Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.

PubWeight™: 0.81‹?›

🔗 View Article (PMID 21093335)

Published in Mol Genet Metab on October 30, 2010

Authors

Linda M Randolph1, Hollie A Jackson, Jing Wang, Hiroyuki Shimada, Pedro A Sanchez-Lara, Derek A Wong, Lee-Jun Wong, Richard G Boles

Author Affiliations

1: Division of Medical Genetics, Children's Hospital Los Angeles, CA 90027, USA.

Articles by these authors

(truncated to the top 100)

A draft sequence of the rice genome (Oryza sativa L. ssp. indica). Science (2002) 42.78

WEGO: a web tool for plotting GO annotations. Nucleic Acids Res (2006) 13.06

Using FlyAtlas to identify better Drosophila melanogaster models of human disease. Nat Genet (2007) 12.62

Transformation from committed progenitor to leukaemia stem cell initiated by MLL-AF9. Nature (2006) 11.90

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science (2011) 11.12

Lymphoproliferative disease and autoimmunity in mice with increased miR-17-92 expression in lymphocytes. Nat Immunol (2008) 10.42

MiR-150 controls B cell differentiation by targeting the transcription factor c-Myb. Cell (2007) 9.33

Effect of aciclovir on HIV-1 acquisition in herpes simplex virus 2 seropositive women and men who have sex with men: a randomised, double-blind, placebo-controlled trial. Lancet (2008) 9.17

Selective chemical labeling reveals the genome-wide distribution of 5-hydroxymethylcytosine. Nat Biotechnol (2010) 9.01

Changes in diabetes-related complications in the United States, 1990-2010. N Engl J Med (2014) 8.73

The Genomes of Oryza sativa: a history of duplications. PLoS Biol (2005) 7.67

A draft sequence for the genome of the domesticated silkworm (Bombyx mori). Science (2004) 6.62

A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms. Nature (2004) 5.24

Self-monitoring in weight loss: a systematic review of the literature. J Am Diet Assoc (2011) 5.12

Long-term results for children with high-risk neuroblastoma treated on a randomized trial of myeloablative therapy followed by 13-cis-retinoic acid: a children's oncology group study. J Clin Oncol (2009) 5.12

Chromosome 1p and 11q deletions and outcome in neuroblastoma. N Engl J Med (2005) 4.92

AlleleSeq: analysis of allele-specific expression and binding in a network framework. Mol Syst Biol (2011) 4.71

The E3 ligase TRAF6 regulates Akt ubiquitination and activation. Science (2009) 4.63

Priming of naive T cells inside tumors leads to eradication of established tumors. Nat Immunol (2004) 3.95

Glycolytic enzymes can modulate cellular life span. Cancer Res (2005) 3.78

Phosphatidylinositol 4 phosphate regulates targeting of clathrin adaptor AP-1 complexes to the Golgi. Cell (2003) 3.75

Large-gap quantum spin Hall insulators in tin films. Phys Rev Lett (2013) 3.60

Regulation of OsSPL14 by OsmiR156 defines ideal plant architecture in rice. Nat Genet (2010) 3.56

Genome dynamics and diversity of Shigella species, the etiologic agents of bacillary dysentery. Nucleic Acids Res (2005) 3.56

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet (2006) 3.55

An epithelial-mesenchymal transition gene signature predicts resistance to EGFR and PI3K inhibitors and identifies Axl as a therapeutic target for overcoming EGFR inhibitor resistance. Clin Cancer Res (2012) 3.48

Sofosbuvir and Velpatasvir for HCV Genotype 2 and 3 Infection. N Engl J Med (2015) 3.13

Skp2 targeting suppresses tumorigenesis by Arf-p53-independent cellular senescence. Nature (2010) 3.09

HIV/STD risk behaviors and perceptions among rural-to-urban migrants in China. AIDS Educ Prev (2004) 3.04

Evolution of the immunoglobulin heavy chain class switch recombination mechanism. Adv Immunol (2007) 2.94

The cholesterol absorption inhibitor ezetimibe acts by blocking the sterol-induced internalization of NPC1L1. Cell Metab (2008) 2.84

Variants in the fat mass- and obesity-associated (FTO) gene are not associated with obesity in a Chinese Han population. Diabetes (2007) 2.83

Effect of KRAS oncogene substitutions on protein behavior: implications for signaling and clinical outcome. J Natl Cancer Inst (2012) 2.79

Prognostic significance of gene expression profiles of metastatic neuroblastomas lacking MYCN gene amplification. J Natl Cancer Inst (2006) 2.79

Rapid cardiotonic effects of lipid emulsion infusion*. Crit Care Med (2013) 2.76

BGI-RIS: an integrated information resource and comparative analysis workbench for rice genomics. Nucleic Acids Res (2004) 2.69

Proteomic profiling identifies dysregulated pathways in small cell lung cancer and novel therapeutic targets including PARP1. Cancer Discov (2012) 2.68

Trends in physical activity, sedentary behavior, diet, and BMI among US adolescents, 2001-2009. Pediatrics (2013) 2.66

Nuclear receptor Rev-erbalpha is a critical lithium-sensitive component of the circadian clock. Science (2006) 2.62

A developmental approach to complex PTSD: childhood and adult cumulative trauma as predictors of symptom complexity. J Trauma Stress (2009) 2.59

PDGF signalling controls age-dependent proliferation in pancreatic β-cells. Nature (2011) 2.53

The effect of passengers and risk-taking friends on risky driving and crashes/near crashes among novice teenagers. J Adolesc Health (2011) 2.53

Involvement of the ubiquitin-proteasome system in the early stages of wallerian degeneration. Neuron (2003) 2.51

Physics. Learning and scientific reasoning. Science (2009) 2.49

Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discov (2013) 2.49

PILRalpha is a herpes simplex virus-1 entry coreceptor that associates with glycoprotein B. Cell (2008) 2.49

A glimpse of streptococcal toxic shock syndrome from comparative genomics of S. suis 2 Chinese isolates. PLoS One (2007) 2.47

Microarrays: retracing steps. Nat Med (2007) 2.39

A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia. Ann Neurol (2008) 2.32

The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain (2007) 2.30

Crystal structure of the clathrin adaptor protein 1 core. Proc Natl Acad Sci U S A (2004) 2.28

BMP4 supports self-renewal of embryonic stem cells by inhibiting mitogen-activated protein kinase pathways. Proc Natl Acad Sci U S A (2004) 2.25

Crash and risky driving involvement among novice adolescent drivers and their parents. Am J Public Health (2011) 2.25

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25

Historical variations in mutation rate in an epidemic pathogen, Yersinia pestis. Proc Natl Acad Sci U S A (2012) 2.22

A mouse model of amyloid beta oligomers: their contribution to synaptic alteration, abnormal tau phosphorylation, glial activation, and neuronal loss in vivo. J Neurosci (2010) 2.22

The completion of the Mammalian Gene Collection (MGC). Genome Res (2009) 2.21

Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S. J Neurosci (2010) 2.20

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Hum Mutat (2014) 2.17

Influenza Virus Database (IVDB): an integrated information resource and analysis platform for influenza virus research. Nucleic Acids Res (2006) 2.14

Molecular classification of rhabdomyosarcoma--genotypic and phenotypic determinants of diagnosis: a report from the Children's Oncology Group. Am J Pathol (2009) 2.14

The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12

Proteomic markers of DNA repair and PI3K pathway activation predict response to the PARP inhibitor BMN 673 in small cell lung cancer. Clin Cancer Res (2013) 2.09

Increased expression of CYP17 and CYP11B1 in subclinical Cushing's syndrome due to adrenal adenomas. Int J Urol (2011) 2.07

Disrupted autophagy leads to dopaminergic axon and dendrite degeneration and promotes presynaptic accumulation of α-synuclein and LRRK2 in the brain. J Neurosci (2012) 2.06

Applications of beta-mixture models in bioinformatics. Bioinformatics (2005) 2.04

Concordance of sustained virological response 4, 12, and 24 weeks post-treatment with sofosbuvir-containing regimens for hepatitis C virus. Hepatology (2014) 2.04

A TNF receptor family member, TROY, is a coreceptor with Nogo receptor in mediating the inhibitory activity of myelin inhibitors. Neuron (2005) 2.03

Pregnancy, contraceptive use, and HIV acquisition in HPTN 039: relevance for HIV prevention trials among African women. J Acquir Immune Defic Syndr (2010) 2.01

A comprehensive approach to the analysis of matrix-assisted laser desorption/ionization-time of flight proteomics spectra from serum samples. Proteomics (2003) 2.01

Wld S requires Nmnat1 enzymatic activity and N16-VCP interactions to suppress Wallerian degeneration. J Cell Biol (2009) 1.98

A novel CCCH-zinc finger protein family regulates proinflammatory activation of macrophages. J Biol Chem (2008) 1.98

How many human genes can be defined as housekeeping with current expression data? BMC Genomics (2008) 1.97

SNARE proteins: one to fuse and three to keep the nascent fusion pore open. Science (2012) 1.89

Structure acquisition of the T1 domain of Kv1.3 during biogenesis. Neuron (2004) 1.89

Androgen receptor-negative human prostate cancer cells induce osteogenesis in mice through FGF9-mediated mechanisms. J Clin Invest (2008) 1.87

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol (2009) 1.85

Regulation of endothelial nitric oxide synthase by small RNA. Proc Natl Acad Sci U S A (2005) 1.85

MCP-induced protein 1 deubiquitinates TRAF proteins and negatively regulates JNK and NF-kappaB signaling. J Exp Med (2010) 1.84

The contribution of bone marrow-derived cells to the tumor vasculature in neuroblastoma is matrix metalloproteinase-9 dependent. Cancer Res (2005) 1.84

i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study. Nucleic Acids Res (2010) 1.83

Design, synthesis and cytotoxicity of novel podophyllotoxin derivatives. Chem Pharm Bull (Tokyo) (2008) 1.83

Multilocus analysis of hypertension: a hierarchical approach. Hum Hered (2004) 1.82

The role of herpesvirus entry mediator as a negative regulator of T cell-mediated responses. J Clin Invest (2005) 1.82

MethyCancer: the database of human DNA methylation and cancer. Nucleic Acids Res (2007) 1.81

Mechanisms for glycolipid antigen-driven cytokine polarization by Valpha14i NKT cells. J Immunol (2009) 1.81

Bacterial vaginosis and vaginal yeast, but not vaginal cleansing, increase HIV-1 acquisition in African women. J Acquir Immune Defic Syndr (2008) 1.80

A brain-to-brain interface for real-time sharing of sensorimotor information. Sci Rep (2013) 1.80

Fitness of anopheline mosquitoes expressing transgenes that inhibit Plasmodium development. Genetics (2004) 1.79

Secular changes in the age-specific prevalence of diabetes among U.S. adults: 1988-2010. Diabetes Care (2013) 1.79

Use of a multifaceted approach to analyze HIV incidence in a cohort study of women in the United States: HIV Prevention Trials Network 064 Study. J Infect Dis (2012) 1.78

Oncogenic Kras-induced leukemogeneis: hematopoietic stem cells as the initial target and lineage-specific progenitors as the potential targets for final leukemic transformation. Blood (2008) 1.78

Elevated retinol-binding protein 4 levels are associated with metabolic syndrome in Chinese people. J Clin Endocrinol Metab (2007) 1.77

Control of phyllotaxy by the cytokinin-inducible response regulator homologue ABPHYL1. Nature (2004) 1.77

Interleukin-6 in the bone marrow microenvironment promotes the growth and survival of neuroblastoma cells. Cancer Res (2009) 1.77

Rural-to-urban migrants and the HIV epidemic in China. AIDS Behav (2006) 1.75

Obtaining reliable information from minute amounts of RNA using cDNA microarrays. BMC Genomics (2002) 1.75

Uncoupling protein 2 knockout mice have enhanced insulin secretory capacity after a high-fat diet. Diabetes (2002) 1.74

Early hypercytokinemia is associated with interferon-induced transmembrane protein-3 dysfunction and predictive of fatal H7N9 infection. Proc Natl Acad Sci U S A (2013) 1.74