination-mediated DNA repair by regulation of CtIP translation during S phaseAn analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseTrisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.Tracking genome engineering outcome at individual DNA breakpointsA monoclonal antibody against human MUDENG protein.The differential expression of alternatively polyadenylated transcripts is a common stress-induced response mechanism that modulates mammalian mRNA expression in a quantitative and qualitative fashion.
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P2860
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
description
2010 nî lūn-bûn
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2010 թուականին հրատարակուած գիտական յօդուած
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2010 թվականին հրատարակված գիտական հոդված
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2010年の論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年论文
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name
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@ast
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@en
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@en-gb
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@nl
type
label
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@ast
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@en
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@en-gb
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@nl
prefLabel
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@ast
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@en
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@en-gb
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@nl
P2093
P2860
P50
P921
P3181
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P1476
A genome-scale DNA repair RNAi ...... hereditary spastic paraplegia
@en
P2093
Andrej Shevchenko
Anne-Kristin Heninger
Christian Confavreux
Cécilia Marelli
Emeline Mundwiller
Fabienne Prieur
Jean Philippe Camdessanche
Joan Teyra
Jérémy Truchetto
P2860
P304
P3181
P356
10.1371/JOURNAL.PBIO.1000408
P407
P577
2010-01-01T00:00:00Z