Figure 2 Increased mitochondrial sensitivity to glucose reduction in lymphoblastoid cells from patients with primary lateral sclerosis Increased mitochondrial.

Slides:

Advertisements

Similar presentations

Figure Pedigrees of the SCA42 families identified in this study

Advertisements

Functional analysis of the cytoplasmic domain of the integrin α1 subunit in endothelial cells by Tristin D. Abair, Nada Bulus, Corina Borza, Munirathinam.

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Calcium regulates ERK nuclear association, but not its activation.

TNF-α–mediated bronchial barrier disruption and regulation by src-family kinase activation Michelle A. Hardyman, PhD, Emily Wilkinson, BSc, Emma Martin,

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure 3 Pedigree of familial idiopathic transverse myelitis

Supplementary Figure 1 Oligomycin, 1µM FCCP,

by Kumudha Balakrishnan, William G. Wierda, Michael J

MEL23 and MEL24 inhibit Mdm2 and p53 ubiquitination in cells.

Rapid ubiquitination of Syk following GPVI activation in platelets

Validation cell‐type‐enriched culturing methods, metabolome dynamics, and mitochondria abundance and bioenergetics in differentiating organoids Validation.

by Sansana Sawasdikosol, Kristin M. Russo, and Steven J. Burakoff

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

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer Lamis Yehia, Farshad.

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.

Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome Wen-Bin He, Juan Du, Xiao-Wen Yang,

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

P53 inhibition impairs expansion of HSCs with VPA by increasing ROS levels. p53 inhibition impairs expansion of HSCs with VPA by increasing ROS levels.

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

Figure 1 Mutations in SPG7 in a family with primary lateral sclerosis

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions Henna Tyynismaa,

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Figure 1 Clinical and genetic features of a family with Ile371Lys SYT2

MPG is a substrate of ATM, and phosphorylation of MPG is essential for function. MPG is a substrate of ATM, and phosphorylation of MPG is essential for.

Figure 1 Family pedigree and DNA sequencing results

Volume 127, Issue 4, Pages (October 2004)

Analysis of GFP expression in gfp loss-of-function mutants.

Volume 20, Issue 2, Pages (February 2012)

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

Figure Novel compound heterozygous mutation in the COLQ gene causes congenital myasthenic syndrome Novel compound heterozygous mutation in the COLQ gene.

Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4) Tao Yang, Hilmar Vidarsson,

Figure 1 Pedigree and genetic findings

Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia Mutated CTSF in adult-onset neuronal ceroid.

Figure 3 Pedigrees of 3 multiplex families with NLRP3 mutations and MS The patient numbers refer to the patients listed in table 1. Pedigrees of 3 multiplex.

Figure 3 Loss of MICU1 leads to a deficit in mitochondrial calcium handling without impairing respiration Loss of MICU1 leads to a deficit in mitochondrial.

Figure 1 Compound heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency Compound heterozygous mutations in HSD17B4.

Figure SCA10 in a Chinese Han family (A) Pedigree of the Chinese Han spinocerebellar ataxia type 10 (SCA10) family. SCA10 in a Chinese Han family (A) Pedigree.

Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,

Figure 4. The N:M ratio is significantly increased in patients with ALS and correlates with disease progression The N:M ratio is significantly increased.

Figure Avidity of IgG specific for influenza A and B following flu vaccinationAvidity of immunoglobulin (Ig) G specific for influenza A and B before and.

Figure 1 Peripheral blood lymphocyte counts during dose titrationB-lymphocyte (CD19+; A) and total lymphocyte (CD45+; B) counts (cells/µL) in peripheral.

Figure 4 CHCHD2 but not TOP1MT expression rescues molecular defects

Figure. Pedigree of the family studied, photographs, and identification of a homozygous mutation in TBCK Pedigree of the family studied, photographs, and.

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

IL-6 inhibits insulin-induced formation of p85/IRS-1 complexes.

Oxygen consumption is higher in lower lobe macrophages.

Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b

Figure 1. Pedigree and clinical picture of the patient

Figure 3. Sensitivity and specificity of microarray analysis in relation to target number Sensitivity and specificity of microarray analysis in relation.

Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy Hu Wang, Zhaohui Li, Jizheng Wang, Kai Sun, Qiqiong Cui, Lei Song, Yubao.

Vps36 interacts with Smo in the absence of Hh

Figure 2 Compound heterozygous mutations in ADAM22

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

Figure Pedigree, images, and mutation analysis of the neuroferritinopathy family Pedigree, images, and mutation analysis of the neuroferritinopathy family.

Figure 1 Novel stopgain mutation in adenosine monophosphate deaminase 2 segregates with disease in family ACC1 and causes complete loss of protein Novel.

Variation in dUTPase expression in cell lines.

Figure Results of duplication analysis and patient 11's chorein analysis and geographical distribution of VPS13A mutations Results of duplication analysis.

Figure 2. Percentage of CD16− monocytes in the blood is reduced during disease progression Percentage of CD16− monocytes in the blood is reduced during.

Differential effects of the RAF inhibitor PLX4032 in BRAF-mutant melanoma, thyroid, and colorectal cancer cell lines. Differential effects of the RAF inhibitor.

AKT activation in HCC2429 is SRC- but not Notch-dependent.

Fig. 6 The C9ORF72/SMCR8 complex regulates ULK1.

NE cleaves and activates GSDMD.

The interaction between PARsylated BRCA1 and RAP80 is required for maintaining BRCA1–RAP80–PARP1 complex integrity after DNA damage and normal HRR regulation.

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 4 Western blotting

Presentation transcript:

Figure 2 Increased mitochondrial sensitivity to glucose reduction in lymphoblastoid cells from patients with primary lateral sclerosis Increased mitochondrial sensitivity to glucose reduction in lymphoblastoid cells from patients with primary lateral sclerosis (A) The mutated amino acids L695 and I743 are highly conserved in vertebrate species. Mutant amino acid residues are indicated by arrows. (B) Western blot was performed using the lysates of the lymphoblastoid cells from the unaffected heterozygous (lanes 1 and 2) and the affected compound heterozygous (lanes 3 and 4) individuals in this family. GAPDH was used as a loading control. The relative ratios of band density for SPG7 over GAPDH are shown in the right panel. (C, D) Oxygen consumption rate (OCR) assays. The OCR was measured under 4 conditions: basal, complex V inhibited, uncoupler stimulated, and in the presence of complex I and III inhibitors. The lymphoblastoid cells from 3 different patients and 2 unaffected heterozygous individuals were used in normal (C) or stress (D) conditions using the standard SeaHorse protocols. In all assays, cell adhesion was facilitated by using Cell-Tak-treated assay plates. The cells were allowed to attach for 1 hour before beginning the assay. *p < 0.05. Yi Yang et al. Neurol Genet 2016;2:e60 © 2016 American Academy of Neurology