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PEX10 Pex10p

PEX10, Pex10p
This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: PEX12, PEX2, PEX3, Pex13p, CAN
Papers on PEX10
Genome-wide Loci linked to non-obstructive azoospermia susceptibility may be independent of reduced sperm production in males with normozoospermia.
New
Yang et al., Chengdu, China. In Biol Reprod, Feb 2015
To better understand the role of the variants in conferring NOA risk, we selected four GWAS loci (HLA-DRA rs3129878, PRMT6 rs12097821, SOX5 rs10842262, and PEX10 rs2477686) that were reported before 2014 to investigate their association with NOA and their potential effects on sperm production in 1177 Han males from southwest China, including 545 patients with idiopathic NOA and 632 controls with normozoospermia.
[Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations].
New
Wang et al., Changsha, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Feb 2015
OBJECTIVE: To assess the association of PEX10 gene and 1p36 copy number variations in 1p36 region with concurrent epilepsy through analyzing 3 cases.
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
Hacia et al., Los Angeles, United States. In Stem Cell Res Ther, 2014
METHODS: Primary skin fibroblasts from seven PBD-ZSD patients with biallelic PEX1, PEX10, PEX12, or PEX26 mutations and three healthy donors were transduced with retroviral vectors expressing Yamanaka reprogramming factors.
Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.
Niswander et al., Aurora, United States. In Dev Biol, 2014
Despite the fact that neurological deficits, including peripheral nervous system (PNS) defects, can be observed at birth in some PBD patients including those with PEX10 mutations, the embryological basis of the PNS defects is unclear.
Peroxisomal ubiquitin-protein ligases peroxin2 and peroxin10 have distinct but synergistic roles in matrix protein import and peroxin5 retrotranslocation in Arabidopsis.
Bartel et al., Houston, United States. In Plant Physiol, 2014
From a microscopy-based screen to identify Arabidopsis (Arabidopsis thaliana) mutants defective in matrix protein degradation, we isolated unique mutations in PEX2 and PEX10, which encode ubiquitin-protein ligases anchored in the peroxisomal membrane.
Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.
Fujiki et al., Fukuoka, Japan. In J Biol Chem, 2014
Here, we establish an in vitro ubiquitination assay system and demonstrate that RING finger Pex10p functions as an E3 with an E2, UbcH5C.
Association study between polymorphisms of PRMT6, PEX10, SOX5, and nonobstructive azoospermia in the Han Chinese population.
Hu et al., Shanghai, China. In Biol Reprod, 2014
A previous genomewide association study of nonobstructive azoospermia (NOA) in the Han Chinese population identified three risk loci (rs12097821, rs2477686, and rs10842262) and provided strong evidence for a genetic influence in male infertility.
The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes.
Tan et al., Changsha, China. In Mol Cytogenet, 2013
The expression levels of B3GALT6, MIB2, PEX10 and PANK4 in the blood were determined, and differential expressions were observed between the patients and controls.
Production of omega-3 eicosapentaenoic acid by metabolic engineering of Yarrowia lipolytica.
Impact
Zhu et al., Wilmington, United States. In Nat Biotechnol, 2013
Inactivation of the peroxisome biogenesis gene PEX10 was crucial in obtaining high EPA yields and may increase the yields of other commercially desirable lipid-related products.
The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner.
GeneRIF
Erdmann et al., Bochum, Germany. In Febs J, 2012
the RING domains form a heteromeric complex with Pex10p(RING) as a central component that directly binds the Pex2p(RING) and Pex12p(RING).
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
Impact
Sha et al., Nanjing, China. In Nat Genet, 2012
The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39,
Different functions of the C3HC4 zinc RING finger peroxins PEX10, PEX2, and PEX12 in peroxisome formation and matrix protein import.
GeneRIF
Gietl et al., Freising, Germany. In Proc Natl Acad Sci U S A, 2010
Data show that formation of glyoxysomal reticulum seemed to be impaired in PEX10-DeltaZn but not in PEX2-DeltaZn-T7 or PEX12-DeltaZn-T7 plants.
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Review
GeneRIF
Waterham et al., Leuven, Belgium. In Ann Neurol, 2010
child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, decreased vibration sense and cerebellar atrophy; 2 mutations in PEX10 found in child, c.992G>A and c.764_765insA, and in the adult, c.2T>C and c.790C>T
Suppression of peroxisome biogenesis factor 10 reduces cuticular wax accumulation by disrupting the ER network in Arabidopsis thaliana.
GeneRIF
Nishimura et al., Okazaki, Japan. In Plant Cell Physiol, 2009
Cuticular wax formation in AtPEX10i is inhibited by down-regulation of the genes involved in wax biosynthesis and mislocalization of the gene products by disrupting the endoplasmic reticulum network.
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
GeneRIF
Hacia et al., Los Angeles, United States. In Hum Mutat, 2009
the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX10 gene.
The ER-peroxisome connection in plants: development of the "ER semi-autonomous peroxisome maturation and replication" model for plant peroxisome biogenesis.
Review
Trelease et al., Guelph, Canada. In Biochim Biophys Acta, 2006
Results from more recent studies of various plant PMPs including ascorbate peroxidase, PEX10 and PEX16, as well as a viral replication protein, have since led to the formulation of a more elaborate "ER semi-autonomous peroxisome maturation and replication" model.
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Review
Moser et al., Seattle, United States. In Unknown Journal, 2004
CLINICAL CHARACTERISTICS: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) is a continuum of three phenotypes — Zellweger syndrome (ZS), the most severe; neonatal adrenoleukodystrophy (NALD); and infantile Refsum disease (IRD), the least severe — that were originally described before the biochemical and molecular bases of these disorders had been fully determined.
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Review
Kondo et al., Gifu, Japan. In J Inherit Metab Dis, 2001
PEX1 and PEX6 encode ABC protein, and PEX10 and PEX12 also encode integral membrane protein, with RING finger.
Biochemical and molecular approaches to understanding protein import into peroxisomes.
Review
Thomas et al., Leeds, United Kingdom. In Biochem Soc Trans, 1999
To obtain homologous antibodies for inhibition experiments, to immunoprecipitate cross-linked products and to enable us to study the import pathways of peroxins we have cloned and characterized plant orthologues of three PEX genes, PEX6, PEX10 and PEX14.
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