Clearance of myelin basic protein.

<p>A. Western blot of myelin basic protein and GAPDH of representative distal sciatic nerve lysates. Each column represents an animal. I = intact nerve B. Ratio of MBP to GAPDH density from the Western blot in A. Note that the intact ratio is for scale only, since it is not replicated. n.s = not significant (p>0.05 by ANOVA). Error bars are SEM. n = 3, 2, 3, 3 animals for Rag^-/-, Prkdc^-/-, Foxn1^-/-, wild type.</p

Macrophage infiltration.

<p>A. Macrophage staining in widefield epifluorescent images (43x) of longitudinal sections of one-week denervated sciatic nerves in immunodeficient and wild type control animals. Intact nerve was not denervated. Top row: F4/80 (macrophage; red) staining only. Arrows highlight F4/80 positive cells. Second row: Macrophage staining merged with Schwann cell staining (α-S100β; green) and nuclear labeling with DAPI (blue). B. Quantitation of macrophages per high powered field, relative to total cell number. No significant difference among the five groups by ANOVA. n = 3 animals for Rag^-/-, Foxn1^-/-, WT, n = 2 animals for Prkdc^-/-. n = 1 animal for intact (for visual comparison only). Error bars are SEM.</p

Animal models of immunodeficiency.

<p>Animal models of immunodeficiency.</p

Immunodeficency and degeneration.

<p>A. Axonal staining in widefield epifluorescent images (20x) of longitudinal sections of one-week denervated sciatic nerves. Intact nerve is not denervated. Red: α-β-III-tubulin; Blue: DAPI. B. Transmitted light images (20x) of thick plastic sections of toluidine blue stained sciatic nerve cross sections. C. Quantification of the axon density in the denervated tibial nerve in comparison to an intact nerve in the images in the toluidine blue stained sections. Error bars are SEM. * = p<0.05 by ANOVA with Tukey’s post-hoc analysis, α = 0.05. n = 3 animals for WT, Rag^-/-, Foxn1^-/-, and n = 2 for Prkdc^-/-. Intact nerve is included for relative comparison only, with only one sample represented. Statistical comparison to the intact nerve by 95% confidence interval with a Student’s t-distribution, α = 0.05.</p

Immunocytochemistry of cell lines Schwannomatosis cell lines express the Schwann cell marker S100B and do not express the fibroblast marker Thy-1.

<p>Fibroblast cells stain positive for Thy-1. Green is a positive antibody test; blue is a DAPI nuclear stain.</p

Schwannomatosis cell lines maintain Schwann cell characteristics after passaging and freezing.

<p>Primary Human Schwann cells and immortalized Hp-SWN-14F (at passage 6 exhibit similar growth rates and expression of S100B. Hnp-SWN-14O retains S100B staining and Schwann cell properties at passage 11.</p

Schwannomatosis Cell line and Parent Tumor characteristics.

<p>Schwannomatosis cell line Hp-SWN-14F and its parent tumor s express Schwann cell markers, p75/NGFR, S100B, and NGF as determined by RT-PCR.</p

Expression of cell cycle regulators in SWN cell lines and primary human Schwann cells in culture.

<p>Several cell cycle related genes were differentially expressed in a SWN cell line compared with parent tumor by microarray. qPCR comparison of Primary Human Schwann Cells and Immortalized Hp-SWN-14F cell line suggest that the alterations in expression are due to active growth during cell culturing.</p

Additional file 1: Figure S1. of GDE2 is essential for neuronal survival in the postnatal mammalian spinal cord

Sensory neurons exhibit neurodegenerative pathology without impaired nerve conduction in the absence of Gde2. This figure illustrates the presence of neuropathology in the primary sensory neurons of the Gde2 KO, including vacuolization, lipid accrual, and cytoskeletal accumulation; and the maintenance of peripheral sensory nerve conduction. Figure S2-related to Fig. 9. Conditional ablation of Gde2 in the postnatal spinal cord prevents the developmental loss of motor neurons. This figure confirms the effective conditional ablation of Gde2 following neurogenesis. In the constitutive KO, GDE2’s absence during embryonic neurogenesis causes a reduction of alpha motor neurons in the lateral motor column; however, in the Gde2lox/-; ROSA:CreER animals, this loss is avoided by injecting 4-OHT at E17.5. Further, competitive PCR analysis shows a near complete deletion of the conditional Gde2 allele following 4-OHT delivery. Figure S3. Gde2 deletion does not perturb neuromuscular junction morphology. This figure uses wholemount immunohistochemistry to assess the integrity of the neuromuscular junction (NMJ) in aged Gde2 KO hindlimb muscle. At 19 months, no discernible pathology is present in the Gde2 KO NMJ. (DOCX 6586 kb

A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems - Fig 6

<p><b>A</b>. Brains from wild type (left) and <i>frogleg</i> (right) were of similar size. Scale is in centimeters. <b>B</b>. Brain weights, however, differed in wild type (+/+) and homozygote (<i>frogleg</i>) rats of 4 weeks, 10 weeks and 7 months of age, being considerably smaller in the <i>frogleg</i> rats compared to their littermates at all ages tested (mean+SEM).</p