Figure 2 The K19del mutation affects the expression and solubility of CHP1 The K19del mutation affects the expression and solubility of CHP1 (A) Western.

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Figure Pedigrees of the SCA42 families identified in this study

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Figure 4 K19del mutation alters CHP1 association into functional complexes, impairs NHE1 membrane targeting, and potentially compromises protein conformational.

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

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 3 Pedigree of familial idiopathic transverse myelitis

Figure 1 Imaging, histopathology, and molecular evaluation of case 1 with definite leptomeningeal angiomatosis Imaging, histopathology, and molecular evaluation.

Figure 1 Box plot of the venous diameter in lesions

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 5 Chp1 downregulation in zebrafish leads to CaP-MN, cerebellar, and movement defects rescued with WT, but not mutant CHP1 mRNA Chp1 downregulation.

Figure 2 Anti-LINGO-1 (Li81) does not affect cytokine production

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure Pedigree of the family

Figure 3 Transcripts of the splicing mutation (c

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.

Fig. 1. Muscles of LAMA2 MD patients and dyW/dyW mice contain high amounts of laminin-α4 and show deficits in BM. Muscles of LAMA2 MD patients and dyW/dyW.

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 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 5 Neurite structure is not disrupted by the lack of neurofilament light (NEFL)‏ Neurite structure is not disrupted by the lack of neurofilament.

Znf217 overexpression promotes increased cell motility and aberrant epithelial marker expression. Znf217 overexpression promotes increased cell motility.

Figure 3 Transport activity of human SLC25A4 and SLC25A4 p.Lys33Gln

Posttranscriptional Crossregulation between Drosha and DGCR8

Figure 2 Linkage analysis of chromosome 19

Figure 3 Mutation carrier–derived lymphoblastoid cell lines (LCLs) show decreased aconitase 2 activity and mitochondrial respiration deficiency compared.

Figure 1 The de novo p.Lys33Gln mutation leads to OXPHOS defect in muscle The de novo p.Lys33Gln mutation leads to OXPHOS defect in muscle (A) Histopathologic.

Keratinocyte growth factor promotes goblet cell differentiation through regulation of goblet cell silencer inhibitor Dai Iwakiri, Daniel K. Podolsky

Figure 4 Relative abundances of the order Clostridiales and its family members are differentially changed by therapy Relative abundances of the order Clostridiales.

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.

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 Anti-LINGO-1 (Li81) has no effect on activated T-cell proliferation Anti-LINGO-1 (Li81) has no effect on activated T-cell proliferation (A) Western.

Figure 6 Cellular composition after tissue dissociation

USP2a overexpression modifies the microRNA expression profile of prostate cells. USP2a overexpression modifies the microRNA expression profile of prostate.

Figure 1 Histamine flare in patients and controls

Figure 2 SORL1 mutants' overexpression increases β-amyloid secretion

Figure 2 Longitudinal relationship between CSF glucose and protein changes Longitudinal relationship between CSF glucose and protein changes Delta glucose.

Figure 2 Identification of a heterozygous mutation in POLR3F, protein structure, and pedigree Identification of a heterozygous mutation in POLR3F, protein.

Figure 1 Annualized percentage brain volume change

mTORC1- and mTORC2-activating mutations in MTOR and RHEB

Figure 4 CHCHD2 but not TOP1MT expression rescues molecular defects

Figure 3 Mice with antibodies to NMDARs have decreased hippocampal total protein levels of NMDARs Mice with antibodies to NMDARs have decreased hippocampal.

HSP90β interacts with HNF4A to regulate protein half-life.

Figure 4 DNM1 mutations affect protein levels and self-dimerization (A) HeLa cells were transfected with green fluorescent protein (GFP)-tagged mutant.

Figure 1 bvFTD PINBPA network

Figure 2 Seizure outcomes

JAK3A572V mutation causes constitutive JAK3 activity and IL-2–independent proliferation of NKTCL cells. JAK3A572V mutation causes constitutive JAK3 activity.

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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 2 Immunoblotting of erythrocyte membranes, lymphoblastoid cells, and co-immunoprecipitants Immunoblotting of erythrocyte membranes, lymphoblastoid.

Figure 3 C5B3 blocked MAC formation

Figure 2 LMNB1 mRNA expression

Figure 3 Within-group comparisons (before–after)‏

Figure 2 Between-group comparisons

Fig. 8 C9orf72 knockdown results in an increase in autophagic flux.

Figure 1 Toxic factors are enriched in Ex-En fractions prepared from MS B-cell Sup by water exclusion precipitation Toxic factors are enriched in Ex-En.

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.

Fig. 5 C9orf72 knockdown disrupts autophagy induction.

Levels and activity of c-myc are increased in a series of stably transfected DAOY and UW228 medulloblastoma cell lines. Levels and activity of c-myc are.

Fig. 6 The C9ORF72/SMCR8 complex regulates ULK1.

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.

Figure 4 Western blotting

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Figure 2 The K19del mutation affects the expression and solubility of CHP1 The K19del mutation affects the expression and solubility of CHP1 (A) Western blot (WB) from HEK293T lysates transiently expressing CHP1-WT-V5, CHP1-K19del-V5, or empty V5-vector (control) collected 24, 48, and 72 hours after transfection. Protein lysates were probed with antibodies against V5 to detect CHP1-WT and mutant proteins, and GAPDH as loading control. Expression of CHP1-K19del-V5 is almost undetectable after 72 hours. The graph represents quantification of CHP1 relative expression over different time points. Bars show the mean ± SEM. (B) Determination of CHP1-WT-V5 and K19del-V5 transcripts by semiquantitative RT-PCR. The graph represents quantification of CHP1-V5 transcripts normalized to HPRT expression. Bars show the mean ± SEM. Negligible differences were observed between WT and CHP1-K19del transcripts. (C) Subcellular fractionation of protein lysates from HEK293T transiently overexpressing CHP1-WT-V5 or CHP1-K19del-V5 48 hours after transfection. Lysates were separated into soluble (cytoplasmic) and insoluble (cytoskeletal) fractions by differential lysis and centrifugation. Representative WB from total lysates and fractions were probed with V5 antibodies to detect CHP1-WT and mutant proteins. HSP90 and Vimentin were used as enrichment markers for soluble and insoluble fractions, respectively. Graphs represent quantification of relative expression of CHP1 in the soluble and insoluble fractions. Bars show the mean ± SEM from 3 independent blots. “*” denotes statistical significance (p ≤ 0.05 two-tailed Student t test) between CHP1-WT and CHP1-K19del expression. GAPDH = glyceraldehyde 3-phosphate dehydrogenase; HPRT = hypoxanthine-guanine phosphoribosyltransferase; WT = wild type. Natalia Mendoza-Ferreira et al. Neurol Genet 2018;4:e209 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology