EMBO/SourceData huggingface dataset:
Figure legend: "(H) GFP-TDP-43  expression was induced with DOX  for 4 h before crosslinking protein-protein interactions with DSG  and subsequent analysis by  western blot. *, ** and *** indicate GFP-TDP-43 monomers, dimers and trimers, respectively. o, oo, ooo and oooo indicate endTDP-43 monomers, dimers, trimers and tetramers. ­­­(I) Quantification of GFP-TDP-43 dimer/monomer ratio based on the GFP  signal from H. N=3 independent experiments. Repeated measures one-way ANOVA with Greenhouse-Geisser correction and Tukey's multiple comparisons post hoc test. * p&lt;0.05, ** p&lt;0.01, **** p&lt;0.0001. Graph bars represent mean ± SD."
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(G) Quantification of the nuclear PLA  signal shown in F correlated to the protein expression  levels of the different TDP-43 variants, measured as the mean GFP  fluorescence. N=11-13 cells."
NCBI gene IDs:
"TDP-43: 23435"
Figure legend: "(E) Representative confocal microscopy images of the isogenic HEK293  lines expressing the different GFP-TDP-43 variants for 24 h and stained  for the  Cajal body  marker coilin. Scale bar: 5 µm. (F) Representative  confocal microscopy images of the isogenic HEK293  lines expressing the different GFP-TDP-43 variants for 24 h and hybridized with a fluorescent NEAT1  probe to mark the paraspeckles. Scale bar: 5 µm."
NCBI gene IDs:
"GFP: 
NEAT1: 283131
TDP-43: 23435"
Figure legend: "(A) Volcano plots showing alternative splicing (AS) events upon expression  of GFP-TDP-43 variants for 48 h."
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(E) Western blot  analysis of the isogenic HEK293  after GFP-TDP-43 expression for 48 h showing that only the WT variant regulates endTDP-43  levels. (F) Quantification of the endTDP-43  signal from E. N=4 independent experiments. Two-way ANOVA with Tukey's multiple comparisons post hoc test."
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(G) Tripartite GFP  complementation assay involving the co-transfection of a pair of N-terminally T10- and T11-tagged  TDP-43 constructs in HeLa  cells subjected to arsenite  stress for 30 min and incubated with recombinant  GFP1-9 after fixation to label T10- and T11-TDP-43 dimers. TriFC: trimolecular fluorescence complementation. Scale bar: 10 µm. (H) Quantification of the  trimolecular fluorescence complementation  (triFC) signal of GFP  in the TIA-1-marked SGs  from the images shown in G. N=3 independent experiments. Repeated measures one-way ANOVA with Greenhouse-Geisser correction and Tukey's multiple comparisons post hoc test."
NCBI gene IDs:
"TDP-43: 23435"
Figure legend: "(I) Expression of GFP-TDP-43 mutNLS variants was induced with doxycycline  (DOX) for 4 h before crosslinking protein-protein interactions with DSG  and subsequent analysis by western blot. * and ** indicate GFP-TDP-43 monomers and dimers, respectively. (J) Quantification of the GFP  signal from I. N=3 independent experiments. Repeated measures one-way ANOVA with Greenhouse-Geisser correction and Tukey's multiple comparisons post hoc test."
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(K) After expression of GFP-TDP-43 mutNLS variants for 48 h, the isogenic lines were treated with DSG  to cross-link protein-protein interactions  before performing nucleocytoplasmic fractionation and  western blot analysis. * and ** indicate GFP-TDP-43 monomers and dimers, respectively."
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(A) Representative  confocal microscopy images of the isogenic GFP-TDP-43  lines after 48 h of expression, treated with the proteasome  inhibitor MG132  for the last 24 h and stained  for lamin B  to mark the nuclear envelope. Note the different localization  of  TDP-43 inclusions in the oligomerization- (6M and 6M&amp;RRMm) versus RNA binding-deficient (RRMm) variants. Scale bar: 20 µm (5 µm for inset). (B) Quantification of the localization  of GFP-TDP-43 inclusions after MG132  treatment for the different variants in the isogenic HEK293  lines as shown in A. Represented values are averages from N=3 independent experiments, with N=189-497 cells quantified per condition and replicate."
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(C) Representative maximum intensity Z-projections from confocal  fluorescence imaging (thickness of 4 µm, in steps of 1 µm) of human neurons  transduced with TDP-43-HA  variants and treated overnight with the proteasome  inhibitor MG132. Scale bar: 10 µm. (D) Quantification of the differentially localized TDP-43-HA  inclusions in human neurons  as described in C. Represented values correspond to the quantification of N=85-97 neurons from two independent experiments. Nuclei  are stained  with DAPI  The neuron-specific marker MAP2  is shown in magenta or cyan"
NCBI gene IDs:
"HA: 
TDP-43: 23435"
Figure legend: "(E) Representative maximum intensity Z-projections from confocal  fluorescence imaging (thickness of 4 µm, in steps of 1 µm) of the same experimental conditions as shown in A, with the addition of a DMSO  control for MG132  treatment. GFP-TDP-43-expressing cells were double immunolabeled  for TDP-43 phosphorylated at the S403/404 and S409/410 epitope. Note the absence of phospho-S409/410 immunopositivity in all conditions and positivity for phospho-S403/404 in cytoplasmic  inclusions and a subset of nuclear GFP-TDP-43  RRMm inclusions (appointed by arrowheads). Scale bar: 10 µm. Nuclei are stained  with DAPI"
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(F-G) Representative maximum intensity Z-projections from confocal  fluorescence imaging (thickness of 4 µm, in steps of 1 µm) of the same experimental conditions as shown in C, with the addition of a DMSO  control. TDP-43-HA  expressing human neurons  were stained  for either phospho-S403/404 (F) or phospho-S409/410 (G). Scale bar: 10 µm. Note the re-localization  of the phospho-S403/404 signal from neuronal nuclei  to inclusions (F) and the presence of phospho-S409/410 signal in only a subset of aggregate-bearing neurons  (G). Nuclei  are stained  with DAPI  The neuron-specific marker MAP2  is shown in magenta or cyan"
NCBI gene IDs:
"HA: 
TDP-43: 23435"
Figure legend: "(D) Representative  confocal microscopy  images of the isogenic GFP-TDP-43 lines at the endpoint (24 h) of MG132  treatment of the experimental conditions described in Figure 7A and stained  for vimentin. Scale bar: 5 µm. Cell nuclei are visualized with DAPI"
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(E) Representative confocal microscopy images of the isogenic GFP-TDP-43  lines at the endpoint (24 h) of MG132  treatment of the experimental conditions described in Figure 7A and stained  for p62. Cell nuclei  are visualized with DAPI"
NCBI gene IDs:
"GFP: 
TDP-43: 23435"
Figure legend: "(a) PC12 cells stably expressing A53T mutant α-synuclein were induced for 24 h, after which expression was switched off by removing doxycycline from the medium for the next 24 h. Transgene product clearance can be inferred by assessing levels at various times after switching off expression after an initial induction period, as expression levels decay when synthesis is reduced or stopped. Cells were treated with EHNA or AMP-PNP or left untreated during the switch-off period. Blots were probed with antibody to HA to detect the transgene and antibody to actin as a loading control."
NCBI gene IDs:
"α-synuclein: 6622"
Figure legend: "(b) PC12 cells expressing Q74-GFP were induced for 15 h and then treated with inhibitors for 48 h after switch-off. Band intensity quantification (three independent experiments) is shown."
NCBI gene IDs:
"Q74: 3064"
Figure legend: "(c) Immunofluorescence images of cells expressing Q74-GFP after 48 h of switch-off after treatment with (EHNA) or without (Control) EHNA."
NCBI gene IDs:
"Q74: 3064"
Figure legend: "(d) Quantification of aggregates and cell death in COS-7 cells transiently transfected with Q74-GFP either with (EHNA) or without (Control) EHNA (added during the last 33 h before fixation)."
NCBI gene IDs:
"Q74: 3064"
Figure legend: "(e) Western-blot analysis of HeLa cells stably expressing GFP-UbG76V treated with lactacystin (Lac), EHNA or AMP-PNP or left untreated (Control) using antibody to GFP. ***P 0.0001; **P 0.001."
NCBI gene IDs:
"Ub: 7316///7314"
Figure legend: "(a) Stable PC12 cells expressing A53T α-synuclein were induced for 24 h, after which expression was switched off and cells were simultaneously transfected with p50 or dynamitin (p50), CC1, CC2, motor domain-deleted kinesin heavy chain (ΔM-KHC) or the tail region of kinesin heavy chain (DN-KHC) for the next 24 h. Dominant-negative constructs along with pEGFP-C1 (3:1 ratio of dominant-negative construct:pEGFP-C1) were used to transfect cells, and FACS was used to select transfected cells, which were analyzed by western blotting as in Figure 1a. Quantification of the band intensity from multiple experiments (three independent experiments for dynein mutants and two for kinesin mutants) is shown. ***P 0.0001; *P 0.01; NS, not significant."
NCBI gene IDs:
"C1: 
kinesin: 
dynamitin: 10540
p50: 10540
α-synuclein: 6622"
Figure legend: "(b) COS-7 cells were cotransfected with HA-Q74 or GFP-Q74 with empty vector (pEGFP or pcDNA3.1), p50 or dynamitin (p50), p62 subunit of dynactin complex (p62), the tail region of kinesin heavy chain (DN-KHC), CC1 or CC2 for 48 h, after which the cells were fixed for immunofluorescence and immunocytochemistry (using to antibody to HA). The percentage of GFP-positive cells with aggregates and cell death is shown. ***P 0.0001; **P 0.001; NS, not significant."
NCBI gene IDs:
"kinesin: 
pcDNA3.1: 
dynamitin: 10540
p50: 10540
p62: 51164
Q74: 3064"
Figure legend: "(c) Immunocytochemistry analysis (using antibody to HA) of COS-7 cells cotransfected for 48 h with HA-Q74 (red) and pEGFP or p50 (green). Panels on left are magnifications of boxed areas in second panels. The boxes are the same size. ***P 0.0001; **P 0.001. Examples of fragmented nuclei in cells overexpressing p50 and nuclei in cells overexpressing p50 but treated with Z-VAD-fmk (broad-spectrum caspase inhibitor) are shown in Supplementary Figure 4 online."
NCBI gene IDs:
"p50: 10540
Q74: 3064"
Figure legend: "(a) Immunofluorescence analysis of COS-7 cells cotransfected for 15 h with either empty vector (control) or CC1 and GFP-LC3 (green), in a 3:1 ratio. Panels on right are magnifications of boxed areas."
NCBI gene IDs:
"CC1: 1639"
Figure legend: "(c) NRK cells transiently transfected for 15 h with either empty vector (control) or CC1 and GFP-LC3 (green), in a 3:1 ratio were immunostained with antibody to lgp120, and the numbers of GFP-LC3 and lgp120 doubly stained vesicles in individual cells were scored."
NCBI gene IDs:
"CC1: 1639"
Figure legend: "Frequencies of ommatidia with different numbers of rhabdomeres are shown at 3 days after eclosion in progeny of flies expressing mutant huntingtin exon 1 (gmrQ120) crossed to either a control stock (w1118; W) or to Dhc64C (dynein heavy chain mutant; Dhc; a) or Roblk (dynein light chain mutant; Robl; b) flies. P ≤ 0.0001 (Mann-Whitney U test)."
NCBI gene IDs:
"Dhc64C: 38580
huntingtin: 3064
Robl: 36963"
Figure legend: "(c) Ommatidia from the progeny of flies expressing mutant huntingtin exon 1 (Q120) crossed with either control stock (w1118; W) or with Dhc64C (Dhc) flies. All fly experiments were repeated three times independently with similar significance levels. One representative experiment is shown."
NCBI gene IDs:
"Dhc64C: 38580
huntingtin: 3064"
Figure legend: "(a) Tremor onset and severity in a mouse model of Huntington disease are enhanced by the Loa mutation. At 7 weeks: HdhHD/+ Dnchc1Loa/+ n = 9, HdhHD/+ Dnchc1+/+ n = 9, P = 0.14. At 9 weeks: HdhHD/+ Dnchc1Loa/+ n = 8, HdhHD/+ Dnchc1+/+ n = 9, P = 0.027. At 11 weeks: HdhHD/+ Dnchc1Loa/+ n = 6, HdhHD/+ Dnchc1+/+ n = 9, P = 0.001. At 13 weeks: HdhHD/+ Dnchc1Loa/+ n = 5, HdhHD/+ Dnchc1+/+ n = 8, P = 0.021. At 15 weeks: HdhHD/+ Dnchc1Loa/+ n = 3, HdhHD/+ Dnchc1+/+ n = 5, P = 0.021."
NCBI gene IDs:
"Dnchc1: 13424
Hdh: 3064"
Figure legend: "(b,c) Dynein mutation reduces motor coordination and muscle function in a mouse model of Huntington disease. HdhHD/+ Dnchc1Loa/+, HdhHD/+ Dnchc1+/+ and Hdh+/+ Dnchc1Loa/+ mice are shown. An average of six mice were used at every time point, with at least three mice per group after 13 weeks. (b) Grip strength. Overall effect for all time points between the three genotypes: P = 0.0024. Overall pair comparison between HdhHD/+ Dnchc1Loa/+ and HdhHD/+ Dnchc1+/+: P = 0.001. Overall pair comparison between HdhHD/+ Dnchc1Loa/+ and Hdh+/+ Dnchc1Loa/+: P = 0.0157. Effect at each time point between the three genotypes: 7 weeks, P = 0.023; 9 weeks, P = 0.001; 11 weeks, P 0.0001; 13 weeks, P = 0.004; 15 weeks, P = 0.336 (most of the double mutants were dead by 15 weeks). (c) Accelerating rotarod. Overall effect for all time points between the three genotypes: P = 0.0367. Overall pair comparison between HdhHD/+ Dnchc1Loa/+ and HdhHD/+ Dnchc1+/+: P = 0.0245. Overall pair comparison between HdhHD/+ Dnchc1Loa/+ and Hdh+/+ Dnchc1Loa/+: P = 0.0553. Effect at each time point between the three genotypes: 8 weeks, P 0.001; 10 weeks, P = 0.005; 12 weeks, P = 0.001; 14 weeks, P = 0.009; 16 weeks, P = 0.039."
NCBI gene IDs:
"Hdh: 
Dnchc1: 13424
Hdh: 3064"
Figure legend: "(d) Reduced lifespan of HdhHD/+ Dnchc1Loa/+ mice. HdhHD/+ Dnchc1Loa/+ (red line) n = 13, HdhHD/+ Dnchc1+/+ (green line) n = 9, P = 0.038. Mice were subjected to humane end points, and so the survival curve reflects the onset of the end points rather than the complete lifespan. Asterisks (*) represent mice that were found dead without reaching humane end points. No mortality of Hdh+/+ Dnchc1Loa/+ mice was observed."
NCBI gene IDs:
"Dnchc1: 13424
Hdh: 3064"
Figure legend: "(a) Brain sections from HdhHD/+ Dnchc1+/+ or HdhHD/+ Dnchc1Loa/+ mice were stained with antibody to huntingtin (EM48; green). No EM48-stained aggregates were detected in brains of Hdh+/+ Dnchc1Loa/+ mice. Arrows indicate cells with aggregates."
NCBI gene IDs:
"Dnchc1: 13424
Hdh: 3064"
Figure legend: "(b) Western-blot analysis of mouse brain lysates from wild-type (WT) or Loa mutant mice using antibodies to LC3 and to actin."
NCBI gene IDs:
"Loa: "
Figure legend: "Balb/C mice were aerosolically challenged with Rv, Rv∆aosR, and Rv∆aosR::aosR strains. Each data point represents log10 CFU obtained from the infected lung of mice and e­rror bar depicts the median with interquartile range for each group. Each data point represents log10 CFU obtained from the infected spleen of a mice and the error bar depicts the mean with SD for each group."
NCBI gene IDs:
"aosR: 886901"
Figure legend: "Relative gene expression of selected DEGs measured by qRT-PCR in Rv compared with Rv treated with CHP (g) and Rv as compared with Rv∆aosR under oxidative conditions (h). Data were normalized with respect to 16s rRNA and results are expressed as mean log2 fold change + SD of three independent replicates and is representative of one of two biological replicates."
NCBI gene IDs:
"aosR: 886901"
Figure legend: "WCLs of Rv, Rv∆aosR, and Rv∆aosR::aosR subjected to 0 or 50 µM of CHP for 6 h were resolved on 15% SDS-PAGE, transferred to nitrocellulose membrane, and probed with indicated antibodies."
NCBI gene IDs:
"aosR: 886901"
Figure legend: "The promoter of sigA and mec was fused to luciferase, and transformed cells were either left untreated or exposed to CHP stress for 6 h and luciferase activity was measured (mean ±SD; n=6)"
NCBI gene IDs:
"luciferase: 
mec: 886875
sigA: 887477"
Figure legend: "Indicated bacterial strains were subjected to oxidative stress with 50 µM CHP for 6 h and free thiol content was quantified. Data presented is representative of one of two biological replicates, each performed in triplicates (n=3). Y-axis represents µM thiol /µg of WCL (mean ± SD). Metabolite levels of reduced mycothiol, MSH ergothioneine, ERG were measured in Rv, Rv∆aosR, and Rv∆aosR::aosR in normal and CHP stressed cells using LC-MRM MS/MS analysis. The absolute values obtained under normal conditions were normalized to 100% for each strain and the relative values were calculated for samples processed from CHP treated cells. The data indicates relative levels of metabolites (mean percent ± SD) of four replicates (n=4)."
NCBI gene IDs:
"aosR: 886901"
Figure legend: "qRT-PCR measurements for the log2 fold induction (mean ±SD, n=3) for indicated genes in Rv∆aosR and Rv∆aosR treated with 1mM L-cysteine as compared with Rv. All strains were treated with 50 μM CHP. Data were normalized with respect to 16s rRNA and is representative of one of two biological replicates."
NCBI gene IDs:
"16s rRNA: 886243
aosR: 886901"
Figure legend: "(A) Western blotting analysis confirmed HMCES knockout in 293A cells (293A HMCES KO). Blots also included knockout cells reconstituted with WT SFB- HMCES."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(B, C) Colony-forming capacity of HMCES KO cells was compared to that of control wild-type 293A cells. (C) Box plot showing colony forming efficiencies of 293A wild-type control and HMCES KO cells. Box limits represent 25th and 75th percentile, centerline shows the median and whiskers extend minimum to maximum. Data include more than three independent repeats performed in duplicates. Student's t-test were performed for statistical analysis (****, p&lt;0.0001). "
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(D) Colonogenic survival assay of 293A wild-type control and HMCES KO cells treated with various concentrations of hydroxyurea (HU) was shown. Seeding density with respect to control was indicated below each image. The images shown are representative of three biological repeats, each performed in duplicate."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(E) Quantification showing survival fraction of wild-type control (WT) and HMCES KO cells upon HU treatment. Data are presented as mean±s.e.m (n=3, each performed in duplicates) and student's t-test were performed for statistical analysis (ns, not significant; *, p&lt;0.05)."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(F) Quantification of colonogenic survival assay upon exposure of WT and HMCES KO cells to ionizing radiation (IR). Data are presented as mean±s.e.m. Quantifications are from three biological repeats performed in duplicates. Student's t-test was performed for statistical analysis (*, p&lt;0.05; **, p&lt;0.01)."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(G, H) Sensitivity assay and quantification of surviving WT control and HMCES KO cells determined by colony-forming assay upon exposure to H2O2. Experiments were repeated three independent times, each time performed in duplicates and data are presented as mean±s.e.m. Statistical significance for the corresponding experiment was analyzed by student's t-test (*, p&lt;0.05)."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(I) Bar graph showing sensitivity of WT, HMCES KO and stably reconstituted WT cells towards H2O2 treatment. Experiment was repeated two independent times with technical repeats."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(A, B) Colonogenic assays were performed by adding increasing concentrations of pemetrexed to control wild-type (WT) 293A cells and HMCES knockout (HMCES KO) cells (A) and quantification of results were shown (B). Increasing numbers of cells were seeded with increasing concentrations of the compound to obtain optimal drug-dose response curve. Seeding density with respect to control is indicated below each image. The images shown are representative of three biological repeats, each performed in duplicate. (B) Data are presented as mean±s.e.m. and student's t-test was performed for statistical analysis (****, p&lt;0.0001)."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(C) Western blot showing APEX2 levels upon 293A cells infected with viruses encoding scrambled or two independent APEX2 shRNAs."
NCBI gene IDs:
"APEX2: 27301"
Figure legend: "(D) Colony forming assay was performed to indicate colony forming efficiency in 293A and HMCES KO cells upon infection with viruses encoding scrambled or APEX2 shRNAs."
NCBI gene IDs:
"APEX2: 27301
HMCES: 56941"
Figure legend: "(E) Sensitivity assay was conducted with WT and HMCES KO cells upon treatment with AP Endonuclease inhibitor III (APEi). Results are presented from two independent experiments and data are presented as mean±s.e.m."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(F) Colony forming assay was performed with WT and HMCES KO cells upon either pemetrexed treatment alone or in combination with APEi. Data are presented as mean±s.e.m (n=2 each with technical repeats)."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(I) Colony formation assay was conducted to reveal proliferation of WT, POLH KD, REV1 KD, HMCES KO, HMCES KO + POLH KD and HMCES KO +REV1 KD cells."
NCBI gene IDs:
"HMCES: 56941
POLH: 5429
REV1: 51455"
Figure legend: "(J) Representative images showing proliferation of respective shRNA resistant reconstitution of POLH in 293A and HMCES KO cells stably expressing POLH shRNA. Experiment was repeated two independent times in duplicates."
NCBI gene IDs:
"HMCES: 56941
POLH: 5429"
Figure legend: "(K) Mutagenesis frequency analysis was conducted in 293T scrambled and 293T HMCES shRNA cells using sup F shuttle vector-based assay system. Experiments were repeated three independent times and data are presented as mean±s.e.m. Student's t-test was used to calculate statistical significance (**, p&lt;0.01)."
NCBI gene IDs:
"HMCES: 56941"
Figure legend: "(B) Volcano plot showing DDR CRISPR-CAS9 screen for HMCES KO cells. -log10(p-value) is plotted against log2(HMCES KO/ WT) fold change. Genes showing significant positive and negative enrichment are colored in red and top enriched candidates are also labeled."
NCBI gene IDs:
"CAS9: 
CRISPR: 
HMCES: 56941"
Figure legend: "Cell proliferation measured using CellTiter-Glo assay in 293A and HMCES KO cells without or with transfection with viruses encoding CtIP (F) shRNAs. Each experiment was repeated three independent times done in triplicates each time. Data was represented as mean±s.e.m. Student's t-test was used to calculate statistical significance (***, p&lt;0.001; ****, p&lt;0.0001)."
NCBI gene IDs:
"HMCES: 56941
CtIP: 5932"
Figure legend: "Cell proliferation measured using CellTiter-Glo assay in 293A and HMCES KO cells without or with transfection with viruses encoding BRCA2 (G) shRNAs. Each experiment was repeated three independent times done in triplicates each time. Data was represented as mean±s.e.m. Student's t-test was used to calculate statistical significance (***, p&lt;0.001; ****, p&lt;0.0001)."
NCBI gene IDs:
"BRCA2: 675
HMCES: 56941"
Figure legend: "A-C Evidence of microglial phagocytosis of photoreceptors in other mouse models of RP. Histological analysis of a rd1mouseretina (A) demonstrates microglial phagocytosis of photoreceptornuclei in vibratome sections (left) and in flat-mounted retina (right). Phagocytosed nuclei were predominantly negative for TUNEL staining (arrows). Similar findings were found in the retinas of the rd16mouse (loss-of-function mutation in the photoreceptor-expressed CEP290 gene, 1 month old) (B) and the RPGRIP-deficient mouse (6 months old) (C). Scale bar, 20 μm."
NCBI gene IDs:
"CEP290: 216274
RPGRIP: 77945"
Figure legend: "D-G Evidence of microglial phagocytosis of photoreceptors in other human histopathological specimens of RP. (D) Retinal section from a 30-year-old male donor with autosomal recessive RP (AR RP) showing extensive microglial infiltration of the ONL; expanded inset (right) shows multiple photoreceptor nuclei in phagosomes that were predominantly negative for TUNEL staining. (E, F) Retinal sections from two separate donors with autosomal dominant RP (AD RP1 = 68-year-old man, T17M rhodopsin mutation, AD RP1 = 50-year-old woman, Q-64-ter rhodopsin mutation) showing similar evidence of microglial phagocytosis. (G) Retinal section from a 46-year-old male donor with X-linked RP (XL RP). Arrowheads indicate phagocytosed photoreceptor nuclei. Scale bars, 20 μm."
NCBI gene IDs:
"rhodopsin: 6010"