Figure 4 CHCHD2 but not TOP1MT expression rescues molecular defects

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Figure Pedigrees of the SCA42 families identified in this study
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Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)
Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.
Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.
Figure 3 Pedigree of familial idiopathic transverse myelitis
Figure 2 Medial occipital lobe (designated by visual cortical brain regions) hypometabolism in anti–NMDA receptor encephalitis Medial occipital lobe (designated.
Figure 1 Box plot of the venous diameter in lesions
Figure 2 Needle biopsy of the left vastus lateralis
Figure 3 Immunohistochemical analyses of positive and negative Epstein-Barr virus (EBV) control tissues using immunostaining Immunohistochemical analyses.
Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.
Figure Sural nerve electron microscopy
Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.
Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.
Figure 1 Comparison of miR-150-5p (log scale), prednisone dose (mg), and QMG score between the thymectomy (ETTX) and prednisone groups Comparison of miR-150-5p.
Figure 4 Mitochondrial respiration is affected in lymphoblastoid cell lines (LCLs) of ACO2 mutation carriers Mitochondrial respiration is affected in lymphoblastoid.
Figure Pedigree of the family
Figure 4 Detection of EBER+ cells in MS and control brains by in situ hybridization Detection of EBER+ cells in MS and control brains by in situ hybridization.
Figure 3 Complete loss of neurofilament light (NEFL) protein in cultured patient neurons Complete loss of neurofilament light (NEFL) protein in cultured.
Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.
Figure 2 Correlation between total IgG levels and anti-AQP4 IgG titer
Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.
Figure WDR45 sequence changes in patients A and B
Figure 3 Temporal trends in FALS incidence
Table 4 Associations in SNP array data between the Braak stage and previously known AD risk loci (341 variants) comparing participants with Braak stage.
Figure 1 All patients with pediatric genetic movement disorders, their genetic diagnoses, and type of genetic investigations All patients with pediatric.
Figure 5 Neurite structure is not disrupted by the lack of neurofilament light (NEFL)‏ Neurite structure is not disrupted by the lack of neurofilament.
Figure 3 Transport activity of human SLC25A4 and SLC25A4 p.Lys33Gln
Figure 2 Linkage analysis of chromosome 19
Figure 1 White matter lesion central vein visibility in MS and absence in small vessel disease (SVD)‏ White matter lesion central vein visibility in MS.
Figure 3 Mutation carrier–derived lymphoblastoid cell lines (LCLs) show decreased aconitase 2 activity and mitochondrial respiration deficiency compared.
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Figure Family tree with the HLA haplotyping of 6 members of the family
Figure 1 Family pedigree and MRI
Figure Fundoscopic examination of the VZV-infected left eye over time
Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.
Figure 2 Functionally significant genes
Table 2 Rs number, gene, OR, 95% CI, and permutation p value for the statistical significant variants resulted from allelic association analysis association.
Figure 1 Family pedigree and DNA sequencing results
Figure 4 Voltage-clamp recordings of KCNJ18 carrying the patient's SNVs expressed in Xenopus laevis oocytes under control conditions and after application.
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Figure Alluvial plot of modified Rankin Scale (mRS) scores during and at the end of hospital stay Alluvial plot of modified Rankin Scale (mRS) scores during.
Figure 3 Voltage-clamp recording of the wild-type KCNJ18 (left) and the KCNJ18 carrying the patient's SNVs (right) expressed in Xenopus laevis oocytes.
Figure 1 Responder rates of patients at 4 weeks compared with prevaccinated levels Responder rates of patients at 4 weeks compared with prevaccinated levels.
Figure 1 Pedigree and genetic findings
Figure 1 Histamine flare in patients and controls
Figure 2 Changes in fatigue under treatment
Figure 1 Considerations for concussed athletes leading to medical care or return to sport (RTS)‏ Considerations for concussed athletes leading to medical.
Figure 2 Longitudinal relationship between CSF glucose and protein changes Longitudinal relationship between CSF glucose and protein changes Delta glucose.
Figure 2 Global tau-PET distribution in familial prion disease mirrors the distribution seen in Alzheimer disease Global tau-PET distribution in familial.
Figure 2 Kaplan-Meier survival graphs for 10-year risks of overall and post-90-day recurrent ischemic stroke (IS) and death Kaplan-Meier survival graphs.
Figure 1 Stacked bar chart depicts the proportion of patients with diffusion-weighted imaging (DWI)+ and DWI− scans categorized by index event type TIA.
Figure 1 Annualized percentage brain volume change
Figure 2 Repopulation of CD19+ cells in low and high BSA patients and calculation of the BSA Repopulation of CD19+ cells in low and high BSA patients and.
Figure 1 bvFTD PINBPA network
Figure 2 Seizure outcomes
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Figure 2 Pedigrees of families and segregation analysis of variants c
Figure Lysosome dysfunction observed in patient-derived fibroblasts with the TMEM106B p.Asp252Asn substitution Lysosome dysfunction observed in patient-derived.
Figure 3 C5B3 blocked MAC formation
Figure 2 LMNB1 mRNA expression
Figure 3 Within-group comparisons (before–after)‏
Figure 2 Between-group comparisons
Figure 2 Time from incident ADS event to MS diagnosis
Figure 4 Venn diagram for B-cell Sup proteins compared with proteins from exosome-enriched fractions from a human B-cell line Venn diagram for B-cell Sup.
Figure 2 Patient-derived recombinant MuSK antibodies can activate or inhibit MuSK phosphorylation and AChR clustering depending on the antibody valency.
Figure 3 A receiver operating characteristic curve of days to IVMP as a predictor of failure to regain 0.2 logMAR (20/30) vision (AUC 0.84, p < 0.001)‏
Figure 3 Patient cells show impaired OXPHOS complex levels and function Patient cells show impaired OXPHOS complex levels and function (A) SDS-PAGE and.
Figure (A and B) Effect of canakinumab in muscle strength measured in each patient as mean bilateral GF (A) and TMS (B) during the mean study period of.
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Figure 4 CHCHD2 but not TOP1MT expression rescues molecular defects CHCHD2 but not TOP1MT expression rescues molecular defects (A) Mitochondrial morphology of control and patient fibroblasts, in the presence or absence of either wild-type CHCHD2 or wild-type TOP1MT, was examined using MitoTracker Orange and visualized by fluorescence microscopy. The scale bar represents 10 µm. Arrows indicate refractile granules characteristic of network fragmentation. (B) Oxygen consumption of respiratory complexes was measured in control, patient fibroblasts, and patient fibroblasts expressing either wild-type CHCHD2 or wild-type TOP1MT using an OROBOROS respirometer. Data are presented as mean ± SEM and were analyzed using a Student's t test. *p < 0.05, **p < 0.01. Richard G. Lee et al. Neurol Genet 2018;4:e276 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.