Abstract:
:Parkin is a multifunctional protein, including maintaining mitochondrial homeostasis. Recent evidence suggests that Parkin is recruited from the cytoplasm to damaged mitochondria with low membrane potential. We found that intracellular localization of Parkin changed with cellular growth phase. Parkin was preferentially localized in the mitochondria of cultured cells. The mitochondria with large amounts of Parkin showed preserved membrane potentials even during treatment with carbonyl cyanide m-chlorophenylhydrazone. Here we report a novel protein named Klokin 1 that transports Parkin to the mitochondria. Klokin 1 was localized to the mitochondria and enhanced mitochondrial expression of Parkin. Klokin 1 enhanced cell viability in Parkin-silenced cells. Klokin 1 expression was enhanced in the brains of Parkin-deficient mice but not in an autopsied PARK2 brain. Our findings indicate that mitochondrial Parkin prevents mitochondrial depolarization and that Klokin 1 may compensate for Parkin deficiency.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Kuroda Y,Sako W,Goto S,Sawada T,Uchida D,Izumi Y,Takahashi T,Kagawa N,Matsumoto M,Matsumoto M,Takahashi R,Kaji R,Mitsui Tdoi
10.1093/hmg/ddr530subject
Has Abstractpub_date
2012-03-01 00:00:00pages
991-1003issue
5eissn
0964-6906issn
1460-2083pii
ddr530journal_volume
21pub_type
杂志文章abstract::Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRM...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt309
更新日期:2013-11-15 00:00:00
abstract::Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twelve of the 14 emerin mutations caused early termination of translation...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.5.855
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/4.7.1137
更新日期:1995-07-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2019-04-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/8.6.1077
更新日期:1999-06-01 00:00:00
abstract::The tumour suppressor gene PTEN, localized to 10q23.3, is the susceptibility gene for Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba (BRR) syndrome, two hamartoma syndromes with an increased risk of breast and thyroid tumours. Somatic mutations have been found in a variety of human tumours. Functional studies have ...
journal_title:Human molecular genetics
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doi:10.1093/hmg/9.11.1633
更新日期:2000-07-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2001-12-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/8.5.813
更新日期:1999-05-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2003-01-15 00:00:00
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journal_title:Human molecular genetics
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更新日期:2013-07-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddh051
更新日期:2004-03-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds355
更新日期:2012-12-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:1992-09-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg098
更新日期:2003-04-15 00:00:00
abstract::Proteolytic fragmentation of polyglutamine-expanded ataxin-3 is a concomitant and modifier of the molecular pathogenesis of Machado-Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia. Calpains, a group of calcium-dependent cysteine proteases, are important mediators of ataxin-3 cleavage and imp...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddaa010
更新日期:2020-04-15 00:00:00
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journal_title:Human molecular genetics
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更新日期:1993-03-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.8.1331
更新日期:1994-08-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2013-06-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2006-12-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章,多中心研究
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更新日期:1998-08-01 00:00:00
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journal_title:Human molecular genetics
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更新日期:1998-08-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2006-04-15 00:00:00
abstract::Wolf-Hirschhorn syndrome (WHS) is a complex congenital syndrome caused by a monoallelic deletion of the short arm of chromosome 4. Seizures in WHS have been associated with deletion of LETM1 gene. LETM1 encodes for the human homologue of yeast Mdm38p, a mitochondria-shaping protein of unclear function. Here we show th...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2008-01-15 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.13.2045
更新日期:1998-12-01 00:00:00
abstract::Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase...
journal_title:Human molecular genetics
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更新日期:2018-12-01 00:00:00
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journal_title:Human molecular genetics
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更新日期:2007-12-01 00:00:00
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journal_title:Human molecular genetics
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更新日期:2009-06-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章,评审
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更新日期:1997-01-01 00:00:00
abstract::Peroxisomes are vital eukaryotic organelles that participate in lipid metabolism, in particular the metabolism of very-long-chain fatty acids (VLCFA). The biogenesis of peroxisomes is regulated by a set of peroxin proteins (PEX). In humans, mutations affecting peroxin protein production or function result in devastati...
journal_title:Human molecular genetics
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更新日期:2010-02-01 00:00:00