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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 27 Jun 2015.

TOM40 Tom40p

Tom40, ISP42, TOMM40
TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for protein import into mitochondria (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM, May 2008] (from NCBI)
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Top mentioned proteins: apolipoprotein E, AGE, HAD, Apolipoprotein C-I, ACID
Papers on Tom40
Genes determining the severity of cerebral palsy: the role of single nucleotide polymorphisms on the amount and structure of apolipoprotein E.
Vik et al., Trondheim, Norway. In Acta Paediatr, 31 Jul 2015
We previously reported that specific single nucleotide polymorphisms in the APOE or TOMM40 genes affecting the structure and production of apoE were associated with epilepsy, more impaired hand function and gastrostomy tube feeding in children with cerebral palsy (CP).
Rare Coding Variation and Risk of Intracerebral Hemorrhage.
Rosand et al., Boston, United States. In Stroke, 25 Jul 2015
Three common variants on chromosome 19q13 at an established susceptibility locus, encompassing TOMM40, APOE, and APOC1, met genome-wide significance (P<5e-08).
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
Bruni et al., Genova, Italy. In Neurology, 02 Jul 2015
CONCLUSIONS: Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes.
The effect of TOMM40 on spatial navigation in amnestic mild cognitive impairment.
Hort et al., Praha, Czech Republic. In Neurobiol Aging, 30 Jun 2015
The very long (VL) poly-T variant at rs10524523 ("523") of the TOMM40 gene may hasten the onset of late-onset Alzheimer's disease (LOAD) and induce more profound cognitive impairment compared with the short (S) poly-T variant.
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.
Muscle Study Group and the International IBM Genetics Consortium et al., London, United Kingdom. In Neurobiol Aging, Apr 2015
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with sporadic inclusion body myositis (sIBM) compared with controls and associated with a later age of sIBM symptom onset, suggesting a protective effect of this haplotype.
Stimulatory Effects of Balanced Deep Sea Water on Mitochondrial Biogenesis and Function.
Shon et al., Taegu, South Korea. In Plos One, Dec 2014
Quantitative real-time PCR revealed that BDSW enhances gene expression of PGC-1α, NRF1, and TFAM for mitochondrial transcription; MFN1/2 and DRP1 for mitochondrial fusion; OPA1 for mitochondrial fission; TOMM40 and TIMM44 for mitochondrial protein import; CPT-1α and MCAD for fatty acid oxidation; CYTC for oxidative phosphorylation.
Hippocampal transcriptome-guided genetic analysis of correlated episodic memory phenotypes in Alzheimer's disease.
Alzheimer's Disease Neuroimaging Initiative et al., Indianapolis, United States. In Front Genet, Dec 2014
In addition to well-known AD genetic markers APOE and TOMM40, our analysis identified a new risk gene NAV2 through the gene-level main effect analysis.
The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging.
Chiba-Falek et al., Durham, United States. In J Parkinsons Dis Alzheimers Dis, Nov 2014
A polymorphism in Translocase of the Outer Mitochondrial Membrane - 40 kD (TOMM40) is associated with risk and age-of onset of late-onset AD, and is the only nuclear- encoded gene identified in genetic studies to date that presumably contributes to LOAD-related mitochondria dysfunction.
Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers.
Alzheimer’s Disease Neuroimaging Initiative et al., Indianapolis, United States. In Brain Imaging Behav, Jun 2014
Several other genes (e.g., APOC1, FTO, GRIN2B, MAGI2, and TOMM40) were associated with multiple ADNI phenotypes, warranting further investigation on other data sets.
New applications of disease genetics and pharmacogenetics to drug development.
Brannan et al., Durham, United States. In Curr Opin Pharmacol, Feb 2014
The trial is made practical by the use of a pharmacogenetic algorithm based on TOMM40 and APOE genotypes and age to identify normal subjects at high risk of MCI-AD between the ages of 65-83 years within a five year follow-up period.
[TOMM40 gene polymorphism association with lipid profile].
Puzyrev et al., In Genetika, Feb 2014
The distribution of the allele and genotype frequency for the TOMM40 gene polymorphic variants rs741780, rs157580, rs1160985, rs2075650, and rs8106922 was analyzed in a sampling of ethnic Russians from the city of Kemerovo.
TOMM40 and APOE: Requirements for replication studies of association with age of disease onset and enrichment of a clinical trial.
Gottschalk et al., Durham, United States. In Alzheimers Dement, 2013
A number of recent studies have not replicated the association of the translocase of the outer mitochondrial membrane pore subunit (TOMM40) rs10524523 polymorphism, which is in linkage disequilibrium with apolipoprotein E (APOE), with age of onset of Alzheimer's disease (AD).
Downregulation of TOMM40 expression in the blood of Alzheimer disease subjects compared with matched controls.
Krishnan et al., In J Psychiatr Res, 2012
This study demonistrated that Downregulation of TOMM40 expression in the blood of Alzheimer disease.
Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants.
Blennow et al., United States. In Exp Gerontol, 2012
Subjects with APOE epsilon4 have higher CSF NFL levels than non-epsilon4 carriers, only when they do not carry a short poly-T variant of TOMM40, which is associated with later age of onset of AD
Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE.
Yu et al., Seattle, United States. In J Hum Genet, 2012
The main novel finding of this investigation was that multiple APOE locus cis-elements influence both APOE and TOMM40 promoter activity according to haplotype and cell type.
TOMM40 rs10524523 polymorphism's role in late-onset Alzheimer's disease and in longevity.
Zekanowski et al., Warsaw, Poland. In J Alzheimers Dis, 2011
This study identi fi ed TOMM40alleles, genotypes,as well asTOMM40-E4haplotypes that in fl uencelongevity.
Characterization of the poly-T variant in the TOMM40 gene in diverse populations.
Chiba-Falek et al., Durham, United States. In Plos One, 2011
the poly-T, rs10524523 allele frequencies in different ethnicities.
[Risk factors for Alzheimer's disease].
Yamada et al., Kanazawa, Japan. In Brain Nerve, 2010
In addition, several genes such as CTNNA3, GAB2, PVRL2, TOMM40, and APOC1 are known to be the risk factors that contribute to AD pathogenesis.
An inherited variable poly-T repeat genotype in TOMM40 in Alzheimer disease.
Roses, Durham, United States. In Arch Neurol, 2010
I coauthored a recently published research article describing a variable length, poly-T polymorphism in the TOMM40 gene, adjacent to apolipoprotein E (APOE) on chromosome 19, that accounts for the age at onset distribution for a complex disease, late-onset Alzheimer disease.
A yeast mitochondrial outer membrane protein essential for protein import and cell viability.
Schatz et al., Basel, Switzerland. In Nature, 1991
The gene encoding ISP42, an integral outermembrane protein located at the yeast mitochondrial protein import site was cloned, sequenced and modified.
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